loss of heterozygosity

Summary

Summary: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal hemizygosity. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted. When this occurs at a tumor suppressor gene locus where one of the alleles is already abnormal, it can result in neoplastic transformation (CELL TRANSFORMATION, NEOPLASTIC).

Top Publications

  1. pmc Genetic pathways to primary and secondary glioblastoma
    Hiroko Ohgaki
    International Agency for Research on Cancer, 150 cours Albert Thomas, 69372 Lyon Cedex 08, France
    Am J Pathol 170:1445-53. 2007
  2. ncbi The genetics and genomics of cancer
    Allan Balmain
    UCSF Comprehensive Cancer Center and Department of Biochemistry and Biophysics, San Francisco, California 94143, USA
    Nat Genet 33:238-44. 2003
  3. pmc Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
    Jarupon Fah Sathirapongsasuti
    Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA
    Bioinformatics 27:2648-54. 2011
  4. ncbi Long-term survival with glioblastoma multiforme
    Dietmar Krex
    Department of Neurosurgery, Carl Gustav Carus University Hospital, University of Technology, Dresden, Germany
    Brain 130:2596-606. 2007
  5. pmc Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast cancer
    Gavin Ha
    Department of Molecular Oncology, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada
    Genome Res 22:1995-2007. 2012
  6. ncbi Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density single-nucleotide polymorphism arrays
    Mitchell Stark
    Oncogenomics Laboratory, Queensland Institute of Medical Research, Herston, Queensland, Australia
    Cancer Res 67:2632-42. 2007
  7. pmc PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data
    Chris D Greenman
    Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Biostatistics 11:164-75. 2010
  8. ncbi Selectively advantageous mutations and hitchhikers in neoplasms: p16 lesions are selected in Barrett's esophagus
    Carlo C Maley
    Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Cancer Res 64:3414-27. 2004
  9. doi Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas
    K D Hadfield
    Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK
    Oncogene 29:6216-21. 2010
  10. pmc GPHMM: an integrated hidden Markov model for identification of copy number alteration and loss of heterozygosity in complex tumor samples using whole genome SNP arrays
    Ao Li
    Department of Electronic Science and Technology, University of Science and Technology of China
    Nucleic Acids Res 39:4928-41. 2011

Detail Information

Publications350 found, 100 shown here

  1. pmc Genetic pathways to primary and secondary glioblastoma
    Hiroko Ohgaki
    International Agency for Research on Cancer, 150 cours Albert Thomas, 69372 Lyon Cedex 08, France
    Am J Pathol 170:1445-53. 2007
    ..They affect mainly the elderly and are genetically characterized by loss of heterozygosity 10q (70% of cases), EGFR amplification (36%), p16(INK4a) deletion (31%), and PTEN mutations (25%)...
  2. ncbi The genetics and genomics of cancer
    Allan Balmain
    UCSF Comprehensive Cancer Center and Department of Biochemistry and Biophysics, San Francisco, California 94143, USA
    Nat Genet 33:238-44. 2003
    ....
  3. pmc Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
    Jarupon Fah Sathirapongsasuti
    Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA
    Bioinformatics 27:2648-54. 2011
    The ability to detect copy-number variation (CNV) and loss of heterozygosity (LOH) from exome sequencing data extends the utility of this powerful approach that has mainly been used for point or small insertion/deletion detection.
  4. ncbi Long-term survival with glioblastoma multiforme
    Dietmar Krex
    Department of Neurosurgery, Carl Gustav Carus University Hospital, University of Technology, Dresden, Germany
    Brain 130:2596-606. 2007
    ....
  5. pmc Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast cancer
    Gavin Ha
    Department of Molecular Oncology, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada
    Genome Res 22:1995-2007. 2012
    b>Loss of heterozygosity (LOH) and copy number alteration (CNA) feature prominently in the somatic genomic landscape of tumors...
  6. ncbi Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density single-nucleotide polymorphism arrays
    Mitchell Stark
    Oncogenomics Laboratory, Queensland Institute of Medical Research, Herston, Queensland, Australia
    Cancer Res 67:2632-42. 2007
    ..single-nucleotide polymorphism arrays to define a comprehensive allelotype of melanoma based on loss of heterozygosity (LOH) and copy number changes in a panel of 76 melanoma cell lines...
  7. pmc PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data
    Chris D Greenman
    Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Biostatistics 11:164-75. 2010
    ..This produces genotype classification, specification of regions of loss of heterozygosity, and absolute allelic copy number segmentation...
  8. ncbi Selectively advantageous mutations and hitchhikers in neoplasms: p16 lesions are selected in Barrett's esophagus
    Carlo C Maley
    Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Cancer Res 64:3414-27. 2004
    ..Purified epithelial cells were assayed for loss of heterozygosity and microsatellite shifts on chromosomes 9 and 17, sequence mutations in CDKN2A/MTS1/INK4a (p16) and TP53 (..
  9. doi Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas
    K D Hadfield
    Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK
    Oncogene 29:6216-21. 2010
    ..of a point mutation or multiexon deletion, in conjunction with either a second point mutation or loss of heterozygosity (LOH)...
  10. pmc GPHMM: an integrated hidden Markov model for identification of copy number alteration and loss of heterozygosity in complex tumor samples using whole genome SNP arrays
    Ao Li
    Department of Electronic Science and Technology, University of Science and Technology of China
    Nucleic Acids Res 39:4928-41. 2011
    ..profiling chromosomal rearrangements in tumors, as they allow simultaneous detection of copy number and loss of heterozygosity with high resolution...
  11. pmc Comparative genomic hybridization, loss of heterozygosity, and DNA sequence analysis of single cells
    C A Klein
    Institut fur Immunologie, Ludwig Maximilians Universitat Munchen, D 80336 MUnchen, Germany
    Proc Natl Acad Sci U S A 96:4494-9. 1999
    ..The observed congruent pattern of comparative genomic hybridization data, loss of heterozygosity, and mutations as detected by sequencing attests to the technique's fidelity and demonstrates its ..
  12. ncbi Neuroblastoma: biological insights into a clinical enigma
    Garrett M Brodeur
    Division of Oncology, The Children s Hospital of Philadelphia and the University of Pennsylvania, Philadelphia, Pennsylvania 19104 4318, USA
    Nat Rev Cancer 3:203-16. 2003
    ..Future therapies will focus increasingly on the genes and biological pathways that contribute to malignant transformation or progression...
  13. ncbi Genomewide loss of heterozygosity and its clinical associations in non small cell lung cancer
    Ruo Chia Tseng
    Department of Life Sciences, National Taiwan Normal University, Taipei, Taiwan
    Int J Cancer 117:241-7. 2005
    ..b>Loss of heterozygosity (LOH) was detected by genotyping of 177 microsatellite markers and correlation of LOH with ..
  14. ncbi Inactivation of LKB1/STK11 is a common event in adenocarcinomas of the lung
    Montserrat Sanchez-Cespedes
    Department of Otolaryngology Head and Neck Surgery, Head and Neck Cancer Research Division, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 2196, USA
    Cancer Res 62:3659-62. 2002
    ..Thus, our findings demonstrate for the first time that LKB1/STK11 inactivation is a very common event and may be integrally involved in the development of sporadic lung adenocarcinoma...
  15. pmc The chromosomal instability pathway in colon cancer
    Maria S Pino
    Gastrointestinal Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Gastroenterology 138:2059-72. 2010
    ..the CIN pathway, which is characterized by widespread imbalances in chromosome number (aneuploidy) and loss of heterozygosity. It can result from defects in chromosomal segregation, telomere stability, and the DNA damage response, ..
  16. ncbi Genetic clonal diversity predicts progression to esophageal adenocarcinoma
    Carlo C Maley
    The Wistar Institute, 3601 Spruce St, Philadelphia, Pennsylvania 19104, USA
    Nat Genet 38:468-73. 2006
    ..6) and ploidy abnormalities. Progression to cancer through accumulation of clonal diversity, on which natural selection acts, may be a fundamental principle of neoplasia with important clinical implications...
  17. pmc Whole chromosome instability caused by Bub1 insufficiency drives tumorigenesis through tumor suppressor gene loss of heterozygosity
    Darren J Baker
    Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Cancer Cell 16:475-86. 2009
    ..Thus, Bub1 insufficiency can drive tumor formation through tumor suppressor gene loss of heterozygosity, but only in restricted genetic and cellular contexts.
  18. pmc High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
    Daniel A Peiffer
    Illumina, Inc, San Diego, California 92121, USA
    Genome Res 16:1136-48. 2006
    ..Finally, the two analysis modes are compared and contrasted for their utility in analyzing different types of input gDNA: low input amounts, fragmented gDNA, and Phi29 whole-genome pre-amplified DNA...
  19. pmc Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells
    Jeannine R Larocque
    Developmental Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    Proc Natl Acad Sci U S A 108:11971-6. 2011
    Genomic integrity often is compromised in tumor cells, as illustrated by genetic alterations leading to loss of heterozygosity (LOH)...
  20. pmc High-resolution global genomic survey of 178 gliomas reveals novel regions of copy number alteration and allelic imbalances
    Yuri Kotliarov
    Neuro Oncology Branch, National Cancer Institute, Bethesda, MD 20892 4254, USA
    Cancer Res 66:9428-36. 2006
    ..number alterations (amplifications, homozygous and heterozygous deletions) as well as allelic imbalances (loss of heterozygosity/gene conversions)...
  21. doi 14q32/miRNA clusters loss of heterozygosity in acute lymphoblastic leukemia is associated with up-regulation of BCL11a
    Cecilia Agueli
    Divisione di Ematologia con UTMO, Ospedali Riuniti Villa Sofia Cervello, Palermo, Italy
    Am J Hematol 85:575-8. 2010
    ..These results suggest that 14q32/miRNA clusters LOH may be another mechanism involved in lymphoid B cell transformation and differentiation and therefore, could be used as a diagnostic marker and therapeutic target in subsets of ALL...
  22. ncbi Genetic mechanisms of hepatocarcinogenesis
    Mark A Feitelson
    Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, 1020 Locust Street, Philadelphia, PA 19107, USA
    Oncogene 21:2593-604. 2002
    ..result from altered DNA methylation, the actions of hepatitis B and C viruses, and point mutations or loss of heterozygosity (LOH) in selected cellular genes...
  23. pmc Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locus
    Marcia Helena Soares Costa
    Unidade de Suprarrenal, do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, SP, Brasil
    Clinics (Sao Paulo) 66:529-33. 2011
    ..in the genesis of the adrenocortical lesions seen in MEN1 syndrome (ACL-MEN1) remain poorly understood; loss of heterozygosity at 11q13 and somatic mutations of MEN1 are not usually found in these lesions...
  24. pmc WWOX, the common chromosomal fragile site, FRA16D, cancer gene
    J H Ludes-Meyers
    Department of Carcinogenesis, The University of Texas M D Anderson Cancer Center, Science Park Research Division, Smithville, TX 78957, USA
    Cytogenet Genome Res 100:101-10. 2003
    ..In addition, we will discuss the possible biochemical functions of WWOX and present evidence that ectopic WWOX expression inhibits tumor growth...
  25. pmc Pathogenesis and consequences of uniparental disomy in cancer
    Hideki Makishima
    Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Clin Cancer Res 17:3913-23. 2011
    ..genome-wide single nucleotide polymorphism arrays has demonstrated that somatically acquired regions of loss of heterozygosity without changes in copy number frequently occur in many types of cancer...
  26. doi Copy-neutral loss of heterozygosity at the p53 locus in carcinogenesis of esophageal squamous cell carcinomas associated with p53 mutations
    Hiroshi Saeki
    Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, Higashi ku, Fukuoka, Japan
    Clin Cancer Res 17:1731-40. 2011
    ..LOH at the p53 locus has been reported to be associated with esophageal squamous cell carcinogenesis. The aim of this study is to identify potential mechanisms resulting in LOH around the p53 locus in its carcinogenesis...
  27. ncbi Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis
    J R Howe
    Department of Surgery, University of Iowa College of Medicine, Iowa City, Iowa, USA
    Nat Genet 28:184-7. 2001
    ..These findings indicate involvement of an additional gene in the transforming growth factor-beta (TGF-beta) superfamily in the genesis of JP, and document an unanticipated function for BMP in colonic epithelial growth control...
  28. pmc INI1 mutations in meningiomas at a potential hotspot in exon 9
    U Schmitz
    Department of Neuropathology, , Humboldt University, Berlin, 13353, Germany
    Br J Cancer 84:199-201. 2001
    ..In addition, 4 novel polymorphisms of INI1 were characterized. Our data indicate that the INI1 is a second tumour suppressor gene on chromosome 22 that may be important for the genesis of meningiomas...
  29. pmc Genome wide analysis of DNA copy number neutral loss of heterozygosity (CNNLOH) and its relation to gene expression in esophageal squamous cell carcinoma
    Nan Hu
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland, USA
    BMC Genomics 11:576. 2010
    ..We previously characterized genomic instability in esophageal squamous cell carcinomas (ESCC) in terms of loss of heterozygosity (LOH) and copy number (CN) changes in tumors using the Affymetrix GeneChip Human Mapping 500K array in 30 ..
  30. pmc Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays
    Tatiana Popova
    Centre de Recherche, Institut Curie, 26 Rue d Ulm, Paris, 75248, France
    Genome Biol 10:R128. 2009
    ..Assignments were verified by DNA indexes of primary tumors and karyotypes of cell lines. The method performs well even for poor-quality data, low tumor content, and highly rearranged tumor genomes...
  31. pmc From the Cover: mitotic gene conversion events induced in G1-synchronized yeast cells by gamma rays are similar to spontaneous conversion events
    Phoebe S Lee
    Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
    Proc Natl Acad Sci U S A 107:7383-8. 2010
    ....
  32. doi Imprinted tumor suppressor genes ARHI and PEG3 are the most frequently down-regulated in human ovarian cancers by loss of heterozygosity and promoter methylation
    Weiwei Feng
    Department of Experimental Therapeutics, The University of Texas M D Anderson Cancer Center, Houston, Texas 77030 4009, USA
    Cancer 112:1489-502. 2008
    ..Two imprinted genes, paternally expressed 3 (PEG3) and aplasia Ras homologue member I (ARHI), are the most frequently down-regulated in ovarian cancers on gene expression arrays...
  33. pmc Dysfunctional homologous recombination mediates genomic instability and progression in myeloma
    Masood A Shammas
    Department of Medicine, VA Health Care System and Harvard Medical School Boston, MA, USA
    Blood 113:2290-7. 2009
    ..These data identify dysregulated HR activity as a key mediator of DNA instability and progression of MM, with potential as a therapeutic target...
  34. pmc Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies
    Christine O'Keefe
    Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Blood 115:2731-9. 2010
    ..cytogenetics with the unique ability to delineate a previously hidden chromosomal defect, copy neutral loss of heterozygosity (CN-LOH)...
  35. pmc Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms
    Elisa Rumi
    Department of Molecular Medicine, University of Pavia, Pavia, Italy
    Blood 121:4388-95. 2013
    ..Patients with higher mutation burdens had evidence of acquired copy-neutral loss of heterozygosity (CN-LOH) of chromosome 1p in granulocytes, consistent with a transition from heterozygosity to ..
  36. ncbi Cancer epigenetics comes of age
    P A Jones
    Department of Biochemistry and Molecular Biology, University of Southern California School of Medicine, The Norris Comprehensive Cancer Center, Los Angeles 90033, USA
    Nat Genet 21:163-7. 1999
    ..We review here current mechanistic understanding of the role of DNA methylation in malignant transformation, and suggest Knudson's two-hit hypothesis should now be expanded to include epigenetic mechanisms of gene inactivation...
  37. ncbi Frequent inactivation of PTEN by promoter hypermethylation in microsatellite instability-high sporadic colorectal cancers
    Ajay Goel
    Department of Medicine and Comprehensive Cancer Center, University of California San Diego, La Jolla, California, USA
    Cancer Res 64:3014-21. 2004
    ....
  38. ncbi Role of glutathione peroxidase 1 in breast cancer: loss of heterozygosity and allelic differences in the response to selenium
    Ya Jun Hu
    Department of Human Nutrition, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Cancer Res 63:3347-51. 2003
    ..To determine whether this was because of the loss of heterozygosity (LOH) during tumor development, another polymorphic marker within GPx-1, which is frequently heterozygous ..
  39. doi Loss of heterozygosities in Barrett esophagus, dysplasia, and adenocarcinoma detected by esophageal brushing cytology and gastroesophageal biopsy
    Xiaoqi Lin
    Department of Pathology, Northwestern University, 251 East Huron Street, Chicago, IL 60611, USA
    Cancer 117:57-66. 2009
    ..Esophageal brushing cytology (EBC) and gastroesophageal biopsy (GEB) are complementary procedures for the evaluation of gastroesophageal lesions that help guide surveillance and treatment...
  40. ncbi Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity
    P Legoix
    Centre d Etude du Polymorphisme Humain, INSERM U434 Laboratoire de Génétique des Tumeurs, Fondation Jean Dausset CEPH, Paris, France
    Oncogene 18:4044-6. 1999
    ..The first mechanism implies a beta catenin activating mutation associated with a low rate of loss of heterozygosity. The second mechanism, operating in a context of chromosomal instability, would involve tumor suppressor ..
  41. doi Gene expression meta-analysis identifies chromosomal regions and candidate genes involved in breast cancer metastasis
    Mads Thomassen
    Department of Biochemistry, Pharmacology, and Genetics, Odense University Hospital and Human Microarray Centre, University of Southern Denmark, Odense, Denmark
    Breast Cancer Res Treat 113:239-49. 2009
    ..Potential metastasis promoting genes includes RECQL4 at 8q24, PRMT7 at 16q22, GINS2 at 16q24, and AURKA at 20q13...
  42. doi Loss of heterozygosity at tumor suppressor genes detectable on fractionated circulating cell-free tumor DNA as indicator of breast cancer progression
    Heidi Schwarzenbach
    Department of Tumor Biology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Clin Cancer Res 18:5719-30. 2012
    ..As identification of LOH on cell-free DNA is impeded by the prevalence of wild type DNA in blood of cancer patients, we fractionated plasma DNA, and determined the diagnostic and prognostic value of both fractions...
  43. ncbi Role of Wnt pathway in medulloblastoma oncogenesis
    Naoki Yokota
    Department of Neurosurgery, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan
    Int J Cancer 101:198-201. 2002
    ..Disruption of these proteins could result in upregulation of the Wnt signaling and accumulation of beta-catenin, followed by cell proliferation and medulloblastoma oncogenesis...
  44. pmc High-resolution genome-wide allelotype analysis identifies loss of chromosome 14q as a recurrent genetic alteration in astrocytic tumours
    J Hu
    Department of Neurosurgery, Hua Shan Hospital, Shanghai Medical University, Shanghai, China
    Br J Cancer 87:218-24. 2002
    ....
  45. ncbi Detection of loss of heterozygosity by high-resolution fluorescent system in non-small cell lung cancer: association of loss of heterozygosity with smoking and tumor progression
    Ichiro Yoshino
    Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Chest 123:545-50. 2003
    ..In patients with non-small cell lung cancer (NSCLC), loss of heterozygosity (LOH) is frequently observed and causes functional disorders of tumor suppressor genes.
  46. pmc Loss of heterozygosity and copy number abnormality in clear cell renal cell carcinoma discovered by high-density affymetrix 10K single nucleotide polymorphism mapping array
    Marieta I Toma
    Institute for Pathology, University of Technology Dresden, D 01307 Dresden, Germany
    Neoplasia 10:634-42. 2008
    Genetic aberrations are crucial in renal tumor progression. In this study, we describe loss of heterozygosity (LOH) and DNA-copy number abnormalities in clear cell renal cell carcinoma (cc-RCC) discovered by genome-wide single nucleotide ..
  47. doi Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease
    Manoe J Janssen
    Department of Gastroenterology and Hepatology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Gastroenterology 141:2056-2063.e2. 2011
    ..We investigated whether mutations in cyst epithelial cells and corresponding loss of the PRKCSH gene product (hepatocystin) contributed to cyst development...
  48. ncbi Coexistence of the loss of heterozygosity at the PTEN locus and HER2 overexpression enhances the Akt activity thus leading to a negative progesterone receptor expression in breast carcinoma
    Eriko Tokunaga
    Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, Maidashi 3 1 1, Fukuoka 812 8582, Japan
    Breast Cancer Res Treat 101:249-57. 2007
    ..Our results suggest that simultaneous PTEN LOH and HER2 overexpression enhances Akt activation and may thus lead to a negative PR expression...
  49. doi Genomic profiling reveals alternative genetic pathways of meningioma malignant progression dependent on the underlying NF2 status
    Stéphane Goutagny
    Université Paris 5 Descartes, Paris, France
    Clin Cancer Res 16:4155-64. 2010
    ..WHO defines three grades predictive of the risk of recurrence. Clinical data supporting histologic malignant progression of meningiomas are sparse and underlying molecular mechanisms are not clearly depicted...
  50. ncbi Characterization CSMD1 in a large set of primary lung, head and neck, breast and skin cancer tissues
    Changqing Ma
    Department of Otorhinolaryngology, Head and Neck Surgery, University of Pennsylvania, Philadelphia, PA 19104, USA
    Cancer Biol Ther 8:907-16. 2009
    ..We also show that deletions of CSMD1 and aberrant splicing contribute to altered CSMD1 function in vivo...
  51. pmc Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis
    Christopher Groves
    Academic Unit and Polyposis Registry, Saint Mark s Hospital, Harrow, United Kingdom
    Am J Pathol 160:2055-61. 2002
    ..Compared with colonic tumors, however, retention of a greater number of beta-catenin binding/degradation repeats is optimal for tumorigenesis in upper gastrointestinal FAP...
  52. doi LOH and copy neutral LOH (cnLOH) act as alternative mechanism in sporadic colorectal cancers with chromosomal and microsatellite instability
    Ralph Melcher
    Department of Medicine II, Division of Gastroenterology, University of Wurzburg, Oberdurrbacher Strasse 6, 97080 Wurzburg, Germany
    Carcinogenesis 32:636-42. 2011
    ..In contrast to microsatellite stable (MSS) tumors, only few loss of heterozygosity (LOH) studies were performed in microsatellite instable (MSI) tumors, because MSI carcinomas are generally ..
  53. ncbi Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays
    Wei Wen Cai
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Nat Biotechnol 20:393-6. 2002
    ..The concept of using pre-modification may be generally applied for making arrays of other biological materials, as modifying the substrates will be more controllable in solution than on surfaces...
  54. ncbi Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas
    Yuichi Wakabayashi
    Department of Gene Regulation, Graduate School of Medical and Dental Sciences, Niigata University, Asahimachi 1 757, Niigata 951 8122, Japan
    Biochem Biophys Res Commun 301:598-603. 2003
    ..Introduction of Rit1 into HeLa cells lacking Rit1 expression suppressed cell growth. These results indicate that loss-of-function mutations of Rit1 contribute to mouse lymphomagenesis and possibly to human cancer development...
  55. ncbi Elevated microsatellite alterations at selected tetranucleotides (EMAST) and mismatch repair gene expression in prostate cancer
    Maximilian Burger
    Department of Urology, University of Regensburg, Franz J S Allee 11, 93042, Regensburg, Germany
    J Mol Med (Berl) 84:833-41. 2006
    ..In addition, we investigated p53 gene alterations [loss of heterozygosity (LOH)] and the expression of p53 and the mismatch repair (MMR) genes hMLH1 and hMSH2 on tissue microarrays...
  56. doi Evaluation of cell-free tumour DNA and RNA in patients with breast cancer and benign breast disease
    Heidi Schwarzenbach
    Department of Tumour Biology, University Medical Center Hamburg Eppendorf, Martinistrase 52, Hamburg, Germany
    Mol Biosyst 7:2848-54. 2011
    ..The mean follow-up time of the cancer patients was 6.2 years. Loss of heterozygosity (LOH) at four polymorphic markers (D13S159, D13S280, D13S282 at region 13q31-33 and D10S1765 at PTEN ..
  57. doi Downregulation of metallothionein 1F, a putative oncosuppressor, by loss of heterozygosity in colon cancer tissue
    Dong wang Yan
    Department of General Surgery, Shanghai Jiaotong University Affiliated First People s Hospital, 85 Wujin Road, People s Republic of China
    Biochim Biophys Acta 1822:918-26. 2012
    ..This study is to investigate molecular mechanism of MT gene regulation in colon cancer which is characterized by tumor suppressor gene alterations...
  58. pmc Array-based karyotyping for prognostic assessment in chronic lymphocytic leukemia: performance comparison of Affymetrix 10K2.0, 250K Nsp, and SNP6.0 arrays
    Jill M Hagenkord
    Molecular Pathology and Clinical Genomics, Creighton University Medical Center, Department of Pathology, 601 N 30 Street, Suite 2400, Omaha, NE 68131 2197, USA
    J Mol Diagn 12:184-96. 2010
    ....
  59. pmc No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas
    Christianne M A Reijnders
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    Am J Pathol 177:1946-57. 2010
    ..In this study, we investigated whether osteochondromas arise via either loss of heterozygosity (2 hits) or haploinsufficiency...
  60. doi Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma
    Ivan Pasic
    Institute of Medical Science, Department of Medical Biophysics, University of Toronto, and Program in Genetics and Genome Biology, Department of Pediatric Laboratory Medicine, Division of Hematology Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Cancer Res 70:160-71. 2010
    ..Most (67%) osteo3q13.31 CNAs are deletions, with 75% of these monoallelic and frequently accompanied by loss of heterozygosity (LOH) in flanking DNA...
  61. pmc Cooperativity of Nkx3.1 and Pten loss of function in a mouse model of prostate carcinogenesis
    Minjung J Kim
    Center for Advanced Biotechnology and Medicine and Department of Neuroscience, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA
    Proc Natl Acad Sci U S A 99:2884-9. 2002
    ..Our findings underscore the significance of interactions between tissue-specific regulators such as Nkx3.1 and broad-spectrum tumor suppressors such as Pten in contributing to the distinct phenotypes of different cancers...
  62. pmc Notch1 loss of heterozygosity causes vascular tumors and lethal hemorrhage in mice
    Zhenyi Liu
    Department of Developmental Biology, Washington University in St Louis School of Medicine, St Louis, Missouri, USA
    J Clin Invest 121:800-8. 2011
    ..Our strategy also can be broadly applied to induce sporadic in vivo loss of heterozygosity of any conditional alleles in progenitors that experience Notch1 activation.
  63. doi CIC and FUBP1 mutations in oligodendrogliomas, oligoastrocytomas and astrocytomas
    Felix Sahm
    Department of Neuropathology, Ruprecht Karls Universitat Heidelberg, Im Neuenheimer Feld 220 221, 69120 Heidelberg, Germany
    Acta Neuropathol 123:853-60. 2012
    ..CIC and FUBP1 mutations exclusively occurred in presence of either IDH1 or IDH2 mutations. Our data confirm CIC and FUBP1 mutations in oligodendrogliomas and demonstrate the presence of these mutations in oligoastrocytomas...
  64. ncbi A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer
    C R Boland
    University of California, San Diego, La Jolla 92093 0688, USA
    Cancer Res 58:5248-57. 1998
    ..f) The spectrum of microsatellite alterations in noncolonic tumors was reviewed, and it was concluded that the above recommendations apply only to colorectal neoplasms. (g) A research agenda was recommended...
  65. doi Cytogenetic and molecular aspects of gastric cancer: clinical implications
    Anna D Panani
    Critical Care Department, Medical School of Athens University, Cytogenetics Unit, Evangelismos Hospital, Ipsilandou 45 47, Athens 10676, Greece
    Cancer Lett 266:99-115. 2008
    ..Also, based on molecular data identified in gastric cancer novel therapeutics might help to improve the treatment of this disease...
  66. pmc Comprehensive SNP array study of frequently used neuroblastoma cell lines; copy neutral loss of heterozygosity is common in the cell lines but uncommon in primary tumors
    Hanna Kryh
    Department of Clinical Genetics, The Sahlgrenska Academy, University of Gothenburg, Sahlgrenska University Hospital, SE 41345 Gothenburg, Sweden
    BMC Genomics 12:443. 2011
    Copy neutral loss of heterozygosity (CN-LOH) refers to a special case of LOH occurring without any resulting loss in copy number...
  67. pmc The functional loss of the retinoblastoma tumour suppressor is a common event in basal-like and luminal B breast carcinomas
    Jason I Herschkowitz
    Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, 27599, USA
    Breast Cancer Res 10:R75. 2008
    ..RB1 locus is a well-characterised occurrence in many tumour types; however, its role in breast cancer is less clear with many reports demonstrating a loss of heterozygosity that does not correlate with a loss of RB1 protein expression.
  68. pmc High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene
    Helena Caren
    Department of Clinical Genetics, Institute of Biomedicine, Goteborg University, Sahlgrenska University Hospital, SE 41345 Goteborg, Sweden
    BMC Genomics 9:353. 2008
    ..We have used array-based copy number analysis using oligonucleotide single nucleotide polymorphisms (SNP) arrays to analyze the chromosomal structure of a large number of neuroblastoma tumors of different clinical and biological subsets...
  69. ncbi RASSF1A promoter methylation and 3p21.3 loss of heterozygosity are features of foregut, but not midgut and hindgut, malignant endocrine tumours
    S Pizzi
    Department of Pathology and Laboratory Medicine, University of Parma, Parma, Italy
    J Pathol 206:409-16. 2005
    ..3 deletions by loss of heterozygosity analysis, and cyclin D1 expression by immunohistochemistry...
  70. pmc Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes
    X P Zhou
    Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and the Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH 43210, USA
    Am J Hum Genet 69:704-11. 2001
    ..Almost all available component tumors from mutation-positive cases showed loss of heterozygosity (LOH) in the BMPR1A region, whereas those from mutation-negative cases did not...
  71. pmc Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis
    Rodrigo A Toledo
    Unidade de Endocrinologia Genética, LIM 25, Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil
    Clinics (Sao Paulo) 65:407-15. 2010
    ..However, no detailed investigations of non-pituitary tumors of AIP-mutated patients have been reported so far...
  72. ncbi Persistence of genetically altered fields in head and neck cancer patients: biological and clinical implications
    M P Tabor
    Department of Otolaryngology/Head and Neck Surgery, Vrije Universiteit Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Clin Cancer Res 7:1523-32. 2001
    ..In 28 HNSCC patients, loss of heterozygosity was determined in tumor and five noncontiguous mucosal biopsies using eight microsatellite markers at 9p, ..
  73. ncbi Chromosomal alterations in lung adenocarcinoma from smokers and nonsmokers
    M Sanchez-Cespedes
    Department of Otolaryngology, Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21206-2198, USA
    Cancer Res 61:1309-13. 2001
    ..These observations support the notion that lung cancers in nonsmokers arise through genetic alterations distinct from the common events observed in tumors from smokers...
  74. pmc Downregulation of Rap1GAP through epigenetic silencing and loss of heterozygosity promotes invasion and progression of thyroid tumors
    Hui Zuo
    Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA
    Cancer Res 70:1389-97. 2010
    ..The downregulation was due to promoter hypermethylation and/or loss of heterozygosity, found in the majority of thyroid tumors...
  75. pmc Retention of wild-type p53 in tumors from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation
    S Venkatachalam
    Division of Molecular Virology and Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030, USA
    EMBO J 17:4657-67. 1998
    ..These results indicate that loss of both p53 alleles is not a prerequisite for tumor formation and that mere reduction in p53 levels may be sufficient to promote tumorigenesis...
  76. ncbi Genome-wide analyses on loss of heterozygosity in hepatocellular carcinoma in Southern China
    S P Li
    Department of Hepatobiliary Oncology, Cancer Center, Sun Yat-sen University of Medical Sciences, Guangzhou, People's Republic of China
    J Hepatol 34:840-9. 2001
    BACKGROUND/AIMS: To conduct a genome-wide analysis of loss of heterozygosity (LOH) and its clinical significance in hepatocellular carcinoma (HCC) in Southern China where high incidence of HCC was documented...
  77. doi Integrative approach for prioritizing cancer genes in sporadic colon cancer
    James F Reid
    Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori Milano, Italy
    Genes Chromosomes Cancer 48:953-62. 2009
    ....
  78. pmc Genome-wide DNA copy number analysis in pancreatic cancer using high-density single nucleotide polymorphism arrays
    T Harada
    Centre for Molecular Oncology, Cancer Research UK, Institute of Cancer, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, UK
    Oncogene 27:1951-60. 2008
    ..001). These findings indicate that the dysregulation of SKAP2/SCAP2, which is mostly caused by its increased gene copy number, is likely to be associated with the development of PDAC...
  79. ncbi Tumor suppressor genetics
    Shannon R Payne
    Fred Hutchinson Cancer Research Center, Seattle, WA 90109, USA
    Carcinogenesis 26:2031-45. 2005
    ..Incorporating these new findings into existing models of the clonal evolution will be a challenge for the future...
  80. ncbi Population-based studies on incidence, survival rates, and genetic alterations in astrocytic and oligodendroglial gliomas
    Hiroko Ohgaki
    Pathology Group, International Agency for Research on Cancer HO, F 69372, Lyon, France
    J Neuropathol Exp Neurol 64:479-89. 2005
    ..G:C-->A:T mutations at CpG sites were more frequent in secondary than primary glioblastomas, suggesting that the acquisition of TP53 mutations in these glioblastoma subtypes may occur through different mechanisms...
  81. doi Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations
    Stefania Segditsas
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London WC2A 3PX, UK
    Exp Mol Pathol 85:201-6. 2008
    ..Methylation has been proposed as an alternative to mutation or loss of heterozygosity as a mechanism of gene inactivation...
  82. ncbi Lysyl oxidase is a tumor suppressor gene inactivated by methylation and loss of heterozygosity in human gastric cancers
    Atsushi Kaneda
    Carcinogenesis Division, National Cancer Center Research Institute, Tokyo, Japan
    Cancer Res 64:6410-5. 2004
    ..Here, we analyzed whether or not LOX and HRASLS are tumor suppressor genes in human gastric cancers. Loss of heterozygosity and promoter methylation of LOX were detected in 33% (9 of 27) and 27% (26 of 96) of gastric cancers, ..
  83. ncbi The combination of genetic instability and clonal expansion predicts progression to esophageal adenocarcinoma
    Carlo C Maley
    Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA
    Cancer Res 64:7629-33. 2004
    ..We measured p16 (CDKN2A/INK4A) lesions (loss of heterozygosity, mutations, and CpG island methylation), p53 (TP53) lesions (loss of heterozygosity, mutation) and ploidy ..
  84. doi Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression
    Carla Oliveira
    Institute of Molecular Pathology and Immunology, University of Porto IPATIMUP, Porto, Portugal
    Gastroenterology 136:2137-48. 2009
    ..this occurs via promoter hypermethylation (epigenetic modification), and less frequently via CDH1 mutations and loss of heterozygosity (LOH). We quantified the different 2nd hits in CDH1 occurring in neoplastic lesions from HDGC patients.
  85. pmc Hidden abnormalities and novel classification of t(15;17) acute promyelocytic leukemia (APL) based on genomic alterations
    Tadayuki Akagi
    Division of Hematology and Oncology, Cedars Sinai Medical Center, University of California at Los Angeles School of Medicine, Los Angeles, CA, USA
    Blood 113:1741-8. 2009
    ..Copy-number-neutral loss of heterozygosity (CNN-LOH) was identified at chromosomes 10q (3 cases), 11p (3 cases), and 19q (1 case)...
  86. ncbi High-resolution multi-parameter DNA flow cytometry enables detection of tumour and stromal cell subpopulations in paraffin-embedded tissues
    Willem E Corver
    Department of Pathology, Leiden University Medical Centre, The Netherlands
    J Pathol 206:233-41. 2005
    ..cells from two cervical carcinomas was confirmed by genotyping of flow-sorted samples revealing loss of heterozygosity (LOH) of 6p...
  87. pmc A comprehensive study of chromosome 16q in invasive ductal and lobular breast carcinoma using array CGH
    R Roylance
    Molecular and Population Genetics Laboratory, Cancer Research UK, Lincoln s Inn Fields, London, UK
    Oncogene 25:6544-53. 2006
    ..Higher-grade IDCs probably develop from low-grade lesions in most cases, but there remains evidence that some GII/GIII IDCs arise without a GI precursor...
  88. doi A comprehensive analysis of the CDKN2A gene in childhood acute lymphoblastic leukemia reveals genomic deletion, copy number neutral loss of heterozygosity, and association with specific cytogenetic subgroups
    Sarina Sulong
    Northern Institute for Cancer Research, Newcastle University, Queen Victoria Road, Newcastle upon Tyne, UK
    Blood 113:100-7. 2009
    ..Single nucleotide polymorphism arrays revealed copy number neutral (CNN) loss of heterozygosity (LOH) in 8% of patients...
  89. doi Are there any more ovarian tumor suppressor genes? A new perspective using ultra high-resolution copy number and loss of heterozygosity analysis
    Kylie L Gorringe
    VBCRC Cancer Genetics Laboratory, Research Division, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
    Genes Chromosomes Cancer 48:931-42. 2009
    ..cancer is characterized by complex genetic alterations, including copy number loss and copy number-neutral loss of heterozygosity (LOH)...
  90. pmc The signatures of autozygosity among patients with colorectal cancer
    Manny D Bacolod
    Department of Microbiology, Weill Medical College of Cornell University, New York, NY 10021, USA
    Cancer Res 68:2610-21. 2008
    ....
  91. ncbi hOGG1 polymorphism and loss of heterozygosity (LOH): significance for lung cancer susceptibility in a caucasian population
    H Wikman
    German Cancer Research Center DKFZ, Division of Toxicology and Cancer Risk Factors, Heidelberg, Germany
    Int J Cancer 88:932-7. 2000
    ..2) to a region frequently lost in primary lung tumours, the frequency of loss of heterozygosity (LOH) was investigated...
  92. ncbi Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex
    L S Kirschner
    Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, Maryland, USA
    Nat Genet 26:89-92. 2000
    ..10). In CNC families mapping to 17q, we detected loss of heterozygosity (LOH) in the vicinity of the gene (PRKAR1A) encoding protein kinase A regulatory subunit 1-alpha (RIalpha),..
  93. ncbi Genome-wide phenotype analysis in ES cells by regulated disruption of Bloom's syndrome gene
    Kosuke Yusa
    Department of Social and Environmental Medicine, Graduate School of Medicine, Osaka University, Suita, Osaka 565 0871, Japan
    Nature 429:896-9. 2004
    ..Cells deficient in the Bloom's syndrome gene (Blm) show an increased rate of loss of heterozygosity. Here we have used a tetracycline-regulated Blm allele (Blm(tet)) to introduce bi-allelic mutations across ..
  94. ncbi Single nucleotide polymorphism array analysis of cancer
    Amit Dutt
    Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge 02142, USA
    Curr Opin Oncol 19:43-9. 2007
    ..With the resolution of these arrays increasing exponentially, they are becoming increasingly powerful tools for describing the genetic events underlying cancer...
  95. pmc NSAIDs modulate CDKN2A, TP53, and DNA content risk for progression to esophageal adenocarcinoma
    Patricia C Galipeau
    Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America
    PLoS Med 4:e67. 2007
    ..We aimed to evaluate somatic genetic abnormalities with NSAIDs as predictors of EA in a prospective cohort study of patients with BE...
  96. pmc Chromosome 3p loss of heterozygosity is associated with a unique metabolic network in clear cell renal carcinoma
    Francesco Gatto
    Department of Chemical and Biological Engineering, Chalmers University of Technology, 41296 Goteborg, Sweden
    Proc Natl Acad Sci U S A 111:E866-75. 2014
    ..Notably, this behavior is recapitulated by recurrent loss of heterozygosity in multiple metabolic genes adjacent to VHL...
  97. ncbi TP53 and gastric carcinoma: a review
    C M Fenoglio-Preiser
    Department of Pathology, College of Medicine, University of Cincinnati, Cincinnati, Ohio 45267 0529, USA
    Hum Mutat 21:258-70. 2003
    ..These include p53 expression, mutations, and loss of heterozygosity (LOH)...
  98. doi Chromosomal instability (CIN) phenotype, CIN high or CIN low, predicts survival for colorectal cancer
    Toshiaki Watanabe
    Department of Surgical Oncology, The University of Tokyo, 7 3 1, Hongo, Bunkyo ku, Tokyo, 113 8655, Japan
    J Clin Oncol 30:2256-64. 2012
    ..To examine whether chromosomal instability (CIN) phenotype, determined by the severity of CIN, can predict survival for stages II and III colorectal cancer (CRC)...
  99. ncbi Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas
    Jesus Lomas
    Laboratorio de Oncogenética Molecular y Epigenética del Cáncer, Departamento de C Experimental, Unidad de Investigacion, Hospital Universitario La Paz, Madrid, Spain
    Genes Chromosomes Cancer 42:314-9. 2005
    ..Aberrant NF2 methylation with loss of heterozygosity (LOH) at 22q was found in five cases, and aberrant methylation with NF2 mutation in another; LOH 22q and ..
  100. pmc Break-induced loss of heterozygosity in fission yeast: dual roles for homologous recombination in promoting translocations and preventing de novo telomere addition
    Jason K Cullen
    MRC Radiation Oncology and Biology Unit, Harwell, Didcot, Oxfordshire OX11 0RD, United Kingdom
    Mol Cell Biol 27:7745-57. 2007
    b>Loss of heterozygosity (LOH), a causal event in tumorigenesis, frequently encompasses multiple genetic loci and whole chromosome arms. However, the mechanisms leading to such extensive LOH are poorly understood...
  101. pmc Genetic instability in lung cancer: concurrent analysis of chromosomal, mini- and microsatellite instability and loss of heterozygosity
    H Ninomiya
    Department of Pathology, The Cancer Institute, Japanese Foundation for Cancer Research JFCR, 3 10 6 Ariake, Koto ku, Tokyo 135 8550, Japan
    Br J Cancer 94:1485-91. 2006
    ..plays important roles in lung carcinogenesis, we analyzed micro- and minisatellite instability, loss of heterozygosity (LOH) and chromosome instability in 55 cases of lung cancer, including, 10 squamous cell, 5 large cell, ..

Research Grants67

  1. Role of Diabetes in Development of Renal Cell Carcinoma
    SAMY LEWIZ HABIB; Fiscal Year: 2013
    ..Indeed, loss of heterozygosity at the OGG1 allele was found in human renal clear cell carcinoma (RCC) identifying loss of OGG1 function ..
  2. Molecular Analysis of NeoAdjuvant Platinum in Triple Negative Breast Cancer
    MARK DANIEL contact PEGRAM; Fiscal Year: 2010
    ..This approach will allow identification of specific copy number variations and loss of heterozygosity, and their relation to gene expression changes...
  3. Role of ORCA in DNA replication
    Supriya Gangadharan Prasanth; Fiscal Year: 2013
    ..a region that is frequently amplified in esophageal squamous cell carcinoma or shows rearrangements and loss of heterozygosity in myelodysplasia and acute leukemia...
  4. Mechanisms of Genetic Reversion in Ichthyosis With Confetti
    Keith A Choate; Fiscal Year: 2013
    ..of normal skin which increase in number and size over time and which are the result of copy-neutral loss of heterozygosity (LOH) events...
  5. Role of U19/Eaf2 in androgen-dependent prostate homeostasis
    Zhou Wang; Fiscal Year: 2013
    ..Elucidating the androgen pathway in the prostate will provide insights into the mechanisms by which androgens influence BPH and prostate cancer, leading to more effective prevention and treatment of the diseases. ..
  6. Functional and Clinical Analysis of Rak in Breast Cancer Suppression
    Shiaw Yih Lin; Fiscal Year: 2011
    ..Moreover, Rak is located on chromosome 6q21-23, a region that undergoes loss of heterozygosity in 30% of breast cancer cases...
  7. Analyses of Progression to Colon Cancer in a Spectrum of Pathways
    WILLIAM FRANKLIN DOVE; Fiscal Year: 2012
    ..Signatures that can discriminate between tumors that vary in neoplastic potential are particularly important to discern. ..
  8. Role of PALB2 in the DNA damage response and breast cancer suppression
    Bing Xia; Fiscal Year: 2013
    ..breast cancer? 3) Is PALB2 a haploinsufficient breast cancer suppressor, given that little evidence of loss of heterozygosity (LOH) has been found in PALB2-associated human breast tumors? 4) Does PALB2 suppress tumorigenesis in the ..
  9. TGFBR1 Signaling in Colorectal Cancer
    Boris Pasche; Fiscal Year: 2013
    ..only identified among ApcMin/+;Tgfbr1+/- mice, not among ApcMin/+;Tgfbr1+/+ mice and tumors do not exhibit loss of heterozygosity at the Tgfbr1 locus...
  10. MicroRNAs and chromosome 22q in the colon
    Anil K Rustgi; Fiscal Year: 2012
    ..We have genetically and physically mapped a region of loss of heterozygosity (LOH) on chromosome 22q13...
  11. Analysis of replication fork-collapse in yeast by site-specific DNA nicking
    RANJITH PRASAD ANAND; Fiscal Year: 2013
    ..Replication associated HR can lead to undesirable outcomes such as translocations, deletions, loss of heterozygosity and copy number variation (CNV) which are clearly linked to genome instability and diseases such as cancer...
  12. Genetic Mouse Models of Glioma
    Luis F Parada; Fiscal Year: 2013
    ..inactivation of human astrocytoma-relevant tumor suppressors p53, Nf1, and Pten, wherein through somatic loss of heterozygosity, mutant mice develop tumors that histologically and molecularly resemble human astrocytomas with 100% ..
  13. Bladder Cancer Prognostic Indicators
    Angeline Andrew; Fiscal Year: 2009
    ..b) environmental exposures such as smoking and arsenic, and c) the somatic markers: p53 expression and loss of heterozygosity (LOH) of chromosome 9q...
  14. Determinants of Efficacy to the Akt Inhibitor Perifosine in Colorectal Cancer
    Cathy Eng; Fiscal Year: 2012
    ..activated (overexpression and mutation), altered by PI3K (mutation), and/or loss of PTEN (mutation, loss of heterozygosity, or methylation)...
  15. RECOMBINATION IN YEAST
    THOMAS PETES; Fiscal Year: 2013
    ..In cells heterozygous for a tumor suppressor gene, mitotic recombination can lead to loss of heterozygosity (LOH), resulting in a cancer-prone homozygous cell...
  16. Defining the Molecular Mechanisms of KLF17 Regulation and Function in EMT
    Qihong Huang; Fiscal Year: 2013
    ..The human KLF17 gene is located at chromosome 1p34 where allelic loss of heterozygosity (LOH) correlates with poor prognosis in breast cancer...
  17. Mechanisms of Mitotic Recombination
    JEFF JOSEPH SEKELSKY; Fiscal Year: 2013
    ..Mitotic crossing over is detrimental because it can lead to loss of heterozygosity or chromosome rearrangement, both of which are associated with cancer...
  18. Aging of S. cerevisiae in a Dynamically Changing Environment
    Natalie A Cookson; Fiscal Year: 2013
    ..We will use a modified fluorescent protein that senses oxidative state along with our dynamic microfluidic platform to determine how life span is related to the period of metabolic oscillations in yeast. ..
  19. mTOR signaling and sporadic chordomas
    Sangyeul Han; Fiscal Year: 2010
    ..we aim to examine mutations in candidate genes, including PTEN, TSC1, and TSC2, by direct sequencing and loss of heterozygosity (LOH) assays in 30 sporadic chordomas...
  20. ORAL CANCER: MOLECULAR PROFILES & CLINICAL OUTCOMES
    Chu Chen; Fiscal Year: 2010
    ..3: Assess genome-wide loss of heterozygosity (LOH) and copy number aberration (CNA) in relation to clinical characteristics of OSCC, such as tumor size,..
  21. Clinical evaluation of a bioadhesive gel for oral cancer chemoprevention.
    Susan R Mallery; Fiscal Year: 2010
    ..5 gm 4-times per day for 6 weeks). Trial data show that gel application significantly reduced loss of heterozygosity indices (LOH) at loci associated with tumor suppressor genes, decreased histologic grades of lesional ..
  22. ENZYMATIC MECHANISMS OF GENETIC RECOMBINATION
    Richard D Kolodner; Fiscal Year: 2013
    ..underlie different inherited genetic diseases, as mutations that drive the development of cancer and as loss of heterozygosity events that uncover recessive mutations in tumor suppressor genes...
  23. THE TUMOR ANTIGENS TN AND SIALYLTN IN HUMAN COLORECTAL CARCINOMA
    Tongzhong Ju; Fiscal Year: 2013
    ..This project will define the molecular basis for Tn and STn expression in CRC and their potential as novel glycan biomarkers for human colon cancer. ..
  24. New Familial Colon Cancer Gene Discovery Via Combined Linkage and SNP Association
    Sanford D Markowitz; Fiscal Year: 2012
    ..of either a tumor suppressor gene {or an oncogene} by examining this interval for, respectively, either loss of heterozygosity (LOH) {or for increased gene copy number} in the tumors arising in kindreds that show linkage to the ..
  25. Screen for Small Molecule Inhibitors of ATP Dependent Chromatin Remodeling
    Gerald R Crabtree; Fiscal Year: 2012
    ..BAF complex subunits are also tumor suppressors and undergo loss of heterozygosity in certain human malignancies...
  26. Echinocandin Reduced/Increased Susceptibility: Mechanism
    Santosh Kumar Katiyar; Fiscal Year: 2013
    ..MIS) at high frequency, and lipid analysis/DNA sequencing implicated sphingolipid pathway gene TSC13/tsc13 loss of heterozygosity;and (b) an Aspergillus nidulans basA(Sur2) mutant exhibited 2-fold CRS, 8-fold MIS...
  27. Gene mutation and rescue in human diaphragmatic hernia
    Patricia K Donahoe; Fiscal Year: 2010
    ..for mutational analysis of candidate genes, arrayed based Comparative Genomic Hybridization (aCGH), loss of heterozygosity studies (LOH), and metaphase preparations for subtelomeric FISH...
  28. Genetics of Juvenile Idiopathic Arthritis and Subtypes
    Susan D Thompson; Fiscal Year: 2010
    ..SNP-by-gender interaction, SNP-by-HLA interaction and SNP-by-SNP interactions;3) identifying regions of loss of heterozygosity and copy number variation predictive of JIA and its subtypes;and 4) computing GWA for expression ..
  29. Mechanisms of subtelomere recombination in telomerase deficient tumors
    Tammy A Morrish; Fiscal Year: 2012
    ..These characteristics include loss of heterozygosity, non-reciprocal translocations, and segmental duplications...
  30. Mechanisms of subtelomere recombination in telomerase deficient tumors
    Tammy A Morrish; Fiscal Year: 2013
    ..These characteristics include loss of heterozygosity, non-reciprocal translocations, and segmental duplications...
  31. Selection For Drug Resistance To Study Genetic Instability
    DARIO CABRERA; Fiscal Year: 2010
    ..in haploid strains? 2) What forms of genetic instability results from strong, sequential selection for loss of heterozygosity in diploid cells? 3) How does this differ from the outcome of strong, sequential selection for loss of ..
  32. Dmp1-p53/YY1 interplays and their roles in lung cancer development
    Guangchao Sui; Fiscal Year: 2013
    ..doxycycline-inducible YY1-transgenic mice and crossing with Dmp1-deficient mice;and Aim 4: To study loss of heterozygosity (LOH) of hDMP1 and overexpression of YY1 in samples from patients with non-small-cell lung cancer and ..
  33. Dissecting the mechanism of increased genomic instability in aging yeast
    Daniel E Gottschling; Fiscal Year: 2013
    ..Specifically, we examined the relationship between aging and genomic instability by monitoring loss of heterozygosity (LOH) on different chromosomes during replicative aging in yeast...
  34. How eukaryotic pathogens explore the fitness landscape by mitotic recombination
    Tim James; Fiscal Year: 2013
    ..Mitotic recombination causes loss of heterozygosity (LOH), making it counterintuitive that it could be adaptive...
  35. Genetic regulation of genome stability in yeast
    THOMAS PETES; Fiscal Year: 2013
    ..events in diploid strains in which the two homologous chromosomes are not identical result in loss of heterozygosity (LOH)...
  36. Cancer Genomics Center
    Raju Kucherlapati; Fiscal Year: 2009
    ..It is well established that regions of the cancer genome that are amplified or show loss of heterozygosity or deletion harbor genes that are important for tumor initiation and progression...
  37. Genome-wide map of Genetic Alteration in Human Pulmonary Hypertension Lungs
    Christopher D Coldren; Fiscal Year: 2010
    ..We and others have demonstrated that genetic alterations such as loss of heterozygosity (LOH), gene amplification or deletion, aneuploidy, and uniparental isodisomy can be efficiently ..
  38. Endothelial Progenitor-derived Endothelial Cells as a Model for Familial CCM
    Christopher F Dibble; Fiscal Year: 2013
    ..RNAi-mediated loss of heterozygosity by knockdown of the wild-type allele will then be used to define the pathophysiology of bi-allelic loss of ..
  39. Genome-wide promoter methylation profiling of glioma
    Albert Lai; Fiscal Year: 2012
    ..glioblastomas, and normal brain samples, 2) to determine genome-wide methylation, gene expression, and loss of heterozygosity (LOH) profiles associated with response to a novel upfront therapy combining bevacizumab with radiation ..
  40. Analyzing allele specific gene expression and regulation in C. albicans.
    SADIE LYNNE MARJANI; Fiscal Year: 2010
    ..Relevance: A hallmark of cancer is genome instability. This can be caused by hypomethylation and/or loss of heterozygosity. Moreover, it is common for specific chromosomes and specific chromosomal regions to be preferentially ..
  41. Genetic Alterations in Families with Multiple Lymphomas
    Jennifer Brown; Fiscal Year: 2009
    ..germline DMA, and tumor tissue;(2) to investigate whether familial lymphomas have characteristic sites of loss of heterozygosity and to attempt to identify candidate genes within those regions;(3) to investigate whether familial ..
  42. Mechanisms of Mitotic Recombination
    JEFF JOSEPH SEKELSKY; Fiscal Year: 2010
    Mitotic crossing over is detrimental because it can lead to loss of heterozygosity or chromosome rearrangement, both of which are associated with cancer...
  43. Validation of copy number changes by MLPA as predictors of relapse in Wilms tumor
    Elizabeth J Perlman; Fiscal Year: 2012
    ..Approximately 15% of FHWT relapse, and of these only 50% survive. Currently, loss of heterozygosity (LOH) for chromosomes 1p and 16q have been demonstrated and validated to be associated with poor outcome ..
  44. Breast Cancer Risk and Molecular Change After Chernobyl
    Scott Davis; Fiscal Year: 2012
    ..from tissue and blood samples to assess breast cancer characteristics, including hormone receptor status, loss of heterozygosity, gene amplification, and epigenetic gene inactivation, and to estimate the association between these ..
  45. Genomic hypermutability in Candida albicans
    Meleah A Hickman; Fiscal Year: 2012
    ..This resistance frequently arises by major genome changes (e.g. loss of heterozygosity or aneuploidy, an imbalance in the number of chromosomes)...
  46. Dissecting the metastasis suppressor complex to identify colon cancer biomarkers
    Sam Thiagalingam; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Loss of heterozygosity (LOH) analysis and follow up studies of sporadic colon cancer enabled us to show that SMAD4 is the primary target tumor suppressor, localized to the minimally lost region at ..
  47. Pancreatic Cancer Genetic Epidemiology Consortium (PACGENE)
    Gloria M Petersen; Fiscal Year: 2012
    ..regions identified through linkage analyses (including chromosomes 2p, 2q, and 10q);b) Perform genomewide loss of heterozygosity allelotyping of microdissected early stage tumors (PanINs and IPMNs) from FPC probands (comparing tumor to ..
  48. Novel Gene Networks in Breast Development and Cancer
    Steffi Oesterreich; Fiscal Year: 2009
    ..role of the SAFB scaffold attachment factors, whose genetic locus we have found to show the highest loss of heterozygosity yet reported in breast cancer; 3) targeting IGF-I and its cross-talk with the estrogen pathway in ..
  49. Molecular Epidemiology of Secondary Lung Cancer
    Peter Shields; Fiscal Year: 2007
    ..e., mutational spectra and loss of heterozygosity) in lung tumors of women with a prior history of breast cancer (n=402) and; 3) to determine the frequency ..
  50. Mechanism of increase genomic instability in aging yeast
    Daniel E Gottschling; Fiscal Year: 2010
    ..Specifically, we examined the relationship between aging and genomic instability by monitoring loss of heterozygosity (LOH) on two different chromosomes during replicative aging in yeast...
  51. Discovery of Chromosome Arm 11q Tumor Suppressor Genes in Neuroblastoma
    Edward F Attiyeh; Fiscal Year: 2010
    ..Most invasive neuroblastomas are defined either by MYCN amplification (40%) or 11q loss of heterozygosity (30%), but rarely do these occur in the same tumor...
  52. Genetics and pathobiology of ichthyosis en confetti
    Keith A Choate; Fiscal Year: 2012
    ..of the causative mutation, permitting mapping of the disease locus by identifying overlapping regions of loss of heterozygosity in single nucleotide polymorphism array analysis of DNA prepared from revertant white spots compared to ..
  53. CLINICAL CORRELATIVE STUDIES OF NEUROBLASTOMA
    ROBERT CHARLES SEEGER; Fiscal Year: 2010
    ..2) Determine if DNA signatures based upon loss of heterozygosity and copy number abnormalities predict PFS and if combining DNA and RNA signatures improves accuracy of ..
  54. EphB2 as a Prostate Cancer tumor Suppressor and Risk Factor in African Americans
    John Carpten; Fiscal Year: 2009
    ..2. To evaluate loss of heterozygosity (LOH) at the EphB2 locus in PC tumors from familial and sporadic AA cases. 3...
  55. Break-induced replication and genome rearrangements
    Lorraine S Symington; Fiscal Year: 2013
    ..repair of DSBs usually occurs by a conservative gene conversion mechanism, preventing extensive loss of heterozygosity (LOH) or chromosome rearrangements...
  56. Tracking Cancer Stem Cell Evolution
    John Welsh; Fiscal Year: 2009
    ..This will be done by using extensive microdissection and measurement of loss of heterozygosity (LOH) in widely sampled regions of the tumor...
  57. RENAL CYST PATHOGENESIS IN TSC, VHL, AND ADPKD
    ELIZABETH HENSKE; Fiscal Year: 1999
    ..Renal cell carcinoma causes 10,000 deaths annually in the United States. Loss of heterozygosity (LOH) analyses are consistent with a tumor suppressor function for the TSC and VHL genes...
  58. Harvard Genome Characterization Center
    Raju S Kucherlapati; Fiscal Year: 2013
    ..It is well established that regions of the cancer genome that are amplified or show loss of heterozygosity or deletion harbor genes that are important for tumor initiation and progression...
  59. ISOLATION OF A SECOND WILMS TUMOR SUPPRESSOR GENE
    Bernard Weissman; Fiscal Year: 2001
    ..5. Other studies have placed translocations in Beckwith-Weidemann Syndrome patients and loss of heterozygosity for Wilms tumor samples in this same region...
  60. Functional analysis of the CYLD tumor suppressor
    JULIDE CELEBI; Fiscal Year: 2009
    ..Germline mutations in CYLD have been demonstrated in families with FC, and loss of heterozygosity at the CYLD locus has been found in these neoplasms, suggesting that CYLD functions as a tumor suppressor...
  61. Micro RNA Expression and Cancer
    Thomas Schmittgen; Fiscal Year: 2005
    ..Northern blotting demonstrated that the expression of miR15 and miR16 was reduced in CLL patients with loss of heterozygosity (LOH) at 13q14...
  62. Proteomic Validation of the Min Mouse Model of Colon Cancer
    Anthony Yeung; Fiscal Year: 2007
    ..polyposis coli) and will most likely develop colon cancer in his/her lifetime often because of loss of heterozygosity that inactivates the remaining APC allele...
  63. TUMOR SUPPRESSORS AND IMPRINTING AT CHROMOSOME 11P155
    Michael Higgins; Fiscal Year: 2000
    DESCRIPTION (Adapted from investigator's abstract): Loss of heterozygosity (LOH) in pediatric and adult tumors indicates that chromosome band 11p15.5 harbors one or more growth or tumor suppressor genes...
  64. Skin Manifestations of Tuberous Sclerosis
    Jack Arbiser; Fiscal Year: 2009
    ..While some of the lesions in this disorder show the classic loss of heterozygosity for tumor suppressor genes, many other lesions do not...
  65. The Human Colorectal Instabilitome
    Stephen Meltzer; Fiscal Year: 2007
    ..a To demonstrate biallelic inactivation of genes showing frequent frameshift mutation by analyzing for loss of heterozygosity, point mutation, and altered expression; 2...
  66. ISOLATION OF THE GENE FOR MULTIPLE ENDOCRINE NEOPLASIA 1
    Allen Bale; Fiscal Year: 1993
    ..Larsson et al. recently mapped the MEN1 gene to chromosome 11q by linkage studies and showed loss of heterozygosity for chromosome 11 RFLPs in two tumors from MEN1 patients...
  67. Mode of Action of SQSTM1 Mutations in Paget's Disease Bone
    Marc Hansen; Fiscal Year: 2007
    ..as a dominant negative or haploinsufficiency mutation, or as a recessive mutation that has undergone loss of heterozygosity in the affected bone. We were curious as to the nature of the mutation in the affected bone...