Genomes and Genes
Affiliation: University of Pennsylvania
- Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumoursNelly Sabbaghian
Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada
BMC Res Notes 6:127. 2013..To further explore the importance of DICER1 mutations in the etiology of testicular germ cell tumors (TGCT), we studied germ-line DNA samples from 43 probands diagnosed with familial TGCT...
- Comprehensive characterization of the DNA amplification at 13q34 in human breast cancer reveals TFDP1 and CUL4A as likely candidate target genesLorenzo Melchor
Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Center CNIO, Madrid, E 28029, Spain
Breast Cancer Res 11:R86. 2009..These genomic aberrations may drive carcinogenesis through the upregulation of proto-oncogenes. We have characterized DNA amplification at the human chromosomal region 13q34 in breast cancer...
- Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriersSusan L Neuhausen
Department of Epidemiology, University of California Irvine, 224 Irvine Hall, Irvine, CA 92697, USA
Breast Cancer Res 11:R76. 2009..In this study, we investigate the association of variants in genes involved in IGF signaling and risk of breast cancer in women who carry deleterious BRCA1 and BRCA2 mutations...
- Using genetics and genomics strategies to personalize therapy for cancer: focus on melanomaKatherine L Nathanson
351 BRB 2 3, University of Pennsylvania School of Medicine, 421 Curie Blvd, Philadelphia, PA 19104, United States
Biochem Pharmacol 80:755-61. 2010..However in the future, personalized medicine will use a combination of inherited and somatic genetics to select the optimal tailored therapy for each patient...
- The Y deletion gr/gr and susceptibility to testicular germ cell tumorKatherine L Nathanson
Department of Medicine, Abramson Family Cancer Research Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
Am J Hum Genet 77:1034-43. 2005..0; 95% CI 1.6-5.4; P = .0004) than with nonseminoma TGCT (aOR 1.5; 95% CI 0.72-3.0; P = .29). These data indicate that the Y microdeletion gr/gr is a rare, low-penetrance allele that confers susceptibility to TGCT...
- Diagnosis of adult hereditary pulmonary disease and the role of genetic testingParina Shah
Hospital of the University of Pennsylvania, 3400 Spruce St, 100 Centrex, Philadelphia, PA 19104, USA
Chest 137:976-82. 2010..This article describes diagnosis of rare hereditary pulmonary disease in adults and the role of genetic testing. A summary on coding and reimbursement is included...
- Biallelic TSC gene inactivation in tuberous sclerosis complexPeter B Crino
Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
Neurology 74:1716-23. 2010..Loss of TSC1 or TSC2 in vitro and in vivo leads to mTORC1 cascade activation and ribosomal protein S6 phosphorylation (P-S6). Giant cells (GCs) in tubers exhibit S6 phosphorylation, suggesting cell-specific loss of TSC gene function...
- Therapeutic approaches for women predisposed to breast cancerKatherine L Nathanson
Department of Medicine and Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Annu Rev Med 62:295-306. 2011..PARP inhibitors represent a novel therapeutic strategy that exploits the weaknesses of BRCA1/2-associated malignancies...
- Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriersTimothy R Rebbeck
Abramson Cancer Center, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
Cancer Res 69:5801-10. 2009..026). Variants in genes that interact biologically withBRCA1 and/or BRCA2 may be associated with modified ovarian cancer risk in women who carry BRCA1/2 mutations...
- BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinicHelen A Shih
Abramson Family Cancer Research Institute and Department of Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
J Clin Oncol 20:994-9. 2002..To determine the prevalence of BRCA1 and BRCA2 mutations in families identified in a breast cancer risk evaluation clinic...
- The tuberous sclerosis complexPeter B Crino
Department of Neurology, University of Pennsylvania Medical Center, Philadelphia 19104, USA
N Engl J Med 355:1345-56. 2006
- Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinicGabriel A Brooks
School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Cancer Biol Ther 5:1098-102. 2006..Biallelic mutations of BRCA2 are a cause of Fanconi anemia and characteristic childhood cancers. We undertook this study to evaluate the contribution of familial BRCA mutations to childhood cancer in hereditary breast cancer families...
- Somatic genetic changes in association with testicular germ cell tumor prognosisKatherine L Nathanson
Division of Medical Genetics, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Cancer Biol Ther 3:1159-61. 2004
- The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer familiesMaurizia Dalla Palma
Division of Medical Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Cancer Res 68:7006-14. 2008..Whereas these findings should be confirmed in larger sample sets, our data suggest that genomic rearrangement testing be considered in all non-Ashkenazi Jewish women with an estimated mutation prevalence >or=10%...
- CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5qKatherine L Nathanson
Department of Medicine, Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Hum Mol Genet 11:1327-32. 2002..The approach described here may be utilized to identify penetrance modifiers in other autosomal dominant syndromes...
- Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomasKeiran S M Smalley
The Wistar Institute, 3601 Spruce Street, Philadelphia, PA 19104, USA
Mol Cancer Ther 7:2876-83. 2008....
- Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancerPeter A Kanetsky
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Nat Genet 41:811-5. 2009..All of the genotypes were associated with both seminoma and nonseminoma TGCT subtypes. These results demonstrate that common genetic variants affect TGCT risk and implicate KITLG and SPRY4 as genes involved in TGCT susceptibility...
- The mitogen-activated protein/extracellular signal-regulated kinase kinase inhibitor AZD6244 (ARRY-142886) induces growth arrest in melanoma cells and tumor regression when combined with docetaxelNikolas K Haass
The Wistar Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Clin Cancer Res 14:230-9. 2008..This study addresses the anti-melanoma activity of the MEK inhibitor AZD6244 (ARRY-142886)...
- Active Notch1 confers a transformed phenotype to primary human melanocytesChelsea C Pinnix
Wistar Institute, Philadelphia, PA 19104, USA
Cancer Res 69:5312-20. 2009..This new information yields valuable insight into the basic epidemiology of melanoma and launches a realm of possibilities for drug intervention in this deadly disease...
- Pheochromocytoma: the expanding genetic differential diagnosisJennifer Bryant
Division of Medical Genetics, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia 19104, USA
J Natl Cancer Inst 95:1196-204. 2003....
- Identification of a novel subgroup of melanomas with KIT/cyclin-dependent kinase-4 overexpressionKeiran S M Smalley
The Wistar Institute, 3601 Spruce Street, Philadelphia, PA 19104, USA
Cancer Res 68:5743-52. 2008..This group of melanomas may be a subpopulation for which imatinib or other KIT inhibitors may constitute optimal therapy...
- Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibilityMieke Schutte
Department of Medical Oncology, Erasmus Medical Center, Rotterdam, The Netherlands
Am J Hum Genet 72:1023-8. 2003..These results indicate that 1100delC may be the only CHEK2 allele that makes an appreciable contribution to breast cancer susceptibility...
- Genome-wide linkage screen for testicular germ cell tumour susceptibility lociGillian P Crockford
Genetic Epidemiology Division, Cancer Research UK Clinical Centre, St James s University Hospital, Leeds, UK
Hum Mol Genet 15:443-51. 2006..Overall, the results indicate that no single major locus can account for the majority of the familial aggregation of TGCT, and suggests that multiple susceptibility loci with weak effects contribute to the disease...
- Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutationsHanne Meijers-Heijboer
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
Nat Genet 31:55-9. 2002....
- Resolving ATM haplotypes in whitesRichard Letrero
Am J Hum Genet 72:1071-3. 2003
- Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation programMarcia S Brose
Department of Medicine and Abramson Family Cancer Research Institute, University of Pennsylvania Cancer Center, Philadelphia 19104, USA
J Natl Cancer Inst 94:1365-72. 2002..The purpose of this study was to estimate BRCA1-related cancer risks for individuals ascertained in a breast cancer risk evaluation clinic...
- The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytomaMary Alice Abbott
Division of Human Genetics, University of Connecticut Health Center, Farmington, Connecticut 06119, USA
Am J Med Genet A 140:685-90. 2006..This series of eight patients strengthens the correlation between the V84L mutation and the VHL type 2C phenotype, and improves our ability to provide prognostic and management recommendations for similarly affected individuals...
- A genome wide linkage search for breast cancer susceptibility genesPaula Smith
CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
Genes Chromosomes Cancer 45:646-55. 2006..They also indicate that no single gene is likely to account for a large fraction of the familial aggregation of breast cancer that is not due to mutations in BRCA1 or BRCA2...
- An evaluation of BRCA1 and BRCA2 founder mutations penetrance estimates for breast cancer among Ashkenazi Jewish womenMonica R McClain
Foundation for Blood Research, Scarborough, Maine, USA
Genet Med 7:34-9. 2005..Reported estimates of the magnitude of this risk vary widely. We describe an integrated approach for assessing the plausibility of these estimates...
- A multicenter study of cancer incidence in CHEK2 1100delC mutation carriersDeborah Thompson
Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Worts Causeway, Cambridge, CB1 8RN, United Kingdom
Cancer Epidemiol Biomarkers Prev 15:2542-5. 2006..Our results suggest that the risk of cancer associated with CHEK2 1100delC mutations is restricted to breast cancer, although we cannot rule out a small increase in overall cancer risk...
- Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysisMarcelo A Carvalho
Risk Assessment, Detection, and Intervention Program, H Lee Moffitt Cancer Center, University of South Florida College of Medicine, 12902 Magnolia Drive, Tampa, FL 33612, USA
Cancer Res 67:1494-501. 2007..These results bring functional assays for BRCA1 closer to clinical applicability...
- Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implicationsMonica R McClain
Foundation for Blood Research, Scarborough, Maine, USA
Genet Med 7:28-33. 2005..Assuring reliability of information about these mutations is increasingly important to the health care community; mutation testing is becoming more widespread. We describe a methodology for assessing such information...
- Network modeling links breast cancer susceptibility and centrosome dysfunctionMiguel Angel Pujana
Center for Cancer Systems Biology CCSB, Dana Farber Cancer Institute and Department of Genetics, Harvard Medical School, 44 Binney St, Boston, Massachusetts 02115, USA
Nat Genet 39:1338-49. 2007..Our network modeling strategy should be useful for the discovery of additional cancer-associated genes...
- Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumorsRachel Linger
Testicular Cancer Genetics Team, Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
Genes Chromosomes Cancer 47:247-52. 2008..Whether it is disease-causing or not, mutations in DND1 make, at most, a very small contribution to TGCT susceptibility in adults and adolescents...
- Estrogen receptor status could modulate the genomic pattern in familial and sporadic breast cancerLorenzo Melchor
Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center CNIO, Madrid, Spain
Clin Cancer Res 13:7305-13. 2007....
- Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersAntonis C Antoniou
Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
Am J Hum Genet 82:937-48. 2008....
- Application of a BRAF pyrosequencing assay for mutation detection and copy number analysis in malignant melanomaCynthia Spittle
Clinical Translational Medicine, Oncology, Wyeth Research, 500 Arcola Rd, Collegeville, PA 19426, USA
J Mol Diagn 9:464-71. 2007..Pyro-sequencing serves as an excellent platform for BRAF genotyping of tumors from patients entering clinical trial...
- IDENTIFYING MODIFYING GENES IN BRCA1 MUTATION CARRIERSKatherine Nathanson; Fiscal Year: 2005..abstract_text> ..
- Using array CGH to identify prostate cancer genesKatherine Nathanson; Fiscal Year: 2005....