N M Lindor

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. ncbi Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors
    Noralane M Lindor
    Department of Medical Genetics, Mayo Foundation, Rochester, MN 55905, USA
    J Clin Oncol 20:1043-8. 2002
  2. doi Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disorders
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Best Pract Res Clin Gastroenterol 23:75-87. 2009
  3. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
  4. pmc BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management
    Noralane M Lindor
    Department of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona 85259, USA
    Oncologist 18:518-24. 2013
  5. pmc Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
    Noralane M Lindor
    Department of Health Science Research, Mayo Clinic Arizona
    Hered Cancer Clin Pract 10:13. 2012
  6. doi Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations
    Noralane M Lindor
    Department of Health Science Research, Mayo Clinic Arizona, 13400 E Scottsdale Blvd, Scottsdale, AZ 85259, USA
    Fam Cancer 11:667-9. 2012
  7. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
  8. pmc Colorectal tumour microsatellite instability test results: perspectives from patients
    Noralane M Lindor
    Department of Medical Genetics, Mayo Foundation, Rochester, Minnesota
    Hered Cancer Clin Pract 2:69-75. 2004
  9. pmc Parent of origin effects on age at colorectal cancer diagnosis
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA
    Int J Cancer 127:361-6. 2010
  10. pmc Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic, Rochester, Minn, USA
    JAMA 293:1979-85. 2005

Research Grants

  1. FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUP
    Noralane Lindor; Fiscal Year: 2007

Detail Information

Publications62

  1. ncbi Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors
    Noralane M Lindor
    Department of Medical Genetics, Mayo Foundation, Rochester, MN 55905, USA
    J Clin Oncol 20:1043-8. 2002
    ..To compare microsatellite instability (MSI) testing with immunohistochemical (IHC) detection of hMLH1 and hMSH2 in colorectal cancer...
  2. doi Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disorders
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Best Pract Res Clin Gastroenterol 23:75-87. 2009
    ..Knowledge of these entities may assist clinicians to recognize and manage cases that do not fit into the more common syndromes of colorectal cancer predisposition...
  3. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
    ..2)...
  4. pmc BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management
    Noralane M Lindor
    Department of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona 85259, USA
    Oncologist 18:518-24. 2013
    ..A statistically rigorous model that provides a pathogenicity score for each variant has been developed to aid in the clinical management of patients undergoing genetic testing...
  5. pmc Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
    Noralane M Lindor
    Department of Health Science Research, Mayo Clinic Arizona
    Hered Cancer Clin Pract 10:13. 2012
    ..We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome...
  6. doi Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations
    Noralane M Lindor
    Department of Health Science Research, Mayo Clinic Arizona, 13400 E Scottsdale Blvd, Scottsdale, AZ 85259, USA
    Fam Cancer 11:667-9. 2012
    ..It may be useful for clinicians to be aware of this observation as clinical screening guidelines are proposed for such individuals...
  7. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
    ..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
  8. pmc Colorectal tumour microsatellite instability test results: perspectives from patients
    Noralane M Lindor
    Department of Medical Genetics, Mayo Foundation, Rochester, Minnesota
    Hered Cancer Clin Pract 2:69-75. 2004
    ..We were also interested in the patients' reasons for choosing to learn their results and in the impact of those results on overall self-assessed quality of life...
  9. pmc Parent of origin effects on age at colorectal cancer diagnosis
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA
    Int J Cancer 127:361-6. 2010
    ....
  10. pmc Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic, Rochester, Minn, USA
    JAMA 293:1979-85. 2005
    ..Cancer incidence in AC-I families with MMR gene mutations is reported to be very high, but cancer incidence for individuals in AC-I families with no evidence of an MMR defect is unknown...
  11. pmc Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: a study from the colon cancer family registry
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Mol Genet Metab 99:157-9. 2010
    ..No difference in frequency of A1AT deficiency alleles was found between cases and controls, irrespective of the MSI subtype...
  12. ncbi Recognition of genetic syndromes in families with suspected hereditary colon cancer syndromes
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA
    Clin Gastroenterol Hepatol 2:366-75. 2004
  13. pmc Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndrome
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
    Surg Oncol Clin N Am 18:637-45. 2009
    ..Familial colorectal cancer type X is the name used to refer to the "other half of HNPCC"...
  14. pmc Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of LAMBDA, BRCAPRO, Myriad II, and modified Couch models
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Fam Cancer 6:473-82. 2007
    ..Models have been developed to predict the probability that a person carries a detectable germline mutation in the BRCA1 or BRCA2 genes. Their relative performance in a clinical setting is unclear...
  15. ncbi Ascending the learning curve--MSI testing experience of a six-laboratory consortium
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
    Cancer Biomark 2:5-9. 2006
    ..The aim of this paper is to share lessons learned and to describe the final concordance rates in scoring MSI markers within this consortium...
  16. pmc Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study
    Noralane M Lindor
    The Department of Medical Genetics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Fam Cancer 9:495-502. 2010
    ..7%. PENN II model for BRCA1/2 prediction performed well in this population with higher AUC compared with our experience using four other models. The ease of use of the PENNII model is compatible with busy clinical practices...
  17. pmc Pancreatic cancer and a novel MSH2 germline alteration
    Noralane M Lindor
    Department of Medical Genetics and Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA
    Pancreas 40:1138-40. 2011
    ..The objective of this study was to describe a novel MSH2 missense alteration cosegregating with pancreatic cancer...
  18. ncbi Multiple primary tumors associated with chromosome 9p deletion
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Am J Med Genet A 143:95-7. 2007
  19. ncbi Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome
    N M Lindor
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
    Am J Med Genet 90:223-8. 2000
    ..These three disorders all manifest abnormal growth, premature aging, and predisposition to site-specific malignancies. The clinical and molecular aspects of RTS, Bloom syndrome, and Werner syndrome are compared and contrasted...
  20. ncbi Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Am J Med Genet A 135:75-80. 2005
    ..Significant medical problems occurring in these individuals included severe diverticular intestinal disease, mitral valve prolapse requiring valve replacement, and obstructive airway disease...
  21. pmc Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: case report and review
    Adrianne R Racek
    Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, 55905, MN, USA
    Hered Cancer Clin Pract 9:1. 2011
    ..The occurrence of appendiceal cancer in siblings may represent a random occurrence. An exceedingly rare predisposition syndrome cannot be ruled out...
  22. ncbi Papillary renal cell carcinoma: analysis of germline mutations in the MET proto-oncogene in a clinic-based population
    N M Lindor
    Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
    Genet Test 5:101-6. 2001
    ..MET proto-oncogene germline mutation screening does not appear to be clinically indicated in patients with PRCC without additional evidence for a genetic predisposition (positive family history, unusual age at onset, bilateral disease)...
  23. ncbi Confirmation of existence of a new syndrome: LAPS syndrome
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
    Am J Med Genet 109:93-9. 2002
    ....
  24. ncbi Higher risk of mismatch repair-deficient colorectal cancer in alpha(1)-antitrypsin deficiency carriers and cigarette smokers
    P Yang
    Department of Health Sciences Research, Department of Laboratory Medicine and Pathology, Department of Medical Genetics, Mayo Clinic and Foundation, 200 First Street SW, Rochester, Minnesota 55905, USA
    Mol Genet Metab 71:639-45. 2000
    ..Our findings suggest an etiologic link between alpha(1)ATD alleles and development of CRC with defective MMR, and a synergistic effect between smoking and alpha(1)ATD allele in the development of MSI-H CRC...
  25. ncbi A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair
    L A Boardman
    Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Genes Chromosomes Cancer 30:181-6. 2001
    ..All appeared to be polymorphisms present in similar proportions in an average-risk population. We conclude that germline APC mutations do not account for familial MSS (stable microsatellite) CRC associated with few synchronous polyps...
  26. ncbi Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer
    G Moslein
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
    Hum Mol Genet 5:1245-52. 1996
    ..On the other hand, we could not identify mutations in the subset of clinically defined HNPCC patients with MIN negative tumors nor in the majority (6/7) of MIN+ sporadic tumors...
  27. ncbi Alpha1-antitrypsin deficiency allele carriers among lung cancer patients
    P Yang
    Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Cancer Epidemiol Biomarkers Prev 8:461-5. 1999
    ..9% and 23.8%, P < or = 0.01, respectively). Our preliminary findings suggest that individuals who carry an alpha1AD allele may have an increased risk for developing LC, specifically squamous cell or bronchoalveolar carcinoma...
  28. ncbi The APC E1317Q variant in adenomatous polyps and colorectal cancers
    D Hahnloser
    Division of Colon and Rectal Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA
    Cancer Epidemiol Biomarkers Prev 12:1023-8. 2003
    ..These results underscore the importance of carefully defining the controls to be used in comparisons of allele frequencies...
  29. pmc Colorectal cancer risks in relatives of young-onset cases: is risk the same across all first-degree relatives?
    Lisa A Boardman
    Division of Gastroenterology, Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Clin Gastroenterol Hepatol 5:1195-8. 2007
    ..However, for young-onset microsatellite stable (MSS) CRC, the familial risk for CRC is unknown...
  30. ncbi Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age
    Sanjay Kakar
    Department of Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Cancer 97:1421-7. 2003
    ..The correlation between age at diagnosis and loss of expression of hMLH1 protein in patients with colorectal carcinoma (CRC) has not been evaluated systematically...
  31. ncbi p73 mutations are not detected in sporadic and hereditary breast cancer
    D I Schwartz
    Department of Laboratory Medicine and Pathology, Mayo Foundation, Rochester, MN 55905, USA
    Breast Cancer Res Treat 58:25-9. 1999
    ..Eleven common polymorphisms scattered throughout the gene were also detected. Thus, mutations in the p73 gene appear to play little if any role in hereditary or sporadic breast cancer...
  32. ncbi Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders
    S M Jalal
    Division of Laboratory Genetics, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Mayo Clin Proc 76:16-21. 2001
    ..Six representative cases involving derivative chromosomes, markers, and subtle anomalies were analyzed by M-FISH...
  33. ncbi Guidelines for buccal smear collection in breast-fed infants
    D Babovic-Vuksanovic
    Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA
    Am J Med Genet 84:357-60. 1999
    ..In addition, prior to sample collection, buccal mucosa should be cleaned thoroughly with a cotton swab applicator. The same guidelines are applicable to older nursing infants...
  34. ncbi Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome
    D Babovic-Vuksanovic
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Inherit Metab Dis 28:181-6. 2005
    ..Early recognition and appropriate therapeutic interventions may decrease the severity of infections, prevent potentially fatal infections, and eventually improve the quality of life in these patients...
  35. ncbi MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps
    Liang Wang
    Department of Laboratory Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Gastroenterology 127:9-16. 2004
    ....
  36. ncbi Nonmosaic smallest duplication of 12q24.31-qter: the first reported case
    Julie Won Ireland
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
    Am J Med Genet A 128:305-10. 2004
    ..This case is compared with 13 other reported cases with a duplication of the 12q terminal segment...
  37. pmc Identification and Management of Women With BRCA Mutations or Hereditary Predisposition for Breast and Ovarian Cancer
    Sandhya Pruthi
    Division of General Internal Medicine, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Mayo Clin Proc 85:1111-20. 2010
    ..A multidisciplinary approach offers the ability to educate those at very high risk about cancer prevention, reduce cancer risk, maximize early detection of breast and ovarian cancer, and improve survival...
  38. doi Lower gastrointestinal tract cancer predisposition syndromes
    Neel B Shah
    Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hematol Oncol Clin North Am 24:1229-52. 2010
    ..Since the l980s, the genetics of several clinically distinct entities has been revealed. Five disorders that share a hereditary predisposition to CRC are reviewed in this article...
  39. doi Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome
    Salman Kirmani
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
    Am J Med Genet A 152:1016-9. 2010
    ..Osteopenia or osteoporosis may become increasingly important issues as earlier detection and treatment of the vascular complications of LDS improves life expectancy in these patients...
  40. pmc Malignant melanoma in the 21st century: the emerging molecular landscape
    Aleksandar Sekulic
    Department of Dermatology, Mayo Clinic, Scottsdale, AZ 85259, USA
    Mayo Clin Proc 83:825-46. 2008
    ..We review the emerging molecular landscape of melanoma and its implications for better management of patients with melanoma...
  41. pmc Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients
    Regina E Ensenauer
    Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
    Am J Hum Genet 73:1027-40. 2003
    ..Although the present series of patients was ascertained because of some overlapping features with DG/VCF syndromes, the microduplication of 22q11.2 appears to be a new syndrome...
  42. ncbi Heterozygous Niemann-Pick disease type C presenting with tremor
    Keith A Josephs
    Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
    Neurology 63:2189-90. 2004
  43. ncbi Higher frequency of diploidy in young-onset microsatellite-stable colorectal cancer
    Lisa A Boardman
    Department of Gastroenterology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Clin Cancer Res 13:2323-8. 2007
    ..The clinicopathologic features of MSS CIN- CRC are not well delineated. We assessed the relationship between age and chromosomal instability (CIN) status as measured by ploidy and allelic imbalance in a series of MSS tumors...
  44. ncbi Desmoid tumors in familial adenomatous polyposis: a pilot project evaluating efficacy of treatment with pirfenidone
    N M Lindor
    Department of Medical Genetics, Mayo Clinic, Scottsdale, Arizona, USA
    Am J Gastroenterol 98:1868-74. 2003
    ....
  45. ncbi Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?
    Y S Chun
    Department of Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA
    Cancer 92:181-7. 2001
    ..Germline CDH1 mutations recently were identified in families with hereditary diffuse gastric carcinoma in a pattern suggestive of autosomal dominant inheritance with incomplete penetrance...
  46. ncbi Progressive extensive osteoma cutis associated with dysmorphic features: a new syndrome? Case report and review of the literature
    M D P Davis
    Department of Dermatology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Br J Dermatol 146:1075-80. 2002
    ..The differential diagnosis for this entity is presented. This phenotype may be a previously undescribed syndrome...
  47. ncbi Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review
    Noralane M Lindor
    Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minn, USA
    JAMA 296:1507-17. 2006
    ..Potential risk-reducing interventions are recommended for individuals known to have these mutations...
  48. pmc Determining the frequency of de novo germline mutations in DNA mismatch repair genes
    Aung Ko Win
    Department of Medical Genetics, Mayo Foundation, 200 First Street SW, Rochester, MN 55905, USA
    J Med Genet 48:530-4. 2011
    ..This study reports a case series of de novo mutations in MMR genes and estimates the frequency of de novo mutation in MMR genes using the Colon Cancer Family Registry...
  49. doi Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia
    Sara A Adams
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
    J Neurogenet 22:77-92. 2008
    ..This study is in agreement with other similar studies and supports recommendations that testing be considered only if there are additional supporting clinical features indicating that a possible FMR1 premutation may be involved...
  50. ncbi Bilateral hip dislocation and pubic diastasis in familial nail-patella syndrome
    David J Jacofsky
    Department of Orthopedics, Mayo Clinic and Mayo Foundation, Rochester, Minn 55905, USA
    Orthopedics 26:329-30. 2003
  51. doi Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis
    Maureen Murphy-Ryan
    Mayo Medical School, Rochester, Minnesota, USA
    Genet Med 12:344-54. 2010
    ..To create a practical desk reference for clinicians focused on the differential diagnosis of individuals presenting with features that suggest an inherited disorder of connective tissue...
  52. ncbi The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience
    Gustavo S Oderich
    Division of Vascular Surgery and Department of Medical Genetics, Mayo Clinic, USA
    J Vasc Surg 42:98-106. 2005
    ..The purpose of this study was to review the spectrum, management, and clinical outcome of EDS-IV patients...
  53. pmc Risks of Lynch syndrome cancers for MSH6 mutation carriers
    Laura Baglietto
    Cancer Epidemiology Centre, Victorian Cancer Registry, Carlton, Victoria, Australia
    J Natl Cancer Inst 102:193-201. 2010
    ..Germline mutations in MSH6 account for 10%-20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because there have been only a few studies of mutation carriers, their cancer risks are uncertain...
  54. pmc Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    Asad Umar
    Division of Cancer Prevention, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    J Natl Cancer Inst 96:261-8. 2004
    ....
  55. pmc Prediction of germline mutations and cancer risk in the Lynch syndrome
    Sining Chen
    Department of Environmental Health Sciences, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA
    JAMA 296:1479-87. 2006
    ..Current clinical guidelines are effective but limited by applicability and cost...
  56. ncbi Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation
    Sharlene Gill
    British Columbia Cancer Agency, Vancouver, British Columbia, Canada
    Clin Cancer Res 11:6466-71. 2005
    ..Rarely, there is selective loss of PMS2 expression. We sought to describe the frequency and clinical correlates of selective loss of expression of PMS2 with the MSI-H tumor phenotype...
  57. pmc The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    Leigha Senter
    Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
    Gastroenterology 135:419-28. 2008
    ..Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers...
  58. pmc Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study
    Mark A Jenkins
    Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Parkville, Victoria, Australia
    Gastroenterology 133:48-56. 2007
    ..Our aim was to identify pathology and other features that independently predict high MSI (MSI-H)...
  59. pmc Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer
    Graham Casey
    Department of Cancer Biology, Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio 44195, USA
    JAMA 293:799-809. 2005
    ..Current data suggest that mismatch repair mutations are highly heterogeneous and that many mutations are not detected when conventional DNA sequencing alone is used...
  60. ncbi Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
    Carol A Wise
    Sarah M and Charles E Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA
    Hum Mol Genet 11:961-9. 2002
    ..This CD2BP1-mediated biochemical pathway(s) may function in common inflammatory disorders with apparent etiological overlap, such as rheumatoid arthritis and inflammatory bowel disease...
  61. doi Germline duplication of chromosomes 10p15.3 and Yp11.32 in a man with learning disability and early onset cutaneous malignant melanoma
    Ercan Mihci
    Akdeniz University School of Medicine, Division of Clinical Genetics, Department of Pediatrics, Antalya, Turkey
    Am J Med Genet A 146:2298-300. 2008
  62. ncbi Desmoid tumors -- a characterization of patients seen at Mayo Clinic 1976-1999
    Taya Fallen
    Cancer Genetics Program, Department of Medicine, Division of Hematology Oncology, Northwestern Medical Faculty Foundation, Chicago, IL, USA
    Fam Cancer 5:191-4. 2006
    ..Using Bayesian analysis, we demonstrate how these findings can assist genetic professionals in their evaluation of patients with desmoid tumors by providing prior probabilities of FAP based upon clinical presentation...

Research Grants2

  1. FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUP
    Noralane Lindor; Fiscal Year: 2007
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