Research Topics
Genomes and Genes | M A TuckerSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanomaL Zuo
Sequana Therapeutics Inc, La Jolla, California 92037, USA
Nat Genet 12:97-9. 1996
Clinically recognized dysplastic nevi. A central risk factor for cutaneous melanomaM A Tucker
Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892 7372, USA
JAMA 277:1439-44. 1997..To investigate the relationship of number and type of nevi to the development of melanoma...
Second primary cancers related to smoking and treatment of small-cell lung cancer. Lung Cancer Working CadreM A Tucker
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA
J Natl Cancer Inst 89:1782-8. 1997..We designed a multi-institution study to investigate the risk among survivors of developing second primary cancers other than small-cell lung carcinoma...
The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi JewsP Hartge
Division of Cancer Epidemiology and Statistics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7374, USA
Am J Hum Genet 64:963-70. 1999..Even with accurate estimates of the likelihood of carrying a mutation and the likelihood of developing cancer if a mutation is detected, the most vexing clinical problems remain...
Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutationsA M Goldstein
Genetic Epidemiology Branch, National Cancer Institute, Bethesda, MD 20892 7236, USA
J Natl Cancer Inst 92:1006-10. 2000..CDKN2A is a tumor suppressor gene that encodes p16 (which inhibits activity of the cyclin D1-CDK4 complex) with germline mutations detected in 10%-25% of melanoma-prone families, some of whom are also prone to pancreatic cancer...
Rarity of CDK4 germline mutations in familial melanomaA M Goldstein
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
Melanoma Res 12:51-5. 2002..In summary, although CDK4 is a melanoma susceptibility gene, it plays a minor role in hereditary melanoma...
Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone familiesA M Goldstein
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892 7236, USA
Cancer Epidemiol Biomarkers Prev 9:889-94. 2000..8) versus those with CDKN2A mutations (OR, 3.3; 95% confidence interval, 1.1-10.0; complete-cases method). The CDKN2A-DN interaction illustrates the complex etiology of melanoma and needs to be confirmed in a larger sample of families...
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone familiesA M Goldstein
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA
Br J Cancer 85:527-30. 2001..All seven families had a haplotype consistent with a common ancestor/founder for this mutation. In addition, the mutation appears to have originated 34-52 generations ago (1-LOD-unit support interval 13-98 generations)...
CDKN2A mutations and melanoma risk in the Icelandic populationA M Goldstein
Genetic Epidemiology Branch, Division of Cancer Epidemiologyand Genetics NCI NIH DHHS, Executive Plaza South, Room 7004, 6120 Executive Blvd MSC 7236, Bethesda, MD 20892 7236, USA
J Med Genet 45:284-9. 2008..Germline CDKN2A mutations have been observed in 20-40% of high risk, melanoma prone families; however, little is known about their prevalence in population based series of melanoma cases and controls...
Two-locus linkage analysis of cutaneous malignant melanoma/dysplastic neviA M Goldstein
Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland 20892 7372, USA
Am J Hum Genet 58:1050-6. 1996..Thus, the application of 2L models may be useful to help unravel the complexities of familial melanoma...
Prospective risk of cancer in CDKN2A germline mutation carriersA M Goldstein
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892 7236, USA
J Med Genet 41:421-4. 2004..For non-population-based studies, risks could also be biased because of cancer occurrence prior to family ascertainment...
A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriersW W Wang
Laboratory of Population Genetics, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA
Cancer Epidemiol Biomarkers Prev 10:955-60. 2001..The biochemical basis of this risk modifier is currently unknown...
Combined risk factors for melanoma in a Mediterranean populationM T Landi
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Bethesda, MD 20892 7236, USA
Br J Cancer 85:1304-10. 2001....
Apparent anticipation in familial melanomaA M Goldstein
Harvard Medical School, Department of Pathology, Beth Israel Hospital, Boston, MA 02215, USA
Melanoma Res 6:441-6. 1996..Although increased surveillance may partly explain the results, additional studies should evaluate melanoma risk factors, genetic and/or environmental, across generations to examine the reasons for the apparent anticipation...
Germline p16 mutations in familial melanomaC J Hussussian
Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892
Nat Genet 8:15-21. 1994..Functional analyses of these mutations will confirm those causally related to the development of familial melanoma...
Recent trends in cutaneous melanoma incidence among whites in the United StatesA Jemal
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA
J Natl Cancer Inst 93:678-83. 2001....
The APCI1307K allele and cancer risk in a community-based study of Ashkenazi JewsT Woodage
Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Genet 20:62-5. 1998..Risk of developing colorectal, breast and other cancers were compared between genotyped I1307K carriers and non-carriers and their first-degree relatives...
Gene environment interactions in a cohort of irradiated retinoblastoma patientsR A Kleinerman
Division of Cancer, Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland 20852, USA
Radiat Res 163:701-2. 2005
Inguinal hernia in patients with Ewing sarcoma: a clue to etiologyJ U Cope
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892 7362, USA
Med Pediatr Oncol 34:195-9. 2000..Most of these hernias were inguinal. Because these anomalies were also reported previously in two case series, we looked for inguinal hernias in a different population of ES patients...
Familial eosinophilia: clinical and laboratory results on a U.S. kindredA Y Lin
Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland 20892, USA
Am J Med Genet 76:229-37. 1998..2q21.2). A gene mapping study is currently underway to study the underlying genetic mechanism(s) of this syndrome...
Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutationB Modan
Department of Clinical Epidemiology, Chaim Sheba Medical Center, Tel Hashomer, Israel
N Engl J Med 345:235-40. 2001..Multiparity and the use of oral contraceptives reduce the risk of ovarian cancer, but their effects on this risk in women with a BRCA1 or BRCA2 mutation are unclear...
Mutations associated with familial melanoma impair p16INK4 functionK Ranade
Nat Genet 10:114-6. 1995..Our data provide a biochemical rationale for the hypothesis that carriers of certain p16INK4 mutations are at increased risk of developing melanoma...
Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanomaK Laud
Service de Genetique, Institut Gustave Roussy, 94800 Villejuif, France
J Med Genet 43:39-47. 2006..Comprehensive analysis of the 9p21 locus including the CDKN2A, ARF, and CDKN2B genes in 53 individuals from melanoma index cases considered to be at heightened risk of melanoma...
CDKN2A mutations in multiple primary melanomasJ Monzon
Institute of Medical Sciences, University of Toronto, ON, Canada
N Engl J Med 338:879-87. 1998..We hypothesized that this predisposition might be due to germ-line CDKN2A mutations...
Mutation testing in melanoma families: INK4A, CDK4 and INK4DJ A Newton Bishop
ICRF Cancer Medicine Research Unit, St James s University Hospital, Leeds, UK
Br J Cancer 80:295-300. 1999..The p19 gene was sequenced in DNA from the 42 UK families and six additional US families. No mutations were identified...
A genome screen of families at high risk for Hodgkin lymphoma: evidence for a susceptibility gene on chromosome 4L R Goldin
J Med Genet 42:595-601. 2005
Parenchymal-stromal interactions in neoplasia. Theoretical considerations and observations in melanocytic neoplasiaW H Clark
Department of Pathology, Harvard Medical School, The Beth Israel Hospital, Pathology Services, Inc, Cambridge, MA 02215, USA
Acta Oncol 34:749-57. 1995..The changes in neoplastic stroma proceed in concert with the changes in the parenchyma characteristic of melanocytic tumor progression...
