All Genetic Epidemiology Branch investigations evaluate the contributions of host susceptibility and environmental exposure in the development of cancer. In family studies, a candidate gene for melanoma on 9p, p16, was identified. Germline mutations were identified in most families linked to 9p. Functional studies of p16 mutations were also conducted. Among families with mutations in p16 which interfered with normal function, a 10-fold increased risk of pancreatic cancer was found. No pancreatic cancer occurred in families without p16 mutations. Novel mutations in BRCA1 were described in 8 families, including a family with male breast cancer which was previously thought to be associated with mutations in BRCA2. Preliminary analyses of phenotype/genotype correlations in Neurofibromatosis 2 families have shown no association with type or locations of mutations and clinical severity of disease. Three families with Ewing's sarcoma, melanoma and brain cancers have been tested for p16 mutations and found to have normal p16.

Agency
National Institute of Health (NIH)
Institute
National Cancer Institute (NCI)
Type
Intramural Research (Z01)
Project #
1Z01CP005803-01
Application #
5201603
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
1995
Total Cost
Indirect Cost
Name
Division of Cancer Epidemiology and Genetics
Department
Type
DUNS #
City
State
Country
United States
Zip Code
Goldin, Lynn R; Bjorkholm, Magnus; Kristinsson, Sigurdur Y et al. (2009) Elevated risk of chronic lymphocytic leukemia and other indolent non-Hodgkin's lymphomas among relatives of patients with chronic lymphocytic leukemia. Haematologica 94:647-53
Goldin, Lynn; Bjorkholm, Magnus; Kristinsson, Sigurdur et al. (2009) Germline and somatic JAK2 mutations and susceptibility to chronic myeloproliferative neoplasms. Genome Med 1:55
Landgren, Ola; Pfeiffer, Ruth M; Stewart, Laveta et al. (2007) Risk of second malignant neoplasms among lymphoma patients with a family history of cancer. Int J Cancer 120:1099-102
Yang, Xiaohong R; Sherman, Mark E; Rimm, David L et al. (2007) Differences in risk factors for breast cancer molecular subtypes in a population-based study. Cancer Epidemiol Biomarkers Prev 16:439-43
R Yang, X; Pfeiffer, R M; Goldstein, A M (2006) Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome. J Med Genet 43:e16
Landgren, Ola; Linet, Martha S; McMaster, Mary L et al. (2006) Familial characteristics of autoimmune and hematologic disorders in 8,406 multiple myeloma patients: a population-based case-control study. Int J Cancer 118:3095-8
Landgren, Ola; Engels, Eric A; Caporaso, Neil E et al. (2006) Patterns of autoimmunity and subsequent chronic lymphocytic leukemia in Nordic countries. Blood 108:292-6
Yang, Xiaohong Rose; Charette, Lori A; Garcia-Closas, Montserrat et al. (2006) Construction and validation of tissue microarrays of ductal carcinoma in situ and terminal duct lobular units associated with invasive breast carcinoma. Diagn Mol Pathol 15:157-61
Goldstein, Alisa M; Dondon, Marie-Gabrielle; Andrieu, Nadine (2006) Unconditional analyses can increase efficiency in assessing gene-environment interaction of the case-combined-control design. Int J Epidemiol 35:1067-73
Landi, Maria Teresa; Kanetsky, Peter A; Tsang, Shirley et al. (2005) MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. J Natl Cancer Inst 97:998-1007

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