Dr. Bernstein is the PI of the WECARE Study (for Women's Environmental, Cancer, and Radiation Epidemiology) which examines genetic susceptibility and radiation exposure in breast cancer. Current studies are examining mutations in ATM, BRCA1/2, Chek2, 53BPI, MDC1, Rad50, and MRN genes. This year, Dr. Bernstein was awarded a grant from the NIH to conduct a multi-stage genome-wide association study (GWAS) which involves genome-wide screening of the already existing WECARE Study cases and controls in order to discover single-nucleotide polymorphism (SNPs) associated with second primary breast cancer and with radiation. In addition, Dr. Bernstein has a subcontract to Dr. Patrick Concannon of the University of Virginia on his study examining the functional significance of the ATM variants detected during screening of the WECARE Study population. In addition, Dr. Bernstein and Dr. Sara Olson are collaborating on an NIH-funded multi-center study, the GLIOGENE (Genetic Epidemiology of Glioma) Study, to characterize genes in familial glioma cases. Using a genome-wide SNPapproach and linkage analysis, they will identify new genomic regions or loci that could harbor genes important for gliomagenesis and progression. The MSKCC team joins a large group in North America, Europe, and Israel on this endeavor with Melissa Bondy of MD Anderson as Principal Investigator (Malmer 2007).
Selected Bibliography
Bernstein JL, Thompson WD, Risch N, Holford TR. Risk factors predicting the incidence of second primary breast cancer among women diagnosed with a first primary breast cancer. American Journal of Epidemiology 1992; 136:925-936.
Bernstein JL, Langholz BM, Haile RW, Bernstein L, Thomas DC, Stovall M, Malone KE, Lynch CF, Olsen JH, Anton-Culver H, Shore RE, Boice Jr. JD, Berkowitz GS, Gatti RA, Teitelbaum SL, Smith SA, Rosenstein BS, Borresen-Dale, AL, Concannon P, Thompson WD. Research Design: Evaluating gene-environment interactions in the etiology of breast cancer - the WECARE Study. Breast Cancer Research 2004; 6:R199-R214.
Stovall M, Smith SA, Langholz BM, Boice JD, Shore RE, Andersson M, Buchholz TA, Capanu M, Bernstein L, Lynch CF, Malone KE, Anton-Culver H, Haile RW, Reiner A, Thomas DC, Bernstein JL. Dose to the contralateral breast from radiation therapy and risk of second primary breast cancer in the WECARE Study. International Journal of Radiation, Oncology, Biology and Physics. 2008; 72:1021-1030.
Begg CB, Haile RW, BorgA, Malone KE, Concannon P, Thomas DC,Langholz B, Bernstein L, Olsen JH, Lynch CF, Anton-Culver H, Capanu H, Liang X, Hummer AJ, Sima C, Bernstein JL. Variation of breast cancer risk among BRCA1/2 carriers. JAMA 2008; 299(2):194-201.
Bernstein JL, Haile RW, Stovall M, Boice J, Shore R, Langholz B, Thomas D, Bernstein L, Lynch C, Olsen J, Malone K, Mellemkjaer L, Borrensen-Dale A, Rosenstein B, Teraoka S, Diep A, Smith S, Capanu M, Reiner A, Liang X, Gatti RA, The WECARE Study Collaborative Group, Concannon P. Radiation exposure, the ATM gene, and contralateral breast cancer in the WECARE Study. Journal of the National Cancer Institute. August 2009. [in press]