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The Risk of Cancer Associated with Specific Mutations of BRCA1 and BRCA2 among Ashkenazi Jews
Open accessAbstract
BACKGROUND: Carriers of germ-line mutations in BRCA1 and BRCA2 from families at high risk for cancer have been estimated to have an 85 percent risk of breast cancer. Since the combined frequency of BRCA1 and BRCA2 mutations exceeds 2 percent among Ashkenazi Jews, we were able to estimate the risk of cancer in a large group of Jewish men and women from the Washington, D.C., area. METHODS: We collected blood samples from 5318 Jewish subjects who had filled out epidemiologic questionnaires. Carriers of the 185delAG and 5382insC mutations in BRCA1 and the 6174delT mutation in BRCA2 were identified with assays based on the polymerase chain reaction. We estimated the risks of breast and other cancers by comparing the cancer histories of relatives of carriers of the mutations and noncarriers. RESULTS: One hundred twenty carriers of a BRCA1 or BRCA2 mutation were identified. By the age of 70, the estimated risk of breast cancer among carriers was 56 percent (95 percent confidence interval, 40 to 73 percent); of ovarian cancer, 16 percent (95 percent confidence interval, 6 to 28 percent); and of prostate cancer, 16 percent (95 percent confidence interval, 4 to 30 percent). There were no significant differences in the risk of breast cancer between carriers of BRCA1 mutations and carriers of BRCA2 mutations, and the incidence of colon cancer among the relatives of carriers was not elevated. CONCLUSIONS: Over 2 percent of Ashkenazi Jews carry mutations in BRCA1 or BRCA2 that confer increased risks of breast, ovarian, and prostate cancer. The risks of breast cancer may be overestimated, but they fall well below previous estimates based on subjects from high-risk families.
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Cites
Risks of cancer in BRCA1-mutation carriers
FORD, D. (1994) · The Lancet · doi:10.1016/s0140-6736(94)91578-4 · Cited by 1,850
Cited by
Antoniou, A., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Loman, N., Olsson, H., Johannsson, O., Borg, Å., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/375033 · Cited by 3,680
Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2
King, M.-C., Marks, J. H., & Mandell, J. B. (2003) · Science · doi:10.1126/science.1088759 · Cited by 2,229
Meta-Analysis of BRCA1 and BRCA2 Penetrance
Chen, S., & Parmigiani, G. (2007) · Journal of Clinical Oncology · doi:10.1200/jco.2006.09.1066 · Cited by 1,802
Domchek, S. M. (2010) · JAMA · doi:10.1001/jama.2010.1237 · Cited by 1,494
A breast cancer prediction model incorporating familial and personal risk factors
Tyrer, J., Duffy, S. W., & Cuzick, J. (2004) · Statistics in Medicine · doi:10.1002/sim.1668 · Cited by 1,345
Rebbeck, T. R., Friebel, T., Lynch, H. T., Neuhausen, S. L., van ’t Veer, L., Garber, J. E., Evans, G. R., Narod, S. A., Isaacs, C., Matloff, E., et al. (2004) · Journal of Clinical Oncology · doi:10.1200/jco.2004.04.188 · Cited by 1,171
BRCA1 and BRCA2: 1994 and beyond
Narod, S. A., & Foulkes, W. D. (2004) · Nature Reviews Cancer · doi:10.1038/nrc1431 · Cited by 967
Breast Cancer after Prophylactic Bilateral Mastectomy in Women with a BRCA1 or BRCA2 Mutation
Meijers-Heijboer, H., van Geel, B., van Putten, W. L. J., Henzen-Logmans, S. C., Seynaeve, C., Menke-Pluymers, M. B. E., Bartels, C. C. M., Verhoog, L. C., van den Ouweland, A. M. W., Niermeijer, M. F., et al. (2001) · New England Journal of Medicine · doi:10.1056/nejm200107193450301 · Cited by 973
Correction of a pathogenic gene mutation in human embryos
Ma, H., Marti-Gutierrez, N., Park, S.-W., Wu, J., Lee, Y., Suzuki, K., Koski, A., Ji, D., Hayama, T., Ahmed, R., et al. (2017) · Nature · doi:10.1038/nature23305 · Cited by 992
Rebbeck, T. R., Kauff, N. D., & Domchek, S. M. (2009) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djn442 · Cited by 939
Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE
Mavaddat, N., Peock, S., Frost, D., Ellis, S., Platte, R., Fineberg, E., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., et al. (2013) · JNCI: Journal of the National Cancer Institute · doi:10.1093/jnci/djt095 · Cited by 951
Genetic Misdiagnoses and the Potential for Health Disparities
Manrai, A. K., Funke, B. H., Rehm, H. L., Olesen, M. S., Maron, B. A., Szolovits, P., Margulies, D. M., Loscalzo, J., & Kohane, I. S. (2016) · New England Journal of Medicine · doi:10.1056/nejmsa1507092 · Cited by 808
Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers
Hartmann, L. C., Sellers, T. A., Schaid, D. J., Frank, T. S., Soderberg, C. L., Sitta, D. L., Frost, M. H., Grant, C. S., Donohue, J. H., Woods, J. E., et al. (2001) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/93.21.1633 · Cited by 743
New Insights Into the Pathogenesis of Serous Ovarian Cancer and Its Clinical Impact
Levanon, K., Crum, C., & Drapkin, R. (2008) · Journal of Clinical Oncology · doi:10.1200/jco.2008.18.1107 · Cited by 412
Pierce, L. J., Levin, A. M., Rebbeck, T. R., Ben-David, M. A., Friedman, E., Solin, L. J., Harris, E. E., Gaffney, D. K., Haffty, B. G., Dawson, L. A., et al. (2006) · Journal of Clinical Oncology · doi:10.1200/jco.2005.02.7888 · Cited by 340
Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat.
Rebbeck, T. R., Kantoff, P. W., Krithivas, K., Neuhausen, S., Blackwood, M. A., Godwin, A. K., Daly, M. B., Narod, S. A., Garber, J. E., Lynch, H. T., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302366 · Cited by 252
Carmi, S., Hui, K. Y., Kochav, E., Liu, X., Xue, J., Grady, F., Guha, S., Upadhyay, K., Ben-Avraham, D., Mukherjee, S., et al. (2014) · Nature Communications · doi:10.1038/ncomms5835 · Cited by 188
Malone, K. E., Begg, C. B., Haile, R. W., Borg, A., Concannon, P., Tellhed, L., Xue, S., Teraoka, S., Bernstein, L., Capanu, M., et al. (2010) · Journal of Clinical Oncology · doi:10.1200/jco.2009.24.2495 · Cited by 191
Heemskerk-Gerritsen, B. A. M., Brekelmans, C. T. M., Menke-Pluymers, M. B. E., van Geel, A. N., Tilanus-Linthorst, M. M. A., Bartels, C. C. M., Tan, M., Meijers-Heijboer, H. E. J., Klijn, J. G. M., & Seynaeve, C. (2007) · Annals of Surgical Oncology · doi:10.1245/s10434-007-9449-x · Cited by 153
“001 Death due to cancer 0 (0) 1 (3) 9 (10) 7 (8) Age at PM (years) Median 36.”
InfluentialManchanda, R., Loggenberg, K., Sanderson, S., Burnell, M., Wardle, J., Gessler, S., Side, L., Balogun, N., Desai, R., Kumar, A., et al. (2015) · JNCI: Journal of the National Cancer Institute · doi:10.1093/jnci/dju379 · Cited by 135
Inherited pancreatic cancer syndromes
Solomon, S., Das, S., Brand, R., & Whitcomb, D. C. (2012) · The Cancer Journal · doi:10.1097/ppo.0b013e318278c4a6 · Cited by 120
Ringwald, J., Wochnowski, C., Bosse, K., Giel, K. E., Schäffeler, N., Zipfel, S., & Teufel, M. (2016) · Journal of Genetic Counseling · doi:10.1007/s10897-016-9949-6 · Cited by 114
De Nicolo, A., Tancredi, M., Lombardi, G., Flemma, C. C., Barbuti, S., Di Cristofano, C., Sobhian, B., Bevilacqua, G., Drapkin, R., & Caligo, M. A. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-0087 · Cited by 91
Patenaude, A. F., Orozco, S., Li, X., Kaelin, C. M., Gadd, M., Matory, Y., Mayzel, K., Roche, C. A., Smith, B. L., Farkas, W., et al. (2008) · Psycho-Oncology · doi:10.1002/pon.1279 · Cited by 38
“These women have corresponding breast cancer risks between 56 and 85% [3,4].”
Liu, T., Yu, J., Gao, Y., Ma, X., Jiang, S., Gu, Y., & Ming, W.-K. (2023) · Cancers · doi:10.3390/cancers16010103 · Cited by 21
Metadata
- Authors
- Struewing, J. P., Hartge, P., Wacholder, S., Baker, S. M., Berlin, M., McAdams, M., Timmerman, M. M., Brody, L. C., & Tucker, M. A.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1997-05-15
- Volume
- 336
- Issue
- 20
- Pages
- 1401-1408
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2328105863
- Cited by
- 2,281
- References
- 1
- FWCI
- 78.12
- Type
- journal article
- Language
- en
- Open access
- bronze
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