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Risk Risk Assessment

Published Estimates of Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

* To date, no BRCA mutation carrier specific
screening guidelines have been published for these cancers.

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Population Risk1

Risk in BRCA1 and BRCA2 Mutation Carriers
Breast
~8% by age 70

Risk of primary breast cancer:
BRCA1 and BRCA2: 56%-87% by age 702,3
82% by age 8016
33%-50% by age 503,4

Risk of contralateral breast cancer:
BRCA1: 48% risk by age 50, 64% by age 702
BRCA2: 37% by age 50, 50% by age 7013
BRCA1: 20% within 5 years of first diagnosis11
BRCA2: 12% within 5 years of first diagnosis15
Ovary
~1% by age 70
 BRCA1: 28%-44% by age 70-802,6
BRCA1: 54% by age 8016
BRCA2: 27% by age 705
BRCA2: 23% by age 8016
10-fold increased risk following breast cancer12
16% following breast cancer (BRCA2)13
Colon*
2% by age 70
 BRCA1: ~2-fold increase in relative risk17
BRCA2: no apparent increase in risk13,14
Prostate*
~8% by age 70
 BRCA1: 7.67% (North America) by age 70
BRCA2: 3- to 7-fold increase in relative risk
8% by age 70, 20% by age 802,7,13
Male breast cancer*
<0.05% by age 70
 BRCA2: 6% by age 707,8
Pancreatic cancer*
~0.5% by age 70
 BRCA1: 2- to 3-fold increase in relative risk;
1.16% (males), 1.26% (females) by age 7017
BRCA2: 3- to 4-fold increase in relative risk;
1-2% by age 709,10,13
Uterus*
1.5% by age 70
 BRCA1: 2- to 3-fold increase in relative risk;
2.47% by age 7017
Cervix*
0.6% by age 70
 BRCA1: 3- to 4-fold increase in relative risk;
2.16% by age 50, 3.57% by age 7017

 

  1. Surveillance, Epidemiology, and End Results (SEER) Program (www.seer.cancer.gov) DevCan database: SEER 12 Incidence and Mortality, 1993-2000, Follow-back year=1992 National Cancer Institute, DCCPS, Surveillance Research Program, Cancer Statistics Branch, released April 2003, based on November 2002 submission. Underlying mortality data provided by NCHS (www.cdc.gov/nchs).
  2. Ford D, Easton DF, Bishop DT, et al. Risks of cancer in BRCA1-mutation carriers. Lancet. 1994;343: 692-695. (87% risk of breast cancer by age 70) (44% risk of ovarian cancer) (48% risk of contralateral breast cancer by age 50, 64% by age 70)
  3. Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. NEJM. 1997;336: 1401-1408. (33% risk of breast cancer by age 50, 56% risk by age 70)
  4. Easton DF, Ford D, Bishop DT, et al. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Human Genet. 1995;56:265-271. (50% risk of breast cancer by age 50)
  5. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet.1998;62: 676-689.
  6. Whittemore AS , Gong G, Itnyre J. Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet. 1997;60: 496-504. (28% risk of ovarian cancer)
  7. Easton DF, Steele L, Fields P, et al. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet. 1997;61: 120-128.
  8. Couch FJ, Farid LM, DeShano ML, et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genetics. 1996;13: 123-125.
  9. Goggins M, Schutte M, Lu J, et al. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res. 1996;56: 5360-5364.
  10. Phelan CM, Lancaster JM, Tonin P, et al. Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nature Genetics. 1996;13: 120-122.
  11. Verhoog LC, Brekelmans CTM, Seynaeve C, et al. Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet. 1998;351: 316-321. (20% risk of contralateral breast cancer)
  12. Frank TS, Manley SA, Olopade OI, et al. Sequence analysis of BRCA1 and BRCA2: Correlation of mutations with family history and ovarian cancer risk. J Clin Oncol. 1998 16:2417-2425. (10-fold increased risk of ovarian cancer following breast cancer)
  13. The Breast Cancer Linkage Consortium: Cancer Risks in BRCA2 Mutation Carriers. JNCI. 1999;15:1310-1316.
  14. Lin KM, Terment CA, Adams DR et al. Colorectal cancer in hereditary breast cancer kindreds. Dis Colon Rectum. 1999;42:1041-1045.
  15. Verhoog LC, Brekelmans CTM, Seynaeve C, et al. Survival in hereditary breast cancer associated with germline mutations of BRCA2. J Clin Oncol. 1999;17:3396-3402.
  16. King, MC, Marks JH, et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302(5645):643-646.
  17. Thompson, D and Easton , DF. Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2003;94(18):1358-1365.

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