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Table 4. Spectrum of Cancers in BRCA1 and BRCA2 Mutation Carriers

Cancer Sites [6-8,12,61,142] BRCA1 Mutation Carrier BRCA2 Mutation Carrier 
Strength of Evidence Magnitude of Absolute Risk Strength of Evidence Magnitude of Absolute Risk
Breast (female)+++High+++High
Ovary, fallopian tube, peritoneum+++High+++Moderate
Breast (male)+Undefined+++Low
Pancreas++Very Low+++Low

aRefer to the PDQ summary on Genetics of Prostate Cancer for more information about the association of BRCA1 and BRCA2 with prostate cancer.
+++ Multiple studies demonstrated association and are relatively consistent.
++ Multiple studies and the predominance of the evidence are positive.
+ May be an association, predominantly single studies; smaller limited studies and/or inconsistent but weighted toward positive.


  1. Brose MS, Rebbeck TR, Calzone KA, et al.: Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 94 (18): 1365-72, 2002.  [PUBMED Abstract]

  2. Risch HA, McLaughlin JR, Cole DE, et al.: Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 98 (23): 1694-706, 2006.  [PUBMED Abstract]

  3. Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 91 (15): 1310-6, 1999.  [PUBMED Abstract]

  4. Struewing JP, Hartge P, Wacholder S, et al.: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336 (20): 1401-8, 1997.  [PUBMED Abstract]

  5. van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, et al.: Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet 42 (9): 711-9, 2005.  [PUBMED Abstract]