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Table 4. Studies of Cancer Penetrance Among BRCA1 and BRCA2 Mutation Carriers: Cumulative Incidence of Ovarian Cancer

BCLC = Breast Cancer Linkage Consortium; LOD = logarithm of the odd.
a Incidence to age 80 y.
b Incidence to age 75 y.
Cumulative Incidence of Ovarian Cancer to Given Age
Population50 y70 y50 y70 y50 y70 y
Incidence of second cancers after breast cancer
-33 BRCA1-linked families (BCLC) [105]29%44%
-BRCA1-linked families (BCLC) [106]29%44%
Linkage analysis - maximization of LOD score
-BRCA1-linked families (BCLC) [106]23%63%
-237 breast and breast-ovarian cancer families (BCLC) [107]0%27%
Kin cohort
-Community-based Washington, DC area Jews, 61 BRCA1, 59 BRCA2[55]8%16%5%18%7%16%
-Unselected cases ovarian cancer, 39 BRCA1, 21 BRCA2[52]36%a10%a
Second or contralateral cancer incidence; focus was on nonbreast and nonovary outcomes
-173 breast-ovarian cancer families either BRCA2-positive or BRCA2-linked (BCLC) [12]3%16%
Modified segregation analysis (MENDEL)
-Breast cancer cases, aged <55 y, 8 BRCA1, 16 BRCA2[46]11%36%3%10%4%16%
-Families with 2+ cases ovarian cancer, 40 BRCA1, 11 BRCA2[108]17%53%1%31%
-Unselected cases ovarian cancer, 12 BRCA1[108]21%68%
-164 BRCA2-positive families from BCLC [114]14%
-Unselected cases ovarian or breast cancer from 22 studies, 289 BRCA1, 221 BRCA2[103]13%39%1%11%
Relative risk times population rates
-Jewish women with ovarian cancer, 44 BRCA1, 24 BRCA2[61]>40%b20%b
-Unselected cases ovarian or breast cancer from 22 studies, 289 BRCA1, 221 BRCA2 [115]11%37%3%21%
Direct Kaplan-Meier estimates restricted to relatives known to be mutation positive
-Unselected Jewish breast cancer patients from NY, 67 BRCA1, 37 BRCA2[56]21%46%2%12%
Mendelian retrospective likelihood approach
-U.S.-based through the Cancer Genetics Network, most counseling clinic-based, although smaller number population-based, 238 BRCA1, 143 BRCA2[138]40%22%

Cancers other than female breast/ovarian

Female breast and ovarian are clearly the dominant cancers associated with BRCA1 and BRCA2. Male breast, prostate, and pancreatic cancers have also been consistently associated, particularly with BRCA2. Other cancers have been associated in some studies. The strength of the association of these cancers has been more difficult to estimate due to the lower numbers of these cancers observed in mutation carriers.

Men with BRCA2 mutations, and to a lesser extent BRCA1 mutations, are at increased risk of breast cancer with lifetime risks estimated at 5% to 10% and 1% to 2%, respectively.[6,8,9,139] Men carrying BRCA2 mutations, and to a lesser extent BRCA1 mutations, have an approximately 3- to 7-fold increased risk of prostate cancer.[7,8,12,86,140,141,142]BRCA2-associated prostate cancer also appears to be more aggressive.[143,144,145,146,147,148] (Refer to the BRCA1 and BRCA2 section in the PDQ summary on Genetics of Prostate Cancer summary for more information.)


WebMD Public Information from the National Cancer Institute

Last Updated: May 16, 2012
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