|
|
Table 3. Studies of Cancer Penetrance
Among BRCA1 and BRCA2
Mutation Carriers: Cumulative Incidence of Ovarian Cancer
|
Cumulative Incidence of Ovarian Cancer to Given Age
|
|
BRCA1
|
BRCA2
|
BRCA1/2
|
Population
|
50 yr
|
70 yr
|
50 yr
|
70 yr
|
50 yr
|
70 yr
|
Incidence of second cancers after breast cancer
|
—33 BRCA1-linked families (BCLC) [55] |
29% |
44% |
|
|
|
|
—BRCA1-linked families (BCLC) [56] |
29% |
44% |
|
|
|
|
Linkage analysis - maximization of LOD score
|
—BRCA1-linked families (BCLC) [56] |
23% |
63% |
|
|
|
|
—237 breast and breast-ovarian cancer families (BCLC) [58] |
|
|
0% |
27% |
|
|
Kin cohort
|
—Community-based Washington, D.C. area Jews, 61 BRCA1, 59 BRCA2 [46] |
8% |
16% |
5% |
18% |
7% |
16% |
—Unselected cases ovarian cancer, 39 BRCA1, 21 BRCA2 [42] |
|
36%a |
|
10%a |
|
|
Second or contralateral cancer incidence; focus was on nonbreast and ovary 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 years, 8 BRCA1, 16 BRCA2 [62] |
11% |
36% |
3% |
10% |
4% |
16% |
—Families with 2+ cases ovarian cancer, 40 BRCA1, 11 BRCA2 [63] |
17% |
53% |
1% |
31% |
|
|
—Unselected cases ovarian cancer, 12 BRCA1 [63] |
21% |
68% |
|
|
|
|
—164 BRCA2-positive families from BCLC [66] |
|
|
|
14% |
|
|
—Unselected cases ovarian or breast cancer from 22 studies, 289 BRCA1, 221 BRCA2 [68] |
13% |
39% |
1% |
11% |
|
|
Relative risk times population rates
|
—Jewish women with ovarian cancer, 44 BRCA1, 24 BRCA2 [64] |
|
>40%b |
|
20%b |
|
|
—Unselected cases ovarian or breast cancer from 22 studies, 289 BRCA1, 221 BRCA2 [67] |
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 [43] |
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 [70] |
|
40% |
|
22% |
|
|
LOD = logarithm of the odd
|
aIncidence to age 80 years
|
bIncidence to age 75 years
|
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