|
|
Table 2. Studies of Cancer Penetrance Among BRCA1 and BRCA2 Mutation Carriers: Cumulative Incidence of Breast Cancer
|
Cumulative Incidence of Breast Cancer to Given Age
|
|
BRCA1
|
BRCA2
|
BRCA1/2
|
Population
|
50 yr
|
70 yr
|
50 yr
|
70 yr
|
50 yr
|
70 yr
|
Linkage analysis-maximization of logarithm of the odd (LOD) score
|
—214 breast-ovary families (BCLC) [15] |
|
|
|
|
59% |
82% |
—BRCA1-linked families (BCLC) [56] |
51% |
85% |
|
|
|
|
—237 breast and breast-ovarian cancer families (BCLC) [58] |
49% |
71% |
28% |
84% |
|
|
Incidence of second cancers after breast cancer
|
—33 BRCA1-linked families (BCLC) [55] |
73% |
87% |
|
|
|
|
—BRCA1-linked families (BCLC) [56] |
50% |
65% |
|
|
|
|
Analysis of family members
|
—Jewish ovarian cancer cases, 7 BRCA1, 3 BRCA2 [57] |
30%a |
50%a |
16%a |
23%a |
|
|
—Jewish breast-ovary families, 16 BRCA1, 9 BRCA2 [57] |
37%a |
64%a |
18%a |
49%a |
|
|
Kin cohort using family and cancer registries
|
—Unselected Icelandic breast cancer patients, 56 female and 13 male BRCA2 995del5 [59] |
|
|
17% |
37% |
|
|
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] |
|
|
37% |
52% |
|
|
Modified segregation analysis - all available relatives tested (MENDEL)
|
—Australian population-based breast cancer, aged <40 years, 9 BRCA1, 9 BRCA2 [60] |
|
|
|
|
10% |
40% |
Kin cohort
|
—Community-based Washington,
D.C. area Jews, 61 BRCA1, 59 BRCA2 [46] |
38% |
59% |
26% |
51% |
33% |
56% |
—Jewish women with breast cancer, 34 BRCA1, 15 BRCA2 [61] |
|
60% |
|
28% |
|
|
—Jewish women with ovarian cancer, 44 BRCA1, 24 BRCA2 [64] |
31%b |
44%c |
6%b |
37%c |
|
|
—Unselected cases ovarian cancer, 39 BRCA1, 21 BRCA2 [42] |
|
68%d |
|
14%d |
|
|
Modified segregation analysis (MENDEL)
|
—Breast cancer cases, aged <55 years, 8 BRCA1, 16 BRCA2 [62] |
32% |
47% |
18% |
56% |
21% |
54% |
—Families with 2+ cases ovarian cancer, 40 BRCA1, 11 BRCA2 [63] |
39% |
72% |
19% |
71% |
|
|
—Unselected cases ovarian cancer, 12 BRCA1 [63] |
34% |
50% |
|
|
|
|
—164 BRCA2-positive families from BCLC [66] |
|
|
|
41% |
|
|
—Unselected cases ovarian or breast cancer from 22 studies, 289 BRCA1, 221 BRCA2 [68] |
38% |
65% |
15% |
45% |
|
|
—Australian multiple-case families, 28 BRCA1, 23 BRCA2 [69] |
|
48% |
|
74% |
|
|
Relative risk times population rates
|
—Jewish hospital-based ovarian cancer patients, 103 BRCA1, 44 BRCA2 founder mutations [65] |
18% |
59% |
6% |
38% |
|
|
Direct Kaplan-Meier estimates restricted to relatives known to be mutation positive
|
—Unselected Jewish breast cancer patients from NY, 67 BRCA1, 37 BRCA2 [43] |
39% |
69% |
34% |
74% |
|
|
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] |
|
46% |
|
43% |
|
|
aOutcome is breast OR ovarian cancer.
|
bIncidence to age 55
years.
|
cIncidence to age 75 years.
|
dIncidence to age 80 years.
|
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