 |
|
|
Table 3. Penetrance of Cancer in BRCA1 and BRCA2 Mutation Carriers
|
Cancer Sites [6-8,12,50,100]
|
BRCA1 Mutation Carrier
|
BRCA2 Mutation Carrier
|
|
Strength of Evidence
|
Magnitude of Absolute Risk
|
Strength of Evidence
|
Magnitude of Absolute Risk
|
|
Known to be associated (well studied)
|
|
|
| Breast (female) |
+++ |
A |
+++ |
A |
| Ovary, fallopian tube, peritoneum |
+++ |
A |
+++ |
B |
| Breast (male) |
+ |
U |
+++ |
C |
| Pancreas |
++ |
C |
+++ |
C |
| Prostate |
+ |
U |
+++ |
A |
|
Thought not to be associated (well studied)
|
|
|
| Colon/rectum |
- |
|
- |
|
|
Not adequately studied
|
|
|
| Melanoma (skin) |
|
|
+ |
C |
| Uterus |
+/- |
C |
|
|
| Melanoma (uveal) |
|
|
+/- |
C |
| Stomach |
|
|
+/- |
C |
| Testicular |
+/- |
C |
|
|
| Gallbladder/bile duct |
|
|
+/- |
C |
| Bladder |
|
|
|
|
| Head and neck |
|
|
|
|
|
+++ Multiple studies demonstrated association and are relatively consistent.
|
|
++ Multiple studies and the predominance of the evidence is positive.
|
|
+ May be an association, predominantly single studies; smaller limited studies and/or inconsistent but weighted toward positive.
|
|
+/- Mixed (some studies demonstrate an association and others do not).
|
|
- No association shown in studies of adequate size.
|
|
A = High (> 20%); B = Moderate (10–20%); C = Low (<10%); U = Undefined.
|
References
-
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]
-
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]
-
Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 91 (15): 1310-6, 1999.
[PUBMED Abstract]
-
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]
-
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]
|
|
|
