References

BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet 2001 10(7) 705-713. 2. Arnold MA, Goggins M. BRCA2 and predisposition to pancreatic and other cancers. Expert Rev Mol Med 2001 3 1-10. 3. Brody LC, Biesecker BB. Breast cancer susceptibility genes. BRCA1 and BRCA2. Medicine (Baltimore) 1998 77(3) 208-226. 4. Brody LC, Biesecker BB. Breast cancer the high-risk mutations. Hosp Pract (Minneap) 1997 32(10) 59-63,67-68,70-72 passim. 5. Jasin M....

Methods Relying on Gel Electrophoresis to Resolve Heteroduplexes from Homoduplexes

Two somewhat distinct families of mutation-screening techniques rely on gel electro-phoresis to resolve heteroduplexes from homoduplexes. The first family is based on electrophoresis of samples in a denaturing gradient, and its basic implementation is referred to as denaturing gradient gel electrophoresis (DGGE). The second relies on the gel matrix itself to achieve separation between homoduplexes and heteroduplexes. Its basic implementation is referred to as conformation-sensitive gel...

BARD1BRCA1Associated RING Domain

BRCA1 -associated really-interesting-new-gene (RING) domain protein (BARD1) was identified in a yeast two-hybrid screen as a binding partner of BRCA1 (81). Like BRCA1, BARD1 has a RING-finger domain BRCA1 and BARD1 form a functional heterodimer through the interaction of those domains (82). The interaction of BRCA1 and BARD1 serves to stabilize the two proteins. Mutations in BRCA1 in the RING domain abrogate the interaction between BRCA1 and BARD1 and are associated with susceptibility to...

Modifiers Of Penetrance And Breast Cancer Genes Other Than Brca

Several studies have noted an increased penetrance for BRCA1 2 in more recent birth cohorts. The NYBCS (9) confirmed Narod's earlier observation of a significant increase in breast cancer risk by the age of 50 years in birth cohorts after 1940 (67 after 1940, 24 before 1940) (39). Ovarian cancer risk did not differ by birth cohort. This increase in incidence for BRCA1 2 mutation carriers parallels an increase in breast cancer in the general U.S. population over that period (37). Antoniou et al....

Types Of Cancer Associated With Brca12 Mutations Ovarian Cancer

The most significant cancer, other than breast cancer, in individuals with BRCA1 2 mutations is ovarian cancer, as reflected in the nomenclature, hereditary breast ovarian cancer (HBOC) syndrome. As with breast cancer, early linkage studies probably overestimated the penetrance of ovarian cancer for BRCA1 2 mutation carriers with estimates by the age of 70 years of 44 for BRCA1 carriers (51) and 27 for BRCA2 carriers (97). In contrast, later studies, utilizing nonlinkage-based ascertainments,...