R1699W in BRCA1


Description 

Arg1699>Trp 
5214C>T

Biochemical data 

The crystal structure of the BRCT repeat region of BRCA1 predicted that this change would have a deleterious effect on protein folding (1).

Co-segregation with disease 

R1699W has been reported twice in the Dutch BRCA1/2 mutation database. In family RUL076 (see figure), the mutation was detected in two ovarian cancer patients (dx73 and dx65, resp.) and in one bilateral breast cancer patient (dx34, 37). Another breast cancer patient (dx41) is an obligate carrier. A male with colon cancer at age 53 was also a carrier, but a breast cancer patient marrying into the family (dx79) did not carry R1699W. No DNA sample was available to test the other 4 breast cancer patients.

References

1. Williams RS, Green R, Glover JNM (2001) Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nature Struct Biol, 8: 838-842.


Last update: 18-03-2002