Arg2034 is lying between the 6th and 7th internal repeat in BRCA2 (1).
R2034C has been reported only once in the Dutch BRCA1/2
mutation database so far. It was detected in male breast cancer family RUL023. A
bilateral breast cancer patient (dx35, 41) and her cousin, a breast cancer
patient diagnosed at age 33, were found to carry it. No DNA was available for
the sister of the latter patient, who developed a uterus carcinoma at age 62.
Haplotype analysis with flanking markers for BRCA2 indicated that her four
children all segregated a haplotype which could be associated with the wildtype
BRCA2 allele in her sisters and their children. It remains possible, therefore,
that she carries the R2034C. The male breast cancer patient (dx76) and his
sister, diagnosed with breast cancer at age 48, are obligate carriers.
This family had a >75% prior probability of being due to a mutation in BRCA2
Conclusion: R2034C shows perfect co-segregation with breast cancer in family RUL023.
This family had a >75% prior probability of being due to a mutation in BRCA2 (2).
1. Bignell G, Micklem G, Stratton MR, Ashworth A, Wooster R (1997) The BRC repeats are conserved in mammalian BRCA2 proteins. Hum Mol Genet, 6: 53-58.
2. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Birch JM, Lindblom A, Stoppa-Lyonnet D, Bignon Y, Borg A, Hamann U, Haites N, Scott RJ, Maugard CM, Vasen H, Seitz S, Cannon-Albright LA, Schofield A, Zelada-Hedman M, Breast Cancer Linkage Consortium (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet, 62: 676-689.
Last update: 19-03-2002