The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania

作者：Elsakov P; Kurtinaitis J; Petraitis S; Ostapenko V; Razumas M; Razumas T; Meskauskas R; Petrulis K; Luksite A; Lubinski J; Gorski B; Narod S A^*; Gronwald J

来源：Clinical Genetics, 2010, 78(4): 373-376.

DOI：10.1111/j.1399-0004.2010.01404.x

• BRCA1 founder mutation
• breast cancer
• colorectal cancer
• frequency
• ovarian cancer
• unselected patients

We evaluated the prevalence of BRCA1 founder mutations in unselected cases of breast, ovarian and colon cancer from Lithuania. We identified a founder mutation (4153delA, 5382insC or C61G) in 6% of 235 unselected cases of breast cancer and in 19% of 43 unselected cases of ovarian cancer. Only one patient with a mutation was identified among 178 cases of colon cancer. No mutation was identified among 422 newborn controls. This data indicates that the genetic burden of breast and ovarian cancer attributable to BRCA1 mutations in Lithuania is very high and supports the recommendation that all cases of breast and ovarian cancer in Lithuania be offered genetic testing.

• 出版日期2010-10