Premium
The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania
Author(s) -
Elsakov P,
Kurtinaitis J,
Petraitis S,
Ostapenko V,
Razumas M,
Razumas T,
Meskauskas R,
Petrulis K,
Luksite A,
Lubiński J,
Górski B,
Narod SA,
Gronwald J
Publication year - 2010
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2010.01404.x
Subject(s) - founder effect , ovarian cancer , oncology , breast cancer , medicine , gynecology , cancer research , genetics , biology , cancer , gene , genotype , haplotype
Elsakov P, Kurtinaitis J, Petraitis S, Ostapenko V, Razumas M, Razumas T, Meskauskas R, Petrulis K, Luksite A, Lubiński J, Górski B, Narod SA, Gronwald J. The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania. 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.