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The contribution of founder mutations in BRCA1 to breast cancer in Belarus
Author(s) -
Uglanitsa N,
Oszurek O,
Uglanitsa K,
Savonievich E,
Lubiński J,
Cybulski C,
Debniak T,
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.1399-0004.2010.01439.x
Subject(s) - breast cancer , founder effect , ovarian cancer , mutation , cancer , oncology , medicine , gynecology , genetics , gene , biology , genotype , haplotype
Uglanitsa N, Oszurek O, Uglanitsa K, Savonievich E, Lubiński J, Cybulski C, Debniak T, Narod SA, Gronwald J. The contribution of founder mutations in BRCA1 to breast cancer in Belarus. Mutations in the BRCA1 gene increase susceptibility to both breast and ovarian cancer. In some countries, including several in Eastern Europe, founder mutations in the BRCA1 gene are responsible for a significant proportion of breast cancer cases. To estimate the hereditary proportion of breast cancer in Belarus, we sought the presence of any of three founder mutations in BRCA1 (4153delA, 5382insC and C61G) in 500 unselected cases of breast cancer. These mutations have previously been identified in breast/ovarian cancer families from Belarus and from other Slavic countries, including Poland and Russia. One of the three founder mutations in BRCA1 was present in 38 of 500 unselected cases of breast cancer (7.6%). A mutation was found in 12.6% of women diagnosed before age 50 and 5.6% of women diagnosed after age 50. A mutation was identified in 2 of 251 newborn controls (0.8%). The hereditary proportion of breast cancers in Belarus is among the highest of any countries studied to date.