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Founder Mutations of BRCA1 and BRCA2 in North American Families of Polish Origin That Are Affected with Breast Cancer

✍ Scribed by Patricia de los Rios; Elaine Jack; Graciela Kuperstein; Henry Lynch; Jan Lubinski; Steven A. Narod

Book ID
117853542
Publisher
American Society of Human Genetics
Year
2001
Tongue
English
Weight
44 KB
Volume
68
Category
Article
ISSN
0002-9297

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A high proportion of founder BRCA1 mutat
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## Abstract Three mutations in __BRCA1__ (5382insC, C61G and 4153delA) are common in Poland and account for the majority of mutations identified to date in Polish breast and breast–ovarian cancer families. It is not known, however, to what extent these 3 founder mutations account for all of the BRC

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Germline mutations in the BRCA1 and BRCA2 genes account for the majority of high-risk breast/ovarian cancer families, depending on the population studied. Previously, BRCA1 mutations were described in women from Western Poland. To further characterize the spectrum of BRCA1 mutations and the impact o