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High proportion ofBRCA1/2founder mutations in Hispanic breast/ovarian cancer families from Colombia

✍ Scribed by Diana Torres; Muhammad Usman Rashid; Fabian Gil; Angela Umana; Giancarlo Ramelli; Jose Fernando Robledo; Mauricio Tawil; Lilian Torregrosa; Ignacio Briceno; Ute Hamann


Publisher
Springer US
Year
2006
Tongue
English
Weight
164 KB
Volume
103
Category
Article
ISSN
0167-6806

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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