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- W4247489438 abstract "9687 Background: BRCA 1 and BRCA 2 have been identified as the genes responsible of hereditary breast/ovarian cancer in many families. Initial publications reported BRCA 1 germline mutations to be more frequent than those involving BRCA 2. We want to assess the relative frequency of BRCA 1 versus BRCA 2 mutations in families with hereditary breast/ovarian cancer from the region of Aragón, Spain. Methods: All patients attending the family cancer clinic of the University Hospital of Zaragoza, Spain, who fullfilled the following criteria: (1) At least 3 cases of breast/ovarian cancer in more than 2 generations and at least one case < 45 years old or/and (2) male breast cancer associated with female breast cancer in first-degree relatives, were offered BRCA 1 & BRCA 2 testing. BRCA 1 was performed first. Results: In 40 families tested for BRCA 1, 3 germline mutations were identified (7.5%). BRCA 2 testing is complete in 27 of these families. 6 BRCA 2 mutations (22.2%) were identified. Clinical features of families harbouring BRCA 1 vs BRCA 2 mutation will be presented. Conclusions: BRCA 2 mutations are significantly more frequent than those involving BRCA 1 in families with breast/ovarian cancer from the region of Aragon, Spain. No significant financial relationships to disclose." @default.
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- W4247489438 date "2004-07-15" @default.
- W4247489438 modified "2023-09-27" @default.
- W4247489438 title "Relative frequency of BRCA2 versus BRCA1 mutations in Spanish families with hereditary breast/ovarian cancer" @default.
- W4247489438 doi "https://doi.org/10.1200/jco.2004.22.14_suppl.9687" @default.
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