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New mutation in BRCA1 gene detected in Austrian HBOC family

✍ Scribed by T.M.U. Wagner; R. Möslinger; O. Scheiner; H. Breiteneder; P. Devilee


Book ID
102261643
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
106 KB
Volume
11
Category
Article
ISSN
1059-7794

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✦ Synopsis


Germline mutations in the BRCAl gene confer susceptibility to hereditary breast and ovarian cancer . We report a new mutation in the BRCAl gene in an Austrian hereditary breast and ovarian cancer (HBOC) family with four breast cancer cases and one ovarian cancer in three generations. The average age of onset for breast cancer was 36.5 years. Linkage analysis revealed


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BRCA1-related breast cancer in Austrian
✍ Teresa M. U. Wagner; Regine A. Möslinger; Daniela Muhr; Gudrun Langbauer; Kora H 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 French ⚖ 76 KB 👁 2 views

We identified 17 BRCA1 mutations in 86 Austrian breast and ovarian cancer families (20%) that were screened for mutations by denaturing high-performance liquid chromatography (DHPLC) and the protein truncation test (PTT). Eleven distinct mutations were detected, 4 of them (962del4, 2795del4, 3135del