BRCA1 mutations in German breast-cancer families.
We analyzed germline mutations of the BRCA1 gene in 20 German breast/ovarian-cancer families. BRCA1 mutations co-segregating with breast-cancer susceptibility were identified in 3 of these families. All mutations were found to generate a premature stop codon leading to the synthesis of truncated BRCA1 proteins of different length. Nine polymorphisms were detected in BRCA1, 4 of which have not been described previously. Analysis of familial tumors for LOH revealed that only the disease-related allele of BRCA1 was present.
Department of Tumorgenetik, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.
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Jandrig
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Grade
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Seitz
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Waindzoch
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Müller
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Bender
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Nothnagel
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Rohde
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Schlag
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Kath
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Höffken
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Scherneck
D000328:Adult; D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics*; D004198:Disease Susceptibility; D005190:Family; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D005858:Germany / Q000208:ethnology; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree