BRCA2 mutations in primary breast and ovarian cancers
作者： Johnathan M Lancaster , Richard Wooster , Jonathon Mangion , Catherine M Phelan , Charles Cochran
DOI: 10.1038/NG0696-238
关键词: Ovarian cancer 、 BRCA2 Protein 、 Germline mutation 、 Mammary gland 、 Loss of heterozygosity 、 Missense mutation 、 Biology 、 Cancer research 、 Endocrinology 、 Tumor suppressor gene 、 Internal medicine 、 Breast cancer
摘要: The second hereditary breast cancer gene, BRCA2, was recently isolated. Germline mutations of this gene predispose carriers to cancer, and, a lesser extent, ovarian cancer. Loss heterozygosity (LOH) at the BRCA2 locus has been observed in 30-40% sporadic and tumours, implying that may act as tumour suppressor proportion cases. To define role we screened entire for using combination techniques 70 primary carcinomas 55 epithelial carcinomas. Our analysis revealed alterations 2/70 tumours none One alteration found cancers 2-basepair (bp) deletion (4710delAG) which subsequently shown be germline mutation, other somatic missense mutation (Asp3095Glu) unknown significance. results suggest is very infrequent target inactivation carcinomas, similar obtained BRCA1.
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