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- W2616823193 abstract "Germline mutations in breast cancer susceptibility genes, BRCA1and BRCA2, are responsible for a substantial proportion ofhigh-risk breast and breast/ovarian cancer families. Tocharacterize the spectrum of BRCA1 and BRCA2 mutations, wescreened Czech families with reast/ovarian cancer using thenon-radioactive protein truncation test, heteroduplex analysisand direct sequencing. In a group of 100 high-risk breast andbreast/ovarian cancer families, four novel frame shiftmutations were identified in BRCA1 and BRCA2 genes. In BRCA1,two novel frame shift mutations were identified as3761-3762delGA and 2616-2617ins10; in BRCA2, two novel frameshift mutations were identified as 5073-5074delCT and 6866delC.Furthermore, a novel missense substitution M18K in BRCA1 genein a breast/ovarian cancer family was identified which liesadjacent just upstream of the most highly conserved C3HC4 RINGzinc finger motif. To examine the tertiary structure of theRING zinc finger domain and possible effects of M18Ksubstitution on its stability, we used threading techniquesaccording to the crystal structure of RAG1 dimerization domainof the DNA-binding protein." @default.
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- W2616823193 date "2001-01-01" @default.
- W2616823193 modified "2023-10-17" @default.
- W2616823193 title "Four novel germline BRCA1 and BRCA2 mutations in breast andbreast-ovarian cancer" @default.
- W2616823193 hasPublicationYear "2001" @default.
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