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BRCA1 and BRCA2 germline mutations useful for predicting genetic predisposition of breast cancer or ovarian cancer
BRCA1 and BRCA2 germline mutations useful for predicting genetic predisposition of breast cancer or ovarian cancer
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机译:BRCA1和BRCA2种系突变可用于预测乳腺癌或卵巢癌的遗传易感性
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摘要
PURPOSE: A polynucleotide is provided to inexpensively diagnose a genetic predisposition to breast cancer and ovarian cancer with high efficiency by providing a Korean-specific mutation type which exists on a BRCA1 and BRCA2 nucleotide sequence. CONSTITUTION: A polynucleotide containing BRCA1 gene mutation for diagnosing breast cancer or ovarian cancer is selected from a group consisting of polynucleotides containing 20-100 continuous nucleotide sequences including: substitution at 28th, 824th, 1511th, 2077th, and 2884th bases from G to A; substitution at 1067th and 4459th bases from A to G; duplication of 1511th base, G; duplication of 2157th base, A; duplication of 3982th base, T; deletion of 5548th base, C; deletion of 2296th and 2297th bases, A and G; deletion at 2856th and 2857th bases and 4092th and 4093th bases; substitution at 3213th base from A to C; substitution at 3607th, 3991th, and 4327th, bases from C to T; substitution at 4586th and 4985th bases from T to C; substitution at 5080th base from G to T in a sequence of sequence number 2; substitution at 279th base from G to C in a sequence of sequence number 2; substitution at 200th base from C to T in a sequence of sequence number 3; deletion at 281th base, G in a sequence of sequence number 4; and substitution at 245th base from G to T in a sequence of sequence number 5.
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