Breast Cancer-predisposing Genes in Finnish Breast and Ovarian Cancer Families
نویسندگان
چکیده
2. THE BREAST CANCER SUSCEPTIBILITY GENE 1 (BRCA1) ………………………….. 10 2.1 The BRCA1 gene is large with two distinct promoters 2.2 The BRCA1 protein is nuclear and has several functional domains 2.3 BRCA1 expression 2.4 Pathological variants of the BRCA1 gene 2.4.1 There is a wide spectrum of BRCA1 germline mutations 2.4.2 Germline mutations are found at a high frequency in families with multiple affected members 2.4.3 BRCA1 germline mutations predispose to several cancer types 2.4.4 The survival of mutation carriers does not seem to differ from sporadic cases 2.4.5 Somatic deletions encompassing the BRCA1 locus are frequent in breast cancer tissue 2.5 Murine Brca1 3. THE BREAST CANCER SUSCEPTIBILITY GENE 2 (BRCA2) ………………………….. 14 3.1 The BRCA2 locus is situated at 13q12 3.2 The BRCA2 protein has no similarity to other known proteins 3.2.
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