Germline Mutations of Brca1 and Brca2 Genes – Founder Effects and Contribution to Ovarian Carcinoma in Finland
نویسندگان
چکیده
............................................................................................................................9 INTRODUCTION ..................................................................................................................11 REVIEW OF THE LITERATURE ........................................................................................13 1 General features of ovarian carcinoma ................................................................................13 2 General features of breast carcinoma...................................................................................14 3 Genes involved in carcinogenesis........................................................................................14 4 Inherited predisposition to cancer........................................................................................15 5 Inherited predisposition to breast and ovarian carcinoma ...................................................16 6 BRCA1 and BRCA2 genes ...................................................................................................18 6.1 Structure and expression .........................................................................................18 6.2 BRCA1 and BRCA2 gene-encoded protein products and their proposed functions.................................................................................................................18 6.3 Inherited germline mutations ..................................................................................20 6.3.1 Spectrum .......................................................................................................20 6.3.2 Ethnic differences in mutation spectra ..........................................................22 6.3.3 Prevalence .....................................................................................................23 6.4 Risk of cancer in BRCA1 and BRCA2 mutation carriers.........................................29 6.5 Prediction of presence of a BRCA1/BRCA2 germline mutation in a family ...........31 6.6 Characteristics of BRCA1 and BRCA2 mutation-associated breast and ovarian carcinomas .............................................................................................................32 6.6.1 Breast carcinomas .........................................................................................32 6.6.2 Ovarian carcinomas.......................................................................................33 6.7 Prognosis of patients with BRCA1 or BRCA2 mutation-associated breast or ovarian carcinoma ..................................................................................................34
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