Hereditary BreastOvarian Cancer Syndromes Screening …：遗传性癌症综合征breastovarian筛选….pptVIP

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2018-06-23 发布于浙江
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Hereditary BreastOvarian Cancer Syndromes Screening …：遗传性癌症综合征breastovarian筛选….ppt

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Hereditary BreastOvarian Cancer Syndromes Screening …：遗传性癌症综合征breastovarian筛选…

The Genetics of Breast and Ovarian Cancer Susceptibility Patricia Tonin, PhD Associate Professor Depts. Medicine, Human Genetics Oncology McGill University McGill University Health Centre patricia.tonin@mcgill.ca Features of Families with Genetic Predisposition Cancer occurs in first, second or third degree relatives in relation to cancer case Minimum of 3 cases per family Cancers occur in same branch of the family Maternal OR Paternal Average age of diagnosis is often younger than average age of diagnosis of all cancers of same site ( 55 yrs of age) Mendelian mode of inheritance Autosomal dominant Management of High Risk Women[ 30 years of age 50 years of age] Screening Mammography (MRI?) yearly Pelvic examination, CA125 serum test, transvaginal ultrasonography every 6 months Cancer prevention Breast cancer prophylactic mastectomy chemoprevention? Ovarian cancer: prophylactic oophorectomy Breast cancer families that feature an ovarian cancer case most likely harbor BRCA1 mutations Breast cancer families that feature no ovarian cancer cases and/or a male breast cancer case most likely harbor a BRCA2 mutation Genetic Testing Commercially available via Myriad Genetics Provided at no cost to the individual but on a per case basis via genetic counsel ling centers in Quebec Time-line - very good (~ 1 month) Testing not comprehensive??? Research laboratories Provided at no cost to the individual Time-line is usually longer ( 3 months) Testing may be more comprehensive Assessing Sequence Variants NO FUNCTIONAL ASSAY! Deleterious mutation Predicted change in function based on deduced amino acid sequence Segregates with cancer cases in families Sequence variant of unknown significance Polymorphism No net change in amino acid sequence Does not segregates with cancer cases in families Frequency in unaffected controls and breast cancer cases is similar When a deleterious mutation is found Mutation detection is offered to other members of the family to