case3 - BRCA 2 BRCA 2 By Inki Lobbens Katarzyna Adamczuk...

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Unformatted text preview: BRCA 2 BRCA 2 By: Inki Lobbens Katarzyna Adamczuk Thomas Vanhulle Evy Goossens Breast cancer 2, early onset • tumor suppressor genes • protein located in nucleus • gene expressed in most tissues • remains elevated during the S phase prevention from growing and dividing too rapidly or in an uncontrolled way maintaining the stability of a cell's genetic information Chromosome 13 • DNA repair process • binding to RAD51 assist in repair of DNA double stranded breaks Pathologic situation s frameshift deletions and insertions s nonsense mutations => premature truncation of protein => loss of function s autosomal dominant inheritance 800 deleterious BRCA2 mutations s de novo mutations are extremely rare s strong founder effects s penetrance is uncertain and highly variable s mutations in central part of gene: ovarian cancer prostate cancer s anticipation is not observed Pathologic situation 800 deleterious BRCA2 mutations BRCA1 BRCA2 85% 85% later onset BRCA1 BRCA2 60% 27% mutations in OCCR OV/BR Pathologic situation 800 deleterious BRCA2 mutations BRCA2 Breast cancer 10% Pancreatic cancer 7% Prostate cancer 8% stomach cancer cancers of larynx (7X) esophagus colon gallbladder and bile duct Fallopian tube cancer (120X) melanoma (7%) Pathologic situation Fanconi anemia type D1 s two faulthy copies of the BRCA2 gene s reduce the amount of the BRCA2 protein to very low levels s breaks in DNA are not repaired normally s prone to several types of cancer- cancers of blood-forming tissue - solid tumors s bone marrow suppression Prevention methods...
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This note was uploaded on 05/28/2010 for the course WE BIBI000000 taught by Professor Johangrooten during the Spring '10 term at Ghent University.

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case3 - BRCA 2 BRCA 2 By Inki Lobbens Katarzyna Adamczuk...

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