{"title":"遗传性卵巢癌","authors":"Mohammed A. Osman","doi":"10.1016/j.cogc.2014.12.006","DOIUrl":null,"url":null,"abstract":"<div><p>About 10% to 15% of ovarian cancers are linked to genetic abnormalities, including breast cancer susceptibility gene (<em>BRCA</em>) mutations, and Lynch syndrome. The aim of this work was to provide comprehensive and updated review of this distinct type of ovarian cancer that carries genetic alterations in relation to its pathology, prevention, prognosis, and management. Genetic ovarian cancer has a distinct pathologic and molecular biology features. <em>BRCA1</em> and <em>BRCA2</em> mutation ovarian cancers are most likely to be high-grade serous adenocarcinomas. Many <em>BRCA1</em>-mutated tumors harbor a mutant <em>p53</em> gene, c-myc overexpression, and epidermal growth factor receptor overexpression. Clinically, genetic ovarian cancer presents at a younger age than sporadic ovarian cancer. For prevention, risk-reduction salpingo-oophorectomy is an effective tool. Chemoprevention by oral contraceptives may represent an option. A recent study demonstrates improved progression-free survival and overall survival in patients whose ovarian cancer displays <em>BRCA1</em> and <em>BRCA2</em> mutation, relative to those who have normal <em>BRCA1</em> and <em>BRCA2</em> function. Recent management advances include PARP (poly[adenosine diphosphate {ADP}–ribose] polymerases) inhibitors. Significant progress has been recently made in elucidating the role of <em>BRCA1</em> and <em>BRCA2</em> mutation and Lynch syndrome on ovarian cancer prognosis and management.</p></div>","PeriodicalId":100274,"journal":{"name":"Clinical Ovarian and Other Gynecologic Cancer","volume":"7 1","pages":"Pages 1-7"},"PeriodicalIF":0.0000,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cogc.2014.12.006","citationCount":"4","resultStr":"{\"title\":\"Genetic Cancer Ovary\",\"authors\":\"Mohammed A. Osman\",\"doi\":\"10.1016/j.cogc.2014.12.006\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>About 10% to 15% of ovarian cancers are linked to genetic abnormalities, including breast cancer susceptibility gene (<em>BRCA</em>) mutations, and Lynch syndrome. The aim of this work was to provide comprehensive and updated review of this distinct type of ovarian cancer that carries genetic alterations in relation to its pathology, prevention, prognosis, and management. Genetic ovarian cancer has a distinct pathologic and molecular biology features. <em>BRCA1</em> and <em>BRCA2</em> mutation ovarian cancers are most likely to be high-grade serous adenocarcinomas. Many <em>BRCA1</em>-mutated tumors harbor a mutant <em>p53</em> gene, c-myc overexpression, and epidermal growth factor receptor overexpression. Clinically, genetic ovarian cancer presents at a younger age than sporadic ovarian cancer. For prevention, risk-reduction salpingo-oophorectomy is an effective tool. Chemoprevention by oral contraceptives may represent an option. A recent study demonstrates improved progression-free survival and overall survival in patients whose ovarian cancer displays <em>BRCA1</em> and <em>BRCA2</em> mutation, relative to those who have normal <em>BRCA1</em> and <em>BRCA2</em> function. Recent management advances include PARP (poly[adenosine diphosphate {ADP}–ribose] polymerases) inhibitors. Significant progress has been recently made in elucidating the role of <em>BRCA1</em> and <em>BRCA2</em> mutation and Lynch syndrome on ovarian cancer prognosis and management.</p></div>\",\"PeriodicalId\":100274,\"journal\":{\"name\":\"Clinical Ovarian and Other Gynecologic Cancer\",\"volume\":\"7 1\",\"pages\":\"Pages 1-7\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2014-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.cogc.2014.12.006\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Ovarian and Other Gynecologic Cancer\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S221295531500006X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Ovarian and Other Gynecologic Cancer","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S221295531500006X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
About 10% to 15% of ovarian cancers are linked to genetic abnormalities, including breast cancer susceptibility gene (BRCA) mutations, and Lynch syndrome. The aim of this work was to provide comprehensive and updated review of this distinct type of ovarian cancer that carries genetic alterations in relation to its pathology, prevention, prognosis, and management. Genetic ovarian cancer has a distinct pathologic and molecular biology features. BRCA1 and BRCA2 mutation ovarian cancers are most likely to be high-grade serous adenocarcinomas. Many BRCA1-mutated tumors harbor a mutant p53 gene, c-myc overexpression, and epidermal growth factor receptor overexpression. Clinically, genetic ovarian cancer presents at a younger age than sporadic ovarian cancer. For prevention, risk-reduction salpingo-oophorectomy is an effective tool. Chemoprevention by oral contraceptives may represent an option. A recent study demonstrates improved progression-free survival and overall survival in patients whose ovarian cancer displays BRCA1 and BRCA2 mutation, relative to those who have normal BRCA1 and BRCA2 function. Recent management advances include PARP (poly[adenosine diphosphate {ADP}–ribose] polymerases) inhibitors. Significant progress has been recently made in elucidating the role of BRCA1 and BRCA2 mutation and Lynch syndrome on ovarian cancer prognosis and management.