{"title":"家族性癌症病例中的种系遗传变异：RAD51D和其他四种共分离变异。","authors":"Shristi Biswas, Swati Manekar, Shehnaz Kantharia, Sonal Bakshi","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Cancer is a multifactorial, multi-step process of pathogenesis; however, in the case of familial cancers, genetic aetiology can play a significant role. Identifying genetic variants in cancer patients having a strong family history of cancer as well as their unaffected blood relatives can unravel their role in predisposition to cancer. Here, we report the findings of whole-exome sequencing in a patient (77/F) diagnosed with ovarian cancer and her daughters (61/F) and (59/F) who were diagnosed with breast and ovarian cancers along with her asymptomatic son (53/M). All the four family members show segregation of <i>RAD51D</i> (rs200564819). Other incidental findings <i>ADAMTS13</i> (rs142572218) and <i>SYCE1</i> (rs201873178) genetic variants in proband and son, and <i>LIAS</i> (rs546751789) and <i>PDHA1</i>(rs747051654) genetic variants in son have also been reported.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":null,"pages":null},"PeriodicalIF":2.9000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants.\",\"authors\":\"Shristi Biswas, Swati Manekar, Shehnaz Kantharia, Sonal Bakshi\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Cancer is a multifactorial, multi-step process of pathogenesis; however, in the case of familial cancers, genetic aetiology can play a significant role. Identifying genetic variants in cancer patients having a strong family history of cancer as well as their unaffected blood relatives can unravel their role in predisposition to cancer. Here, we report the findings of whole-exome sequencing in a patient (77/F) diagnosed with ovarian cancer and her daughters (61/F) and (59/F) who were diagnosed with breast and ovarian cancers along with her asymptomatic son (53/M). All the four family members show segregation of <i>RAD51D</i> (rs200564819). Other incidental findings <i>ADAMTS13</i> (rs142572218) and <i>SYCE1</i> (rs201873178) genetic variants in proband and son, and <i>LIAS</i> (rs546751789) and <i>PDHA1</i>(rs747051654) genetic variants in son have also been reported.</p>\",\"PeriodicalId\":15907,\"journal\":{\"name\":\"Journal of Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"EDUCATION & EDUCATIONAL RESEARCH\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Genetics","FirstCategoryId":"99","ListUrlMain":"","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"EDUCATION & EDUCATIONAL RESEARCH","Score":null,"Total":0}
Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants.
Cancer is a multifactorial, multi-step process of pathogenesis; however, in the case of familial cancers, genetic aetiology can play a significant role. Identifying genetic variants in cancer patients having a strong family history of cancer as well as their unaffected blood relatives can unravel their role in predisposition to cancer. Here, we report the findings of whole-exome sequencing in a patient (77/F) diagnosed with ovarian cancer and her daughters (61/F) and (59/F) who were diagnosed with breast and ovarian cancers along with her asymptomatic son (53/M). All the four family members show segregation of RAD51D (rs200564819). Other incidental findings ADAMTS13 (rs142572218) and SYCE1 (rs201873178) genetic variants in proband and son, and LIAS (rs546751789) and PDHA1(rs747051654) genetic variants in son have also been reported.
期刊介绍：
The journal retains its traditional interest in evolutionary research that is of relevance to geneticists, even if this is not explicitly genetical in nature. The journal covers all areas of genetics and evolution,including molecular genetics and molecular evolution.It publishes papers and review articles on current topics, commentaries and essayson ideas and trends in genetics and evolutionary biology, historical developments, debates and book reviews. From 2010 onwards, the journal has published a special category of papers termed ‘Online Resources’. These are brief reports on the development and the routine use of molecular markers for assessing genetic variability within and among species. Also published are reports outlining pedagogical approaches in genetics teaching.
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