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。

IF 2.9 4区生物学 Q1 EDUCATION & EDUCATIONAL RESEARCH

Journal of Genetics Pub Date : 2024-01-01

Shristi Biswas, Swati Manekar, Shehnaz Kantharia, Sonal Bakshi

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引用次数: 0

摘要

癌症是一种多因素、多步骤的致病过程；然而，在家族性癌症中，遗传病因可能起着重要作用。对有严重癌症家族史的癌症患者及其未受影响的血亲进行基因变异鉴定，可以揭示基因变异在癌症易感性中的作用。在此，我们报告了对一名确诊为卵巢癌的患者（77/F）、她的女儿（61/F）和（59/F）以及她无症状的儿子（53/M）进行全外显子组测序的结果。所有四位家庭成员都显示出 RAD51D（rs200564819）的分离。此外，还有其他偶然发现：原告和儿子的 ADAMTS13 (rs142572218) 和 SYCE1 (rs201873178) 基因变异，以及儿子的 LIAS (rs546751789) 和 PDHA1 (rs747051654) 基因变异。

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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.

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来源期刊

Journal of Genetics 生物-遗传学

CiteScore

3.10

自引率

0.00%

发文量

审稿时长

1 months

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.