Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants
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Date
2024-10
Journal Title
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Volume Title
Publisher
The Indian Academy of Sciences
Abstract
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.
Description
Keywords
familial cancers, pyruvate dehydrogenase, lipoic acid synthetase, breast cancer, ovarian cancer.
Citation
BISWAS SHRISTI, MANEKAR SWATI, KANTHARIA SHEHNAZ, BAKSHI SONAL . Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants. Journal of Genetics . 2024 Oct; 103: 1-8