Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants
Shristi Biswas1, Swati Manekar, Shehnaz Kantharia
1Institute of Science, Nirma University, SG Highway, Ahmedabad 382 481, India. sonal.bakshi@nirmauni.ac.in.
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.
Related Concept Videos
Histone Variants at the Centromere
Cancers Originate from Somatic Mutations in a Single Cell
The Ras Gene
Ras is a...
Gene Conversion
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Mismatch Repair
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...


