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Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.

Cancer genetics - 1 Nov 2022

Agaoglu Nihat Bugra, Ng Ozden Hatirnaz, Unal Busra, Dogan Ozlem Akgun, Amanvermez Ufuk, Yildiz Jale, Doganay Levent, Ghazani Arezou A, Rana Huma Q

Abstract excerpt

Concurrent pathogenic variants (PVs) in cancer predisposition genes have been reported in 0.1-2% of hereditary cancer (HC) patients. Determining concurrent PVs is crucial for the diagnosis, treatment, and risk assessment of unaffected family members. Next generation sequencing based diagnostic tests, which are widely used in HCs, enable the evaluation of multiple genes in parallel. We have screened the family...

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PMID: 36368126
DOI: 10.1016/j.cancergen.2022.10.144

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