Article
Identification and characterization of ATM founder mutation in BRCA-negative breast cancer patients of Arab ethnicity.
Scientific reports - 27 Nov 2023
Bu Rong, Siraj Abdul K, Al-Rasheed Maha, Iqbal Kaleem, Azam Saud, Qadri Zeeshan, Haqawi Wael, Tulbah Asma, Al-Dayel Fouad, Almalik Osama, Al-Kuraya Khawla S
Abstract excerpt
Breast cancer (BC) is the most prevalent malignancy among women worldwide with germline pathogenic variants/likely pathogenic variants (PVs/LPVs) in BRCA1/2 accounting for a large portion of hereditary cases. Recently, heterozygous PVs/LPVs in the ATM serine/threonine kinase or Ataxia-telangiectasia mutated gene (ATM) has been identified as a moderate susceptibility factor for BC in diverse ethnicities. However,...
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