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Recently, heterozygous PVs\/LPVs in the ATM serine\/threonine kinase or Ataxia-telangiectasia mutated gene (<jats:italic>ATM<\/jats:italic>) has been identified as a moderate susceptibility factor for BC in diverse ethnicities. However, the prevalence of <jats:italic>ATM<\/jats:italic> PVs\/LPVs in BC susceptibility in Arab populations remains largely unexplored. This study investigated the prevalence of <jats:italic>ATM<\/jats:italic> PVs\/LPVs among BC patients from Saudi Arabia, employing capture-sequencing technology for <jats:italic>ATM<\/jats:italic> PVs\/LPVs screening in a cohort of 715 unselected BC patients without <jats:italic>BRCA1\/2<\/jats:italic> PVs\/LPVs. In addition, founder mutation analysis was conducted using the PHASE program. In our entire cohort, four unique PVs\/LPVs in the <jats:italic>ATM<\/jats:italic> gene were identified in six cases (0.8%). Notably, one recurrent LPV, c.6115G\u2009&gt;\u2009A:p.Glu2039Lys was identified in three cases, for which haplotype analysis confirmed as a novel putative founder mutation traced back to 13 generations on average. This founder mutation accounted for half of all identified mutant cases and 0.4% of total screened cases. This study further reveals a significant correlation between the presence of <jats:italic>ATM<\/jats:italic> mutation and family history of BC (p\u2009=\u20090.0127). These findings underscore an approximate 0.8% prevalence of <jats:italic>ATM<\/jats:italic> germline PVs\/LPVs in Arab BC patients without <jats:italic>BRCA1\/2<\/jats:italic> PVs\/LPVs and suggest a founder effect of specific recurrent <jats:italic>ATM<\/jats:italic> mutation. These insights can help in the design of a genetic testing strategy tailored to the local population in Saudi Arabia, thereby, enabling more accurate clinical management and risk prediction.<\/jats:p>","DOI":"10.1038\/s41598-023-48231-0","type":"journal-article","created":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T09:02:35Z","timestamp":1701162155000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification and characterization of ATM founder mutation in BRCA-negative breast cancer patients of Arab ethnicity"],"prefix":"10.1038","volume":"13","author":[{"given":"Rong","family":"Bu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul K.","family":"Siraj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Al-Rasheed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaleem","family":"Iqbal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saud","family":"Azam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeeshan","family":"Qadri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wael","family":"Haqawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Tulbah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fouad","family":"Al-Dayel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osama","family":"Almalik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khawla S.","family":"Al-Kuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,11,27]]},"reference":[{"issue":"5","key":"48231_CR1","doi-asserted-by":"publisher","first-page":"E359","DOI":"10.1002\/ijc.29210","volume":"136","author":"J Ferlay","year":"2015","unstructured":"Ferlay, J. et al. 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