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Here, the population prevalence and risk estimations were refined for sixteen recurrent pathogenic\/likely pathogenic DDR gene variants.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Variant genotyping was performed in 2343 unselected Northern Finnish breast cancer cases and 4607 cancer-free controls, and tumor features and family history of cancer for the carriers were examined.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Based on their prevalence and carrier family history, the studied <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> variants, <jats:italic>PALB2<\/jats:italic> c.1592delT, and <jats:italic>ATM<\/jats:italic> c.7570G\u2009&gt;\u2009C were confirmed as high-risk alleles, whereas <jats:italic>CHEK2<\/jats:italic> c.1100delC, <jats:italic>MCPH1<\/jats:italic> c.909_921del, and <jats:italic>RAD50<\/jats:italic> c.687delT were moderate-risk alleles. <jats:italic>FANCM<\/jats:italic> c.5101C\u2009&gt;\u2009T and c.5791C\u2009&gt;\u2009T did not associate with overall breast cancer risk. Double carriers were significantly more common in cases (0.5%, 11\/2343) than controls (0.07%, 3\/4601, OR\u20097.2). The <jats:italic>BRCA1\/2<\/jats:italic> and <jats:italic>PALB2<\/jats:italic> c.1592delT carrier tumors all had high proliferation rates, <jats:italic>PALB2<\/jats:italic> c.1592delT associating also with grade 3 tumors (<jats:italic>p<\/jats:italic>\u2009=\u20090.002). Progesterone receptor (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05) and estrogen receptor positive tumors were enriched in <jats:italic>ATM<\/jats:italic> c.7570G\u2009&gt;\u2009C and <jats:italic>CHEK2<\/jats:italic> c.1100delC carriers, whereas <jats:italic>MCPH1<\/jats:italic> c.904_916del carriers had a significantly high percentage of multifocal tumors (38%, <jats:italic>p<\/jats:italic>\u2009=\u20090.001). Moreover, one <jats:italic>FANCM<\/jats:italic> c.5101C\u2009&gt;\u2009T homozygote case suffered severe side effects from chemotherapy.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>The studied DDR gene variants were present in 9% of the unselected cases. As the presence of germline pathogenic variants can provide additional value for surgical decision-making and affect the choice of oncological treatments, the results promote the benefits of genetic testing as a part of breast cancer diagnostics.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s10549-025-07634-5","type":"journal-article","created":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T09:01:58Z","timestamp":1740560518000},"page":"195-202","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Population-based study of recurrent DNA damage response gene variants in breast cancer cases"],"prefix":"10.1007","volume":"211","author":[{"given":"Anna","family":"Tervasm\u00e4ki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timo A.","family":"Kumpula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mervi","family":"Grip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Koivuluoma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meeri","family":"Seuranen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Winqvist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuomo","family":"Mantere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katri","family":"Pylk\u00e4s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,2,26]]},"reference":[{"key":"7634_CR1","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1111\/j.1399-0004.2012.01859.x","volume":"82","author":"F Lalloo","year":"2012","unstructured":"Lalloo F, Evans DG (2012) Familial breast cancer. 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