{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T03:47:38Z","timestamp":1789789658107,"version":"4.0.1"},"reference-count":68,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T00:00:00Z","timestamp":1618963200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The most common breast cancer (BC) susceptibility genes beyond BRCA1\/2 are ATM and CHEK2. For the purpose of exploring the clinicopathologic characteristics of BC developed by ATM or CHEK2 mutation carriers, we reviewed the archive of our Family Cancer Clinic. Since 2018, 1185 multi-gene panel tests have been performed. Nineteen ATM and 17 CHEK2 mutation carriers affected by 46 different BCs were identified. A high rate of bilateral tumors was observed in ATM (26.3%) and CHEK2 mutation carriers (41.2%). While 64.3% of CHEK2 tumors were luminal A-like, 56.2% of ATM tumors were luminal B-like\/HER2-negative. Moreover, 21.4% of CHEK2-related invasive tumors showed a lobular histotype. About a quarter of all ATM-related BCs and a third of CHEK2 BCs were in situ carcinomas and more than half of ATM and CHEK2-related BCs were diagnosed at stage I-II. Finally, 63.2% of ATM mutation carriers and 64.7% of CHEK2 mutation carriers presented a positive BC family history. The biological and clinical characteristics of ATM and CHEK2-related tumors may help improve diagnosis, prognostication and targeted therapeutic approaches. Contralateral mastectomy should be considered and discussed with ATM and CHEK2 mutation carriers at the first diagnosis of BC.<\/jats:p>","DOI":"10.3390\/genes12050616","type":"journal-article","created":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T12:47:07Z","timestamp":1619009227000},"page":"616","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1854-6701","authenticated-orcid":false,"given":"Angela","family":"Toss","sequence":"first","affiliation":[{"name":"Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"},{"name":"Department of Surgery, Medicine, Dentistry and Morphological Sciences with Transplant Surgery, Oncology and Regenerative Medicine Relevance, University of Modena and Reggio Emilia, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0285-765X","authenticated-orcid":false,"given":"Elena","family":"Tenedini","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7224-4536","authenticated-orcid":false,"given":"Claudia","family":"Piombino","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0658-8004","authenticated-orcid":false,"given":"Marta","family":"Venturelli","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Marchi","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Gasparini","sequence":"additional","affiliation":[{"name":"Department of Oncology, Arcispedale S. Maria Nuova IRCCS, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Barbieri","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Razzaboni","sequence":"additional","affiliation":[{"name":"Hospital Psychology Service, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Domati","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"},{"name":"Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Caggia","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"},{"name":"Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3567-3278","authenticated-orcid":false,"given":"Giovanni","family":"Grandi","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy"},{"name":"Obstetrics and Gynecology Unit, Department of Obstetrics, Gynecology and Pediatrics, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7780-2851","authenticated-orcid":false,"given":"Francesca","family":"Combi","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, International Doctorate School in Clinical and Experimental Medicine, University of Modena and Reggio Emilia, 41124 Modena, Italy"},{"name":"Division of Breast Surgical Oncology, Department of Medical and Surgical, Maternal-Infantile and Adult Sciences, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Tazzioli","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy"},{"name":"Division of Breast Surgical Oncology, Department of Medical and Surgical, Maternal-Infantile and Adult Sciences, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Dominici","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"},{"name":"Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0981-2542","authenticated-orcid":false,"given":"Enrico","family":"Tagliafico","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy"},{"name":"Diagnostic Hematology and Clinical Genomics Unit, Department of Laboratory Medicine and Pathology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"},{"name":"Center for Genome Research, University of Modena and Reggio Emilia, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8950-8561","authenticated-orcid":false,"given":"Laura","family":"Cortesi","sequence":"additional","affiliation":[{"name":"Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1001\/jamaoncol.2015.2690","article-title":"Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment","volume":"1","author":"Desmond","year":"2015","journal-title":"JAMA Oncol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3282","DOI":"10.1245\/s10434-015-4754-2","article-title":"Multigene panel testing detects equal rates of pathogenic BRCA1\/2 mutations and has a higher diagnostic yield compared to limited BRCA1\/2 analysis alone in patients at risk for hereditary breast cancer","volume":"22","author":"Kapoor","year":"2015","journal-title":"Ann. 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