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Open AccessArticle

Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers

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Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy
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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
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Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy
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Department of Oncology, Arcispedale S. Maria Nuova IRCCS, 42123 Reggio Emilia, Italy
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Hospital Psychology Service, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy
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Obstetrics and Gynecology Unit, Department of Obstetrics, Gynecology and Pediatrics, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy
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Department of Biomedical, Metabolic and Neural Sciences, International Doctorate School in Clinical and Experimental Medicine, University of Modena and Reggio Emilia, 41124 Modena, Italy
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Division of Breast Surgical Oncology, Department of Medical and Surgical, Maternal-Infantile and Adult Sciences, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy
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Diagnostic Hematology and Clinical Genomics Unit, Department of Laboratory Medicine and Pathology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy
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Center for Genome Research, University of Modena and Reggio Emilia, 41124 Modena, Italy
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Author to whom correspondence should be addressed.
Academic Editor: Carmen Criscitiello
Genes 2021, 12(5), 616; https://doi.org/10.3390/genes12050616
Received: 4 April 2021 / Revised: 15 April 2021 / Accepted: 20 April 2021 / Published: 21 April 2021
(This article belongs to the Special Issue Breast Cancer Genetics: Diagnostic and Treatment)
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. View Full-Text
Keywords: breast cancer; ATM; CHEK2; genetic testing; bilateral tumor; mastectomy breast cancer; ATM; CHEK2; genetic testing; bilateral tumor; mastectomy
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MDPI and ACS Style

Toss, A.; Tenedini, E.; Piombino, C.; Venturelli, M.; Marchi, I.; Gasparini, E.; Barbieri, E.; Razzaboni, E.; Domati, F.; Caggia, F.; Grandi, G.; Combi, F.; Tazzioli, G.; Dominici, M.; Tagliafico, E.; Cortesi, L. Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers. Genes 2021, 12, 616. https://doi.org/10.3390/genes12050616

AMA Style

Toss A, Tenedini E, Piombino C, Venturelli M, Marchi I, Gasparini E, Barbieri E, Razzaboni E, Domati F, Caggia F, Grandi G, Combi F, Tazzioli G, Dominici M, Tagliafico E, Cortesi L. Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers. Genes. 2021; 12(5):616. https://doi.org/10.3390/genes12050616

Chicago/Turabian Style

Toss, Angela; Tenedini, Elena; Piombino, Claudia; Venturelli, Marta; Marchi, Isabella; Gasparini, Elisa; Barbieri, Elena; Razzaboni, Elisabetta; Domati, Federica; Caggia, Federica; Grandi, Giovanni; Combi, Francesca; Tazzioli, Giovanni; Dominici, Massimo; Tagliafico, Enrico; Cortesi, Laura. 2021. "Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers" Genes 12, no. 5: 616. https://doi.org/10.3390/genes12050616

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