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The genomic background of PABC has only recently been addressed while the underlying mechanisms of the disease still remain unknown. This analysis aims to further elucidate the frequency of PABC cases attributable to genetic predisposition and identify specific cancer susceptibility genes characterizing PABC.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>A comprehensive 94-cancer gene panel was implemented in a cohort of 20 PABC patients treated in our clinic and descriptive correlation was performed among the results and the patients\u2019 clinicopathological data.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In the present study, 35% of PABC patients tested carried pathogenic mutations in two known cancer predisposition genes (<jats:italic>BRCA1<\/jats:italic> and <jats:italic>CHEK2<\/jats:italic>). In total, 30% of the patients carried <jats:italic>BRCA1<\/jats:italic> pathogenic variants. An additional 5% carried pathogenic variants in the <jats:italic>CHEK2<\/jats:italic> gene. Variants of unknown\/uncertain significance (VUS) in breast cancer susceptibility genes <jats:italic>BRCA2, CHEK2<\/jats:italic> and <jats:italic>BRIP1<\/jats:italic> were also identified in three different PABC patients (15%). Not all patients carrying germline mutations reported known family history of cancer.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Genetic testing should be considered as an option for PABC patients since the disease is highly associated with genetic susceptibility among other predisposing factors. Germline mutation identification may further modify PABC management approach and improve the prognostic outcome.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12885-021-08310-9","type":"journal-article","created":{"date-parts":[[2021,5,19]],"date-time":"2021-05-19T07:03:00Z","timestamp":1621407780000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Germline mutations in a clinic-based series of pregnancy associated breast cancer patients"],"prefix":"10.1186","volume":"21","author":[{"given":"Eleni","family":"Zografos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Maria","family":"Korakiti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angeliki","family":"Andrikopoulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis","family":"Rellias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantine","family":"Dimitrakakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Spyridon","family":"Marinopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aris","family":"Giannos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonios","family":"Keramopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaos","family":"Bredakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meletios-Athanasios","family":"Dimopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flora","family":"Zagouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,5,19]]},"reference":[{"issue":"3","key":"8310_CR1","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1097\/IGC.0000000000000904","volume":"27","author":"F Parazzini","year":"2017","unstructured":"Parazzini F, Franchi M, Tavani A, Negri E, Peccatori FA. 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MAD has received honoraria from participation in advisory boards from Amgen, Bristol-Myers-Squibb, Celgene, Janssen, Takeda. The remaining authors (EZ, AMK, AA, IR, CD, SM, AG, AK, and NB) declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as potential conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"572"}}