{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T04:21:48Z","timestamp":1764044508541},"reference-count":42,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,7,26]],"date-time":"2016-07-26T00:00:00Z","timestamp":1469491200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Italian Association for Cancer Research (AIRC)"},{"name":"Istituto Toscano Tumori (ITT)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>Triple negative breast cancers (TNBCs) represent about 15\u201320% of all breast cancer cases and are characterized by a complex molecular heterogeneity. Some TNBCs exhibit clinical and pathological properties similar to BRCA\u2010mutated tumors, without actually bearing a mutation in <jats:italic>BRCA<\/jats:italic> genes. This \u201cBRCAness\u201d phenotype may be explained by germline mutations in other genes involved in DNA repair. Although respond to chemotherapy with alkylating agents, they have a high risk of recurrence and progression. Some studies have shown the efficacy of neoadjuvant therapy in TNBC patients with DNA repair defects, but proper biomarkers of DNA repair deficiency are still needed. Here, we investigated if mutations in DNA repair genes may be correlated with anthracyclines\/taxanes neoadjuvant therapy response. DNA from 19 TNBC patients undergoing neoadjuvant therapy were subjected to next generation sequencing of a panel of 24 genes in DNA repair and breast cancer predisposition. In this study, 5 of 19 patients (26%) carried a pathogenic mutation in <jats:italic>BRCA1, PALB2, RAD51C<\/jats:italic> and two patients carried a probable pathogenic missense variant. Moreover, VUS (Variants of Unknown Significance) in other genes, predicted to be deleterious by <jats:italic>in silico<\/jats:italic> tools, were detected in five patients. Germline mutations in DNA repair genes were found to be associated with the group of TNBC patients who responded to therapy. We conclude that a subgroup of TNBC patients have defects in DNA repair genes, other than BRCA1, and such patients respond favourably to neoadjuvant anthracyclines\/taxanes therapy. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22389","type":"journal-article","created":{"date-parts":[[2016,6,22]],"date-time":"2016-06-22T19:24:59Z","timestamp":1466623499000},"page":"915-924","source":"Crossref","is-referenced-by-count":15,"title":["Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients"],"prefix":"10.1002","volume":"55","author":[{"given":"Laura","family":"Spugnesi","sequence":"first","affiliation":[{"name":"Section of Genetic Oncology Department of Laboratory Medicine University Hospital of Pisa Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Gabriele","sequence":"additional","affiliation":[{"name":"Section of Genetic Oncology Department of Laboratory Medicine 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