{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T19:49:05Z","timestamp":1761767345885,"version":"3.41.2"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T00:00:00Z","timestamp":1723248000000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>In this article, we delineate a loosely selected cohort comprising patients with a history of early\u2010onset breast cancer and\/or a familial occurrence of cancer. The aim of this study was to gain insights into the presence of breast cancer\u2010related gene variants in a population from a micro\u2010region in southern Brazil, specifically the Metropolitan Region of Curitiba. This area exhibits a highly genetically mixed population, mirroring the general characteristics of the Brazilian people.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Comprehensive next\u2010generation sequencing (NGS) multigene panel testing was conducted on 12 patients from the region, utilizing three different library preparation methods.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two pathogenic variants and one candidate pathogenic variant were identified: <jats:italic>BRCA2<\/jats:italic> c.8878C&gt;T, p.Gln2960Ter; <jats:italic>CHEK2<\/jats:italic> c.1100del, p.Thr367Metfs15, and <jats:italic>BRCA2<\/jats:italic> c.3482dup, p.Asp1161Glufs3.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>BRCA2<\/jats:italic> c.3482dup, a novel candidate pathogenic variant, previously unpublished, is reported. The prevalence of pathogenic variants in this small cohort is similar to that described in the literature. All different library preparation methods were equally proficient in enabling the detection of these variants.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2504","type":"journal-article","created":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T07:39:58Z","timestamp":1723275598000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hereditary breast cancer next\u2010generation sequencing panel evaluation in the south region of Brazil: A novel <i>BRCA2<\/i> candidate pathogenic variant is reported"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-8864-3357","authenticated-orcid":false,"given":"Cesar Augusto B.","family":"Duarte","sequence":"first","affiliation":[{"name":"Research and Development Division Genoprimer Diagn\u00f3stico Molecular  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos Alberto","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Molecular Biology Clinical Laboratory Clinimol Diagn\u00f3stico Molecular  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristine Domingues D.","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Molecular Biology Clinical Laboratory Clinimol Diagn\u00f3stico Molecular  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cleverton C\u00e9sar","family":"Spautz","sequence":"additional","affiliation":[{"name":"Department of Surgery Hospital Nossa Senhora das Gra\u00e7as  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Masami","family":"Sumita","sequence":"additional","affiliation":[{"name":"Molecular Biology Clinical Laboratory Clinimol Diagn\u00f3stico Molecular  S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sueli Massumi","family":"Nakatani","sequence":"additional","affiliation":[{"name":"Research and Development Division Genoprimer Diagn\u00f3stico Molecular  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,8,10]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1200\/JGO.19.00170"},{"key":"e_1_2_9_3_1","unstructured":"Agilent. 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