{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T13:47:22Z","timestamp":1785851242938,"version":"3.56.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:00:00Z","timestamp":1785801600000},"content-version":"vor","delay-in-days":82,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/501100016014","name":"Fondo de Innovaci\u00f3n para la Competitividad","doi-asserted-by":"publisher","award":["FRPD Atacama 2024 BIP 40070972"],"award-info":[{"award-number":["FRPD Atacama 2024 BIP 40070972"]}],"id":[{"id":"10.13039\/501100016014","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020884","name":"Agencia Nacional de Investigaci\u00f3n y Desarrollo","doi-asserted-by":"publisher","award":["SIA ANID 2023 85220068"],"award-info":[{"award-number":["SIA ANID 2023 85220068"]}],"id":[{"id":"10.13039\/501100020884","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002850","name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["FONDECYT iniciaci\u00f3n 2024 11240411"],"award-info":[{"award-number":["FONDECYT iniciaci\u00f3n 2024 11240411"]}],"id":[{"id":"10.13039\/501100002850","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genomics"],"DOI":"10.1186\/s40246-026-00983-2","type":"journal-article","created":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T05:34:38Z","timestamp":1778736878000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Broad germline variant spectrum revealed by whole-exome sequencing in an underrepresented Latin American population with hereditary breast cancer"],"prefix":"10.1186","volume":"20","author":[{"given":"Sarai","family":"Morales-Gonz\u00e1lez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Fern\u00e1ndez-Ramires","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo Carlos Bolzon","family":"Gonzalez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro E.","family":"Sep\u00falveda-Perez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio A.","family":"Silva-Mundaca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Seccia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinicius F.","family":"Campos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo Roberto Ferreira","family":"J\u00fanior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mateus Jos\u00e9","family":"Dutra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Salas-Burgos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilherme","family":"Gischkow-Rucatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebasti\u00e1n","family":"Morales-Pison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,14]]},"reference":[{"key":"983_CR1","first-page":"161","volume":"73","author":"H Sung","year":"2023","unstructured":"Sung H, et al. Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2023;73:161\u201390.","journal-title":"CA Cancer J Clin"},{"key":"983_CR2","first-page":"364","volume":"115","author":"N Mavaddat","year":"2023","unstructured":"Mavaddat N, et al. Breast cancer risk prediction using polygenic risk scores and classical risk factors. J Natl Cancer Inst. 2023;115:364\u201378.","journal-title":"J Natl Cancer Inst"},{"key":"983_CR3","first-page":"534","volume":"96","author":"DF Easton","year":"2015","unstructured":"Easton DF, et al. Gene-panel sequencing and the prediction of breast-cancer risk. Am J Hum Genet. 2015;96:534\u201344.","journal-title":"Am J Hum Genet"},{"key":"983_CR4","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1056\/NEJMoa1913948","volume":"384","author":"L Dorling","year":"2021","unstructured":"Dorling L, et al. Breast cancer risk genes \u2013 association analysis in more than 113,000 women. N Engl J Med. 2021;384:428\u201339.","journal-title":"N Engl J Med"},{"key":"983_CR5","doi-asserted-by":"publisher","first-page":"1460","DOI":"10.1200\/JCO.2015.65.0747","volume":"34","author":"N Tung","year":"2016","unstructured":"Tung N, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing. J Clin Oncol. 2016;34:1460\u20138.","journal-title":"J Clin Oncol"},{"key":"983_CR6","first-page":"543","volume":"175","author":"T Pal","year":"2019","unstructured":"Pal T, et al. Germline pathogenic variants in patients with breast cancer. Breast Cancer Res Treat. 2019;175:543\u201352.","journal-title":"Breast Cancer Res Treat"},{"key":"983_CR7","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1038\/nrg.2016.49","volume":"17","author":"S Petrovski","year":"2016","unstructured":"Petrovski S, Goldstein DB. Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. Nat Rev Genet. 2016;17:333\u201346.","journal-title":"Nat Rev Genet"},{"key":"983_CR8","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, et al. The mutational constraint spectrum quantified from variation in 141,546 humans. Nature. 2020;581:434\u201343.","journal-title":"Nature"},{"key":"983_CR9","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1056\/NEJMsa1507092","volume":"375","author":"AK Manrai","year":"2016","unstructured":"Manrai AK, et al. Genetic misdiagnoses and the potential for health disparities. N Engl J Med. 2016;375:655\u201365.","journal-title":"N Engl J Med"},{"key":"983_CR10","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285\u201391.","journal-title":"Nature"},{"key":"983_CR11","first-page":"1530","volume":"22","author":"AN Abou Tayoun","year":"2020","unstructured":"Abou Tayoun AN, et al. Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion. Genet Med. 2020;22:1530\u201340.","journal-title":"Genet Med"},{"key":"983_CR12","first-page":"76","volume":"8","author":"JA Karolak","year":"2023","unstructured":"Karolak JA, et al. Population-specific patterns of pathogenic variation in hereditary cancer genes. npj Genomic Med. 2023;8:76.","journal-title":"npj Genomic Med"},{"key":"983_CR13","doi-asserted-by":"crossref","first-page":"823","DOI":"10.3390\/cancers13040823","volume":"13","author":"F Vaca-Paniagua","year":"2021","unstructured":"Vaca-Paniagua F, et al. Germline pathogenic variants in hereditary breast cancer patients from Latin America. Cancers. 2021;13:823.","journal-title":"Cancers"},{"key":"983_CR14","first-page":"e640","volume":"20","author":"F Aguilar","year":"2020","unstructured":"Aguilar F, et al. Germline variants in hereditary breast cancer in a Chilean cohort. Clin Breast Cancer. 2020;20:e640\u20137.","journal-title":"Clin Breast Cancer"},{"key":"983_CR15","doi-asserted-by":"crossref","first-page":"e0184734","DOI":"10.1371\/journal.pone.0180532","volume":"12","author":"L Jara","year":"2017","unstructured":"Jara L, et al. Mutation profile of BRCA1 and BRCA2 in Chilean families with breast and ovarian cancer. PLoS ONE. 2017;12:e0184734.","journal-title":"PLoS ONE"},{"key":"983_CR16","first-page":"287","volume":"20","author":"C Alvarez","year":"2021","unstructured":"Alvarez C, et al. Germline pathogenic variants in hereditary breast cancer in Chile. Fam Cancer. 2021;20:287\u201396.","journal-title":"Fam Cancer"},{"key":"983_CR17","first-page":"1120485","volume":"13","author":"B Rebolledo-Jaramillo","year":"2023","unstructured":"Rebolledo-Jaramillo B, et al. Germline cancer predisposition variants in Latin American populations. Front Oncol. 2023;13:1120485.","journal-title":"Front Oncol"},{"key":"983_CR18","doi-asserted-by":"crossref","first-page":"12356","DOI":"10.1038\/srep12356","volume":"5","author":"S Eyheramendy","year":"2015","unstructured":"Eyheramendy S, et al. Genetic structure and ancestry of the Chilean population. Sci Rep. 2015;5:12356.","journal-title":"Sci Rep"},{"key":"983_CR19","unstructured":"National Comprehensive Cancer Network. (2026). Guideline Name (Version 3.2026). https:\/\/www.nccn.org"},{"key":"983_CR20","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1093\/bioinformatics\/btq033","volume":"26","author":"AR Quinlan","year":"2010","unstructured":"Quinlan AR, Hall IM. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics. 2010;26:841\u20132.","journal-title":"Bioinformatics"},{"key":"983_CR21","doi-asserted-by":"publisher","first-page":"i884","DOI":"10.1093\/bioinformatics\/bty560","volume":"34","author":"S Chen","year":"2018","unstructured":"Chen S, et al. fastp: an ultra-fast all-in-one FASTQ preprocessor. Bioinformatics. 2018;34:i884\u201390.","journal-title":"Bioinformatics"},{"key":"983_CR22","unstructured":"Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv. 2013. arXiv:1303.3997."},{"key":"983_CR23","doi-asserted-by":"crossref","first-page":"D682","DOI":"10.1093\/nar\/gkz1138","volume":"48","author":"AD Yates","year":"2020","unstructured":"Yates AD, et al. Ensembl 2020. Nucleic Acids Res. 2020;48:D682\u2013688.","journal-title":"Nucleic Acids Res"},{"key":"983_CR24","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","volume":"22","author":"RE Riggs","year":"2020","unstructured":"Riggs RE, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020;22:245\u201357.","journal-title":"Genet Med"},{"key":"983_CR25","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1093\/bib\/bbs017","volume":"14","author":"H Thorvaldsdottir","year":"2013","unstructured":"Thorvaldsdottir H, Robinson JT, Mesirov JP. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform. 2013;14:178\u201392.","journal-title":"Brief Bioinform"},{"key":"983_CR26","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, et al. Standards and guidelines for the interpretation of sequence variants. Genet Med. 2015;17:405\u201324.","journal-title":"Genet Med"},{"key":"983_CR27","first-page":"509","volume":"23","author":"A Garret","year":"2021","unstructured":"Garret A, et al. Cancer Variant Interpretation Group UK (CanVIG-UK): Consensus specification for the interpretation of germline variants in cancer susceptibility genes. Genet Med. 2021;23:509\u201317.","journal-title":"Genet Med"},{"key":"983_CR28","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1001\/jama.2010.1227","volume":"304","author":"T Walsh","year":"2010","unstructured":"Walsh T, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. JAMA. 2010;304:953\u201361.","journal-title":"JAMA"},{"key":"983_CR29","doi-asserted-by":"crossref","first-page":"4071","DOI":"10.1200\/JCO.2016.67.0554","volume":"34","author":"KN Maxwell","year":"2016","unstructured":"Maxwell KN, et al. Evaluation of ACMG-guidelines-based variant classification of cancer susceptibility and non-cancer-associated genes in families affected by breast cancer. J Clin Oncol. 2016;34:4071\u20138.","journal-title":"J Clin Oncol"},{"key":"983_CR30","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1038\/538161a","volume":"538","author":"AB Popejoy","year":"2016","unstructured":"Popejoy AB, Fullerton SM. Genomics is falling on diversity. Nature. 2016;538:161\u20134.","journal-title":"Nature"}],"container-title":["Human Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40246-026-00983-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40246-026-00983-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40246-026-00983-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T13:04:41Z","timestamp":1785848681000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s40246-026-00983-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,14]]},"references-count":30,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["983"],"URL":"https:\/\/doi.org\/10.1186\/s40246-026-00983-2","relation":{},"ISSN":["1479-7364"],"issn-type":[{"value":"1479-7364","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,14]]},"assertion":[{"value":"3 February 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 May 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 May 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was conducted in accordance with the Helsinki Declaration and was approved by the Institutional Scientific Ethics Committee of Universidad Mayor (approval code: 0367:561\/2023). All participants provided written informed consent prior to blood sample collection and genetic analysis.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"120"}}