{"doi":"10.20944/preprints202008.0718.v1","title":"Clinically Relevant Germline Mutations in a Cohort of Young Women with Breast Cancer: A Comprehensive Analysis of Hereditary-Cancer Genes from Whole-Exome Sequencing","abstract":"Young women with breast cancer represent 15% of cancer cases in Latin America. Genomic studies have found that early-onset breast-cancer cases exhibit a higher genetic susceptibility and a specific genomic signature as compared to their older counterparts. The aim of this study was to describe clinically relevant germline mutations in a cohort of young women with breast cancer. To achieve this, we analyzed hereditary-cancer genes from whole-exome sequencing data in 108 unrelated women with an extreme phenotype of breast cancer (≤40 years of age), diagnosed and treated at the National Cancer Institute of Mexico; 11% of the patients carried a pathogenic variant. BRCA2 comprised 46% of the mutations, followed by BRCA1 with 23%; PALB2 with 15%; and TP53 and RAD51C with 8 % each. This article describes a novel pathogenic mutation in RAD51C c.519dupT. The median age at diagnosis was 35 years overall; however, it was six years younger in patients with mutations. Age at diagnosis (OR=0.82, CI 95% 0.71-0.94; P= 0.008) and first-degree family history of cancer (OR=8.26, CI95% 1.35-50; P= 0.022) were the only epidemiological variables associated with mutational status. We found no differences in disease-free survival (p=0.403) or overall survival (p=0.735) among mutational status subgroups.","journal":"Preprints.org","year":2020,"id":123999,"datarank":0.20794415416798362,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"self_citation_contribution":0.20794415416798362,"citation_network_contribution":0.0,"self_endowment_contribution":0.20794415416798362,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8991,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":291441,"name":"Michael Dean","orcid":"0000-0003-2234-0631","position":1,"is_corresponding":false},{"id":264023,"name":"Kristine Jones","orcid":"0000-0003-1584-8920","position":2,"is_corresponding":false},{"id":264022,"name":"Mingyi Wang","orcid":"0000-0001-9419-4384","position":3,"is_corresponding":false},{"id":392033,"name":"Cynthia Villarreal‐Garza","orcid":"0000-0003-3587-339X","position":4,"is_corresponding":false},{"id":567712,"name":"Rosa María Álvarez-Gómez","orcid":"0000-0002-5458-7201","position":5,"is_corresponding":false},{"id":54403,"name":"Talía Wegman-Ostrosky","orcid":"0000-0002-3207-6697","position":6,"is_corresponding":false},{"id":567713,"name":"Nancy Reynoso‐Noverón","orcid":"0000-0002-7784-2287","position":7,"is_corresponding":false},{"id":567714,"name":"Verónica Fragoso‐Ontiveros","orcid":"0000-0001-6098-197X","position":8,"is_corresponding":false},{"id":567715,"name":"Luisa María Sánchez-Zamorano","orcid":"0000-0002-4871-3945","position":9,"is_corresponding":false},{"id":568192,"name":"Miguel Trujillo-Martínez","orcid":null,"position":10,"is_corresponding":false},{"id":567716,"name":"Lizbeth Grimaldo","orcid":"0000-0003-0410-4192","position":11,"is_corresponding":false},{"id":501346,"name":"Martha Patricia Gallegos‐Arreola","orcid":"0000-0003-4539-1693","position":12,"is_corresponding":false},{"id":567717,"name":"Patricia Ostrosky‐Wegman","orcid":"0000-0002-8564-3472","position":13,"is_corresponding":false},{"id":433535,"name":"Alejandro Mohar","orcid":"0000-0002-4730-4787","position":14,"is_corresponding":false},{"id":567711,"name":"Liliana Gómez‐Flores‐Ramos","orcid":"0000-0002-4617-639X","position":0,"is_corresponding":true}],"reference_count":35,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-18T23:15:03.403566Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}