{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T06:10:06Z","timestamp":1756793406083,"version":"3.44.0"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T00:00:00Z","timestamp":1756771200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006378","name":"Universitas Indonesia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006378","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Bioinform."],"DOI":"10.3389\/fbinf.2025.1620025","type":"journal-article","created":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T05:33:48Z","timestamp":1756791228000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Germline mutation profiling of breast cancer patients using a non-BRCA sequencing panel"],"prefix":"10.3389","volume":"5","author":[{"given":"Sonar Soni","family":"Panigoro","sequence":"first","affiliation":[]},{"given":"Rafika Indah","family":"Paramita","sequence":"additional","affiliation":[]},{"given":"Fadilah","family":"Fadilah","sequence":"additional","affiliation":[]},{"given":"Septelia Inawati","family":"Wanandi","sequence":"additional","affiliation":[]},{"given":"Aisyah Fitriannisa","family":"Prawiningrum","sequence":"additional","affiliation":[]},{"given":"Linda","family":"Erlina","sequence":"additional","affiliation":[]},{"given":"Wahyu Dian","family":"Utari","sequence":"additional","affiliation":[]},{"given":"Ajeng Megawati","family":"Fajrin","sequence":"additional","affiliation":[]}],"member":"1965","published-online":{"date-parts":[[2025,9,2]]},"reference":[{"key":"B1","article-title":"FastQC - a quality control tool for high throughput sequence data","author":"Andrews","year":"2010","journal-title":"Babraham Bioinforma."},{"key":"B2","doi-asserted-by":"publisher","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Trimmomatic: a flexible trimmer for illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics"},{"key":"B3","unstructured":"OncoKB: a precision oncology knowledge base HHS public access\n          \n          \n            \n              Chakravarty\n              D.\n            \n            \n              Gao\n              J.\n            \n            \n              Phillips\n              S. M.\n            \n            \n              Kundra\n              R.\n            \n            \n              Zhang\n              H.\n            \n            \n              Wang\n              J.\n            \n          \n          \n          2017"},{"key":"B4","volume-title":"FBXW7 in breast cancer: mechanism of action and therapeutic potential","author":"Chen","year":"2023"},{"key":"B5","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly. (Austin)."},{"key":"B6","doi-asserted-by":"publisher","first-page":"giab008","DOI":"10.1093\/gigascience\/giab008","article-title":"Twelve years of SAMtools and BCFtools","volume":"10","author":"Danecek","year":"2021","journal-title":"Gigascience"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with burrows-wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"B9","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"B10","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"B11","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1016\/j.neo.2020.07.001","article-title":"Loss of Fbxw7 triggers mammary tumorigenesis associated with E2F\/c-Myc activation and Trp53 mutation","volume":"22","author":"Meyer","year":"2020","journal-title":"Neoplasia (United States)"},{"key":"B12","doi-asserted-by":"publisher","first-page":"4083","DOI":"10.1038\/s41467-018-06581-8","article-title":"Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls","volume":"9","author":"Momozawa","year":"2018","journal-title":"Nat. Commun."},{"key":"B13","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1001\/jamaoncol.2022.0476","article-title":"Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants","volume":"8","author":"Momozawa","year":"2022","journal-title":"JAMA Oncol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"2241","DOI":"10.3390\/diagnostics12092241","article-title":"Targeted sequencing of germline breast cancer susceptibility genes for discovering pathogenic\/likely pathogenic variants in the jakarta population","volume":"12","author":"Panigoro","year":"2022","journal-title":"Diagnostics"},{"key":"B16","doi-asserted-by":"publisher","first-page":"867","DOI":"10.1093\/bioinformatics\/btx699","article-title":"Mosdepth: quick coverage calculation for genomes and exomes","volume":"34","author":"Pedersen","year":"2018","journal-title":"Bioinformatics"},{"key":"B17","doi-asserted-by":"publisher","first-page":"209","DOI":"10.3322\/caac.21660","article-title":"Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries","volume":"71","author":"Sung","year":"2021","journal-title":"CA Cancer J. Clin."},{"key":"B18","doi-asserted-by":"publisher","first-page":"e71711","DOI":"10.1371\/journal.pone.0071711","article-title":"Mutationmapper: a tool to aid the mapping of protein mutation data","volume":"8","author":"Vohra","year":"2013","journal-title":"PLoS One"},{"key":"B19","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1186\/s12885-018-4229-5","article-title":"Germline breast cancer susceptibility gene mutations and breast cancer outcomes","volume":"18","author":"Wang","year":"2018","journal-title":"BMC Cancer"},{"key":"B20","doi-asserted-by":"publisher","first-page":"663419","DOI":"10.3389\/fonc.2021.663419","article-title":"Disease spectrum of breast cancer susceptibility genes","volume":"11","author":"Wang","year":"2021","journal-title":"Front. Oncol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"11266","DOI":"10.3390\/ijms231911266","article-title":"Germline variants in 32 cancer-related genes among 700 Chinese breast cancer patients by next-generation sequencing: a clinic-based, observational study","volume":"23","author":"Yang","year":"2022","journal-title":"Int. J. Mol. Sci."},{"key":"B22","doi-asserted-by":"publisher","first-page":"PR008","DOI":"10.1158\/1535-7163.targ-23-pr008","article-title":"MYTHIC: first-in-human (FIH) biomarker-driven phase I trial of PKMYT1 inhibitor lunresertib (lunre) alone and with ATR inhibitor camonsertib (cam) in solid tumors with CCNE1 amplification or deleterious alterations in FBXW7 or PPP2R1A","volume":"22","author":"Yap","year":"2023","journal-title":"Mol. Cancer Ther."},{"key":"B23","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1186\/s12943-018-0857-2","article-title":"FBXW7: a critical tumor suppressor of human cancers","volume":"17","author":"Yeh","year":"2018","journal-title":"Mol. Cancer"}],"container-title":["Frontiers in Bioinformatics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fbinf.2025.1620025\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T05:33:49Z","timestamp":1756791229000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fbinf.2025.1620025\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,2]]},"references-count":22,"alternative-id":["10.3389\/fbinf.2025.1620025"],"URL":"https:\/\/doi.org\/10.3389\/fbinf.2025.1620025","relation":{},"ISSN":["2673-7647"],"issn-type":[{"value":"2673-7647","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,2]]},"article-number":"1620025"}}