{"entity":{"id":"paper-sharma-tnbc-registry-germline-brca-bcrt-2014","kind":"paper","name":"Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing","aka":[],"tldr":"Every one of 207 women with triple-negative breast cancer in a Kansas registry was tested for BRCA mutations: 15.4% carried one, and the guideline rule of testing all TNBC patients aged 60 or under found every carrier.","summary":"Stage I to IV TNBC patients enrolled in a prospective registry at academic and community practices between 2011 and 2013 (207; 80% Caucasian, 14% African American, 1% Ashkenazi) all underwent BRCA1/2 testing. Deleterious mutations were found in 15.4% (BRCA1 11.1%, BRCA2 4.3%). Prevalence was 31.6% with and 6.1% without a significant family history, and 27.6% at 50 or under, 11.4% at 51 to 60 and 4.9% at 61 or over. Using family history or age 50 or under alone would have missed 25% and 34% of carriers; the NCCN criteria of the time (all TNBC at 60 or under) identified 18.3% (32 of 175) and no carrier among the 32 patients outside them.","asOf":"2026-09-24","links":[{"label":"Sharma et al., Breast Cancer Res Treat 2014: germline BRCA in a prospective registry of 207 TNBC patients","url":"https://doi.org/10.1007/s10549-014-2980-0"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/24807107/"}],"tags":[],"related":[],"cancers":["tnbc"],"sections":[],"technologies":["germline-testing"],"targets":["brca"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["gbrca-mutation"],"trials":[],"people":["priyanka-sharma"],"bottlenecks":[],"keyPapers":[],"journals":["breast-cancer-research-and-treatment"],"dependsOn":[],"notes":[],"journal":"Breast Cancer Research and Treatment","year":2014,"doi":"10.1007/s10549-014-2980-0","pmid":"24807107","authors":"Sharma P, Klemp JR, Kimler BF, et al.","paperType":"observational","findings":["Germline BRCA in 15.4%: BRCA1 11.1%, BRCA2 4.3%.","Prevalence by age: 27.6% at 50 or under, 11.4% at 51 to 60, 4.9% at 61 or over.","Age or family history alone missed a quarter to a third of carriers."],"whatItMeans":"The registry showed that age and family-history filters leak carriers, the argument that carried testing criteria from 'under 60' towards every TNBC diagnosis.","caveats":["207 patients, mostly of European ancestry.","Tested with the criteria of 2013; later guidelines broadened."],"changedPractice":false,"participants":207},"route":"/key-papers/paper-sharma-tnbc-registry-germline-brca-bcrt-2014/","neighbours":{"cancer":[{"id":"tnbc","kind":"cancer","name":"Triple-negative breast cancer (TNBC)","route":"/cancers/tnbc/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"brca","kind":"target","name":"BRCA1 / BRCA2 (HRD)","route":"/targets/brca/"}],"term":[{"id":"gbrca-mutation","kind":"term","name":"Germline BRCA mutation (gBRCA)","route":"/terms/gbrca-mutation/"}],"person":[{"id":"priyanka-sharma","kind":"person","name":"Priyanka Sharma","route":"/people/priyanka-sharma/"}],"journal":[{"id":"breast-cancer-research-and-treatment","kind":"journal","name":"Breast cancer research and treatment","route":"/journals/breast-cancer-research-and-treatment/"}],"biomarker":[{"id":"brca-germline","kind":"biomarker","name":"Germline BRCA1/2 pathogenic variant (gBRCAm)","route":"/biomarkers/brca-germline/"}]}}