# Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing

Source: https://onco.cc/key-papers/paper-sharma-tnbc-registry-germline-brca-bcrt-2014/  
OnCo record `paper-sharma-tnbc-registry-germline-brca-bcrt-2014` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Fields

- Kind: Key paper
- Last checked: 2026-09-24
- Journal: Breast Cancer Research and Treatment
- Year: 2014
- DOI: 10.1007/s10549-014-2980-0
- Authors: Sharma P, Klemp JR, Kimler BF, et al.
- 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.
- What it means: 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.

## Sources

- Sharma et al., Breast Cancer Res Treat 2014: germline BRCA in a prospective registry of 207 TNBC patients: https://doi.org/10.1007/s10549-014-2980-0
- PubMed: https://pubmed.ncbi.nlm.nih.gov/24807107/

## Connected records

- cancers: [Triple-negative breast cancer (TNBC)](https://onco.cc/cancers/tnbc/)
- technologies: [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/)
- targets: [BRCA1 / BRCA2 (HRD)](https://onco.cc/targets/brca/)
- terms: [Germline BRCA mutation (gBRCA)](https://onco.cc/terms/gbrca-mutation/)
- people: [Priyanka Sharma](https://onco.cc/people/priyanka-sharma/)
- journals: [Breast cancer research and treatment](https://onco.cc/journals/breast-cancer-research-and-treatment/)
- biomarkers: [Germline BRCA1/2 pathogenic variant (gBRCAm)](https://onco.cc/biomarkers/brca-germline/)

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