Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-07-13

AUTHORS

Gang Ji, Longlong Bao, Qianlan Yao, Jing Zhang, Xiaoli Zhu, Qianming Bai, Zhiming Shao, Wentao Yang, Xiaoyan Zhou

ABSTRACT

PurposeBRCA1/2 screening for all triple-negative breast cancer (TNBC) patients younger than 60 years may still be an economic burden in China. Further evidences that include incidence and outcome of BRCA1/2 pathogenic variants (PV) screened based on younger age or family history (FH) are worth discussing for improving the cost-effectiveness of BRCA1/2 testing in Chinese TNBC. We aimed to investigate the prevalence of germline and tumor BRCA1/2 PV based on age screening in Chinese TNBC patients.MethodsPaired blood and tumor DNA from 124 unselected Chinese TNBC patients with less than or equal to 55 years were collected and analyzed for BRCA1/2 PV. Clinicopathological characteristics including age at diagnosis, FH and follow-up data were collected for further analysis.ResultsThe entire frequency of germline and tumor BRCA1/2 PV was 21.0 and 25%, respectively. Among them, 20 (16.1%) germline and 5 (4.0%) somatic BRCA1/2 single-nucleotide variant/insertion/deletions were found by NGS testing, 6 (4.8%) BRCA1 large genomic rearrangements were detected in blood DNA by MPLA. There was significant correlation between FH of HBOC and germline BRCA1/2 PVs among these patients. Patients with tumor BRCA1/2 PVs had significant improvements than non-carriers in PFS (p = 0.047). No significant impacts were found between various mutation status in OS outcomes. No significant differences were found between BRCA1 or BRCA2 and non-carriers in PFS or OS.ConclusionThere is a high incidence of germline and tumor BRCA1/2 PVs in Chinese TNBC patients with less than or equal to 55 years old. Tumor BRCA1/2 PV carriers showed an improved survival outcome. Our results suggest that BRCA1/2 PVs testing addressed within each specific clinical scenario could be more cost-effective for patients. More... »

PAGES

2935-2944

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00432-021-03696-2

DOI

http://dx.doi.org/10.1007/s00432-021-03696-2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1139631987

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/34254208


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81 germline
82 germline BRCA1/2
83 high incidence
84 history
85 impact
86 improved survival outcomes
87 improvement
88 incidence
89 insertions/deletions
90 large genomic rearrangements
91 mutation status
92 outcomes
93 pathogenic variants
94 patients
95 prevalence
96 prevalence of germline
97 rearrangement
98 results
99 scenarios
100 significant correlation
101 significant differences
102 significant impact
103 significant improvement
104 specific clinical scenarios
105 status
106 survival outcomes
107 testing
108 triple-negative breast cancer patients
109 triple-negative breast carcinoma
110 tumor DNA
111 variants
112 years
113 younger age
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