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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52 HBOC
53 MPLA
54 MethodsPaired blood
55 NGS testing
56 OS
57 OS outcomes
58 PFS
59 PV carriers
60 PV testing
61 PurposeBRCA1/2
62 TNBC
63 TNBC patients
64 Tumor BRCA1/2 PV carriers
65 age
66 analysis
67 blood
68 blood DNA
69 breast cancer patients
70 breast carcinoma
71 burden
72 cancer patients
73 carcinoma
74 carriers
75 characteristics
76 clinical scenarios
77 clinicopathological characteristics
78 correlation
79 data
80 deletion
81 diagnosis
82 differences
83 economic burden
84 entire frequency
85 evidence
86 family history
87 frequency
88 further evidence
89 genomic rearrangements
90 germline
91 germline BRCA1/2
92 high incidence
93 history
94 impact
95 improved survival outcomes
96 improvement
97 incidence
98 insertions/deletions
99 large genomic rearrangements
100 mutation status
101 outcomes
102 pathogenic variants
103 patients
104 prevalence
105 prevalence of germline
106 rearrangement
107 results
108 scenarios
109 significant correlation
110 significant differences
111 significant impact
112 significant improvement
113 single-nucleotide variant/insertion/deletions
114 somatic BRCA1/2 single-nucleotide variant/insertion/deletions
115 specific clinical scenarios
116 status
117 survival outcomes
118 testing
119 triple-negative breast cancer patients
120 triple-negative breast carcinomas
121 tumor BRCA1/2 PV
122 tumor DNA
123 unselected Chinese TNBC patients
124 variant/insertion/deletions
125 variants
126 years
127 younger age
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