BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea / 부인종양
Journal of Gynecologic Oncology
;
: e90-2018.
Article
in English
| WPRIM
| ID: wpr-718157
ABSTRACT
OBJECTIVE:
We performed small-scale mutation and large genomic rearrangement (LGR) analysis of BRCA1/2 in ovarian cancer patients to determine the prevalence and the characteristics of the mutations.METHODS:
All ovarian cancer patients who visited a single institution between September 2015 and April 2017 were included. Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and long-range polymerase chain reaction (PCR) were performed to comprehensively study BRCA1/2. The genetic risk models BRCAPRO, Myriad, and BOADICEA were used to evaluate the mutation analysis.RESULTS:
In total, 131 patients were enrolled. Of the 131 patients, Sanger sequencing identified 16 different BRCA1/2 small-scale mutations in 20 patients (15.3%). Two novel nonsense mutations were detected in 2 patients with a serous borderline tumor and a large-cell neuroendocrine carcinoma. MLPA analysis of BRCA1/2 in Sanger-negative patients revealed 2 LGRs. The LGRs accounted for 14.3% of all identified BRCA1 mutations, and the prevalence of LGRs identified in this study was 1.8% in 111 Sanger-negative patients. The genetic risk models showed statistically significant differences between mutation carriers and non-carriers. The 2 patients with LGRs had at least one blood relative with breast or ovarian cancer.CONCLUSION:
Twenty-two (16.8%) of the unselected ovarian cancer patients had BRCA1/2 mutations that were detected through comprehensive BRCA1/2 genetic testing. Ovarian cancer patients with Sanger-negative results should be considered for LGR detection if they have one blood relative with breast or ovarian cancer. The detection of more BRCA1/2 mutations in patients is important for efforts to provide targeted therapy to ovarian cancer patients.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Ovarian Neoplasms
/
Ovary
/
Breast
/
Genetic Testing
/
Polymerase Chain Reaction
/
Prevalence
/
Carcinoma, Neuroendocrine
/
Codon, Nonsense
/
Multiplex Polymerase Chain Reaction
/
Korea
Type of study:
Prevalence study
/
Prognostic study
Limits:
Female
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Gynecologic Oncology
Year:
2018
Type:
Article
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