Articles Vol. 63 No. chuyên đề 3-HN Sản Nhi Nghệ An (2022) 30/11/2022

BRCA1/2 MUTATIONS IN PATIENTS WITH HEREDITARY BREAST - OVARIAN CANCER SYNDROME

Le Nguyen Trong Nhan1,2, Nguyen Thi Thu Thuy3,4, Nguyen Quy Linh3,4, Tran Van Khanh3,4, Tran Huy Thinh3,4, Ta Thanh Van3,4, Nguyen Viet Tien3,4
1 Ca Mau Hospital of Obstetrics and Pediatrics
2 Bệnh viện Sản Nhi Cà Mau
3 Hanoi Medical University
4 Trường Đại học Y Hà Nội
Corresponding author: idoctor.spb@gmail.com
DOI: 10.52163/yhc.v63i8.519
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Keywords
BRCA1; BRCA2; UT vú và buồng trứng di truyền.
Abstract

Individuals with BRCA1/2 gene mutations are at increased risk of breast and ovarian cancer.
The prevalence of BRCA1/2 mutations varies by race and ethnicity. The prevalence and the risks
associated with most BRCA1/2 mutations has not been unknown in the Vietnamese population. We
herein screen the entire BRCA1 and BRCA2 genes for breast and ovarian cancer patients with
Hereditary Breast - Ovarian Cancer Syndrome (HBOC), thereby, suggesting personalized
evaluation risk of mutation carrier, breast and ovarian cancer and personalized plan of cancers
screening and prevention.
Objects: 33 patients who had a pathological diagnosis of breast and/or ovarian cancer with
HBOC syndrome.
Methods: Cross-sectional descriptive. Blood samples of 33 patients were collected and
analyzed using Next Generation Sequencing. The identified mutations were tested by Sanger
sequencing. Identification of mutations in the family members of patients carrying the mutation.
Results: Eleven types of mutations in both BRCA1 (in nine patients) and BRCA2 (in three
patients) were detected, one of which (BRCA2:p.Ser1341Ter) is novel, unpublished. Seven out of
19 patient’s relatives had BRCA1/2 gene mutations. All patients were counselled about the
likelihood of cancer rising and prophylactic screening and procedures. Conclusions: Our findings
suggested the implications for the planning of a screening programme for BRCA1 and BRCA2
genes testing in breast and ovarian cancer patients and genetic screening in their relatives.

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