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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한병리학회 Journal of Pathology and Translational Medicine Journal of Pathology and Translational Medicine 제56권 제4호
- 발행연도
- 2022.7
- 수록면
- 212 - 216 (5page)
- DOI
- 10.4132/jptm.2022.05.02
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초록· 키워드
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Background: Founder mutation is a heritable genetic alteration observed with high frequency in a geographically and culturally isolated population where one or more ancestors becomes the forebearer of the altered gene. The current study reports two founder mutations in the <i>BRCA1</i> gene in the Nepalese people.Methods: Germline <i>BRCA</i> testing in all surface epithelial ovarian cancers and the selected case of breast, prostate, and pancreatic cancers has been the standard practice from 2016 to 2021. One thousand one hundred thirtythree probands were screened for germline <i>BRCA</i> variants by next generation sequencing. The variants were classified as per the American Society of Medical Genetics and Genomics recommendations. Pathogenic (class V) and likely pathogenic (class IV) were considered clinically relevant and utilized for cascade screening.Results: Nepalese population made up a subcohort of 5.12% (58/1,133) of probands tested for germline <i>BRCA1/2</i> variants. Twenty-seven of these 58 tested harbored pathogenic genetic alterations in <i>BRCA1/2</i> genes, with 23 being <i>BRCA1</i> mutant. Sixteen of 23 <i>BRCA1</i> mutant cases shared one common pathogenic mutation c.2214_2215insT (p.Lys739Ter) (NM_007294.4). Additionally, a second highly recurrent mutation in <i>BRCA1</i> gene c.5068A>T (p.Lys1690Ter) (NM_007294.4) was noted in six patients from this population.Conclusions: The overwhelming abundance of the above two variants in a geographically confined population confers these two genetic alterations a status of founder mutations amongst the people of Nepal. A more extensive population-based study to reaffirm these findings will help establish a dual site-specific germline testing similar to the “Multisite-3-assay” in Ashkenazi Jews as the primary screening tool, especially in a resource-constrained environment.
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