http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
- 中文 을 입력하시려면 zhongwen을 입력하시고 space를누르시면됩니다.
- 北京 을 입력하시려면 beijing을 입력하시고 space를 누르시면 됩니다.
RISS 인기검색어
- 검색키워드
- 저자 : Surender Dhanda (검색결과 1 건)
- 무료
- 기관 내 무료
- 유료
-
Founder <i>BRCA1</i> mutations in Nepalese population
Anurag Mehta,Himanshi Diwan,Garima Gupta,Shrinidhi Nathany,Shalini Agnihotri,Surender Dhanda 대한병리학회 2022 Journal of Pathology and Translational Medicine Vol.56 No.4
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.
연관 검색어 추천
이 검색어로 많이 본 자료
활용도 높은 자료
