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Founder BRCA1 mutations in Nepalese population.

Anurag Mehta1, Himanshi Diwan1, Garima Gupta2

  • 1Department of Laboratory, Molecular and Transfusion Services, Rajiv Gandhi Cancer Institute and Research Centre (RGCIRC), New Delhi, India.

Journal of Pathology and Translational Medicine
|June 14, 2022
PubMed
Summary
This summary is machine-generated.

Two founder mutations in the BRCA1 gene were identified in the Nepalese population. These specific genetic alterations, c.2214_2215insT and c.5068A>T, are prevalent and may warrant targeted screening.

Keywords:
BRCA1BRCA2Founder mutationNepal

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Area of Science:

  • Genetics
  • Oncology
  • Population Health

Background:

  • Founder mutations are heritable genetic alterations common in isolated populations.
  • The Nepalese population, geographically and culturally distinct, was investigated for specific genetic predispositions.
  • This study focuses on identifying founder mutations within the BRCA1 gene among Nepalese individuals.

Purpose of the Study:

  • To identify and characterize founder mutations in the BRCA1 gene within the Nepalese population.
  • To assess the frequency of specific BRCA1 mutations in Nepalese cancer patients.
  • To explore the potential for targeted genetic screening in this population.

Main Methods:

  • Germline BRCA testing was performed on 1,133 probands from 2016 to 2021, including ovarian, breast, prostate, and pancreatic cancer cases.
  • Next-generation sequencing was employed to screen for germline BRCA variants.
  • Variants were classified according to American Society of Medical Genetics and Genomics guidelines, with pathogenic and likely pathogenic variants considered clinically relevant.

Main Results:

  • The Nepalese subcohort comprised 5.12% (58/1,133) of probands tested.
  • Twenty-seven individuals harbored pathogenic BRCA1/2 alterations, with 23 having BRCA1 mutations.
  • Two recurrent BRCA1 mutations, c.2214_2215insT (p.Lys739Ter) and c.5068A>T (p.Lys1690Ter), were identified in 16 and 6 patients, respectively.

Conclusions:

  • The high frequency of two specific BRCA1 mutations in the Nepalese population suggests they are founder mutations.
  • Further population-based studies are recommended to confirm these findings.
  • Establishing dual site-specific germline testing, similar to the Ashkenazi Jewish model, could be a valuable primary screening tool for Nepal, particularly in resource-limited settings.