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May 24, 2026Asian Pacific Journal of Cancer PreventionOpen Access

Functional analysis of a splicing variant of the DOCK8 gene in a patient with breast cancer (Buryat ethnicity)

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Authors

PGPolina GervasRSRamil SalakhovAMA. Molokov

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Overview

Randomized trial finds new breast cancer variants in the Buryat ethnicity, suggesting hereditary connections.

Key Points

  • This research aims to identify new hereditary breast cancer variants in the Buryat ethnic group using whole exome sequencing (WES) data.
  • Analyzed DNA from a 52-year-old Buryat breast cancer patient with a family history of the disease.
  • Employed the OpenCRAVAT mutation impact scoring algorithm for variant identification from WES data.
  • Conducted validation using DNA construct methods for selected variants.
  • No pathogenic variants identified in the subject; however, rare variants of unknown significance were found.
  • The c.986C>T DOCK8 variant may affect splicing, with electrophoresis revealing a PCR product 60 bp shorter than the reference sequence.
  • Combined carriage of the c.A1111G mutation in FANCI and c.986C>T in DOCK8 may increase breast cancer risk.

Cite This Study

Gervas et al. (2026) studied this question.

synapsesocial.com/papers/6a1295bf48a0ea1665671f67https://doi.org/10.31557/apjcp.2026.27.5.1559
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Also Consider

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  1. 1Unexpected High Frequency of Novel and Known Pathogenic Germline Variant of the Lgr4 Gene in the Ethnic Group of West Siberia2024
  2. 2Whole Exome Sequencing Revealed Rare Variants in BRCA2, RAD51D, FANGC, CYP24A1 Genes in Breast/Ovarian Cancer Patients from a Small Buryat Ethnic Group2026 · 1 citations
  3. 3Genetic Variants Associated with Breast Cancer Are Detected by Whole-Exome Sequencing in Vietnamese Patients2025
  4. 4406eP Multiple germline pathogenic or likely pathogenic variants in a cohort of breast cancer patients2026
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