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Comprehensive Germline Profiling of High-Grade Serous Ovarian Cancer Using Whole-Exome Sequencing.

Hye-Lim Cho1, Seong Eun Bak2, Mi-Ryung Han1,3

  • 1Division of Life Sciences, College of Life Sciences and Bioengineering, Incheon National University, Incheon 22014, Republic of Korea.

International Journal of Molecular Sciences
|June 26, 2026
PubMed
Summary

Germline variant screening may aid early ovarian cancer diagnosis. Genomic analysis revealed overlaps between ovarian cancer patients and individuals with a family history of cancer, suggesting broader genetic links.

Keywords:
clonal hematopoiesisfamily historygermline variantshereditary breast and ovarian cancerhigh-grade serous ovarian cancerpropensity score matchingscreeningsomatic variantswhole-exome sequencing

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Area of Science:

  • Genomics
  • Oncology
  • Cancer Genetics

Background:

  • Ovarian cancer screening is not recommended for the general population.
  • Focus is shifting to screening high-hereditary-risk women.
  • Germline BRCA1/2 variants and family history (FH) explain only part of inherited ovarian cancer risk.

Purpose of the Study:

  • To investigate germline and somatic genetic variants in high-grade serous ovarian cancer (HGSOC) patients and healthy controls (HCs) stratified by FH.
  • To assess the association between pathogenic/likely pathogenic (P/LP) germline variants and family cancer history.
  • To compare somatic variants, including those related to clonal hematopoiesis of indeterminate potential (CHIP).

Main Methods:

  • Whole-exome sequencing (WES) on 231 individuals (39 HGSOC patients, 192 HCs with/without FH).
  • Analysis of P/LP germline variants in cancer-related genes.
  • Somatic variant comparison using propensity score matching and CHIP analysis.

Main Results:

  • P/LP germline variants found in 56.4% of HGSOC patients, 49.4% of FH-positive HCs, and 33.3% of FH-negative HCs.
  • Similar P/LP germline mutation patterns in ovarian cancer genes between HGSOC patients and FH-positive HCs.
  • Somatic CHIP mutations detected in 6.3% of HGSOC patients and 8.5% of HCs.

Conclusions:

  • Significant genomic overlap exists between ovarian cancer patients and individuals with a family history of cancer.
  • Germline variant screening may be beneficial for early ovarian cancer diagnosis in at-risk populations.
  • Current genetic risk assessment may underestimate familial ovarian cancer risk.