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Related Experiment Videos

Do Hoon Kim1, Chi Heum Cho2, Sun Young Kwon3

  • 1Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

Journal of Gynecologic Oncology
|September 13, 2018
PubMed
Summary
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Comprehensive genetic testing found BRCA1/2 mutations in 16.8% of ovarian cancer patients. Large genomic rearrangements (LGRs) are important in Sanger-negative cases, especially with a family history of breast or ovarian cancer.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • BRCA1 and BRCA2 mutations are key drivers in hereditary breast and ovarian cancers.
  • Accurate identification of these mutations is crucial for patient management and targeted therapies.
  • Previous studies have focused on small-scale mutations, potentially overlooking large genomic rearrangements (LGRs).

Purpose of the Study:

  • To determine the prevalence and characteristics of BRCA1/2 mutations, including small-scale mutations and LGRs, in a cohort of ovarian cancer patients.
  • To evaluate the utility of genetic risk models in predicting BRCA1/2 mutation status.
  • To assess the clinical significance of LGRs in ovarian cancer.

Main Methods:

  • Conducted small-scale mutation analysis using Sanger sequencing and LGR analysis via multiplex ligation-dependent probe amplification (MLPA) and long-range polymerase chain reaction (PCR).
Keywords:
GenesKoreaMutationNeoplasmsOvary

Related Experiment Videos

  • Enrolled 131 ovarian cancer patients treated at a single institution from September 2015 to April 2017.
  • Utilized genetic risk models (BRCAPRO, Myriad, BOADICEA) to assess mutation prediction.

    • Main Results:

    • Identified 16 different BRCA1/2 small-scale mutations in 20 patients (15.3%) via Sanger sequencing.
    • Detected two novel nonsense mutations in patients with serous borderline tumor and large-cell neuroendocrine carcinoma.
    • MLPA analysis revealed two LGRs in Sanger-negative patients, accounting for 14.3% of all identified BRCA1 mutations and 1.8% of Sanger-negative patients.
    • Genetic risk models showed significant differences between mutation carriers and non-carriers.
    • Patients with LGRs had a positive family history of breast or ovarian cancer.

    Conclusions:

    • A total of 22 patients (16.8%) had detectable BRCA1/2 mutations through comprehensive genetic testing.
    • Ovarian cancer patients with negative Sanger sequencing results and a family history of breast or ovarian cancer should be considered for LGR testing.
    • Enhanced detection of BRCA1/2 mutations, including LGRs, is vital for implementing targeted therapies in ovarian cancer management.