Publications by authors named "F Hogervorst"
Cohort profile: a nationwide study in Dutch c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2.
BMJ Open
October 2024
Article Synopsis
- The c.1100delC genetic variant is linked to a higher risk of breast cancer in women, with research focusing on its effects within a Dutch study cohort, Hebon, which initially centered on known breast cancer-related genetic variants.
- The study included 1,802 female participants, revealing that carriers of c.1100delC were diagnosed with breast cancer at younger ages and had specific cancer characteristics compared to non-carriers.
- Future research aims to enhance understanding of breast cancer risk in women who test negative but are from families with c.1100delC, utilizing ongoing data from the Netherlands Cancer Registry.
Background: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of (CIMBA), UK Biobank (UKBB), and FinnGen to identify novel HGSOC susceptibility loci and develop polygenic scores (PGS).
Methods: We analyzed >22 million variants for 398,238 women.
Article Synopsis
- Oncology is shifting towards genome-driven practices, but most cancer diagnostics still rely on traditional microscopy methods, creating delays in using new genomic biomarkers for patient treatment.* -
- Whole-genome sequencing (WGS) can improve diagnostics by detecting numerous genomic changes in one cost-effective test, and it has been shown to be feasible and valid in a clinical setting, with results provided in about 11 workdays.* -
- Successful WGS implementation, such as at the Netherlands Cancer Institute, requires a detailed protocol addressing sample handling and integration into clinical workflows to overcome challenges faced by pathology labs using conventional sample methods.*
Purpose: Genome sequencing (GS) enables comprehensive molecular analysis of tumors and identification of hereditary cancer predisposition. According to guidelines, directly determining pathogenic germline variants (PGVs) requires pretest genetic counseling, which is cost-ineffective. Referral for genetic counseling based on tumor variants alone could miss relevant PGVs and/or result in unnecessary referrals.
View Article and Find Full Text PDFThe uptake of genetic counseling and predictive genetic testing by family members at risk for hereditary tumor syndromes is generally below 50%. To address this issue, a new guideline was introduced in the Netherlands in 2019 that aims to improve the sharing of information within families. In addition to cascade screening supported by follow-up telephone calls with the proband, municipal records were accessed to allow the geneticist to contact at-risk family members directly.
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