Cancer genetics

Week of 4 August 2026

10 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►BRCA1 — the c.68_69delAG founder variant was found in 358 of 23,070 individuals tested in India, for an overall yield of 23.85%.
►VHL — 232 renal interventions in 89 patients: nephrectomy after a median of 24.6 years and median overall survival of 20.9 years.
►NF2 — in 168 patients, clinical severity tracks germline variant position, and severe germline variants are associated with milder somatic second hits.
►Mainstream germline testing — pathogenic variants in 14.3% of 223 pancreatic cancer patients, half outside familial criteria, but only 3% of treatments changed.

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Prostate cancer, inherited genetic risk

PubMed

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

Prostate cancer, inherited genetic risk

Penetrance update

J Med Genet 2026· JulRead

NF2

Autosomal dominantmedRxiv

Germline NF2 variant position constrains somatic second hits and determines clinical severity in Neurofibromatosis Type 2-related schwannomatosis

NF2-related schwannomatosis

medRxiv 2026· JulRead

Germline predisposition

PubMed

Mainstream and fast-track genetic testing in pancreatic cancer patients and its impact on treatment: our experience in a tertiary hospital in Spain.

Pancreatic cancer, germline predisposition

Germline predispositionMainstreamingPARP inhibitor

Fam Cancer 2026· AugRead

BRCA1

Autosomal dominantmedRxiv

A Decade of Hereditary Cancer Genetic Testing Results in Asian Indian population: Retrospective Study.

Hereditary cancers, Indian cohort

Li-Fraumeni / TP53Recurrent variantMainstreaming

medRxiv 2026· JulRead

Lynch syndrome

PubMed

Deficient Mismatch Repair Represents a Distinct Molecular Feature of Early-Onset Colorectal Cancer in Chinese Single-Center Cohort.

Early-onset colorectal cancer, mismatch repair deficiency

Lynch syndrome

Int J Cancer 2026· AugRead

VHL

Autosomal dominantPubMed

Repeated Renal Interventions for Renal Cell Carcinoma in von Hippel-Lindau Disease: Long-Term Outcomes.

von Hippel-Lindau disease, renal cell carcinoma

Eur Urol Focus 2026· AugRead

NF1

Autosomal dominantPubMed

Clinical Impact of Germline Multigene Sequencing in Pediatric Cohorts with a Wide Spectrum of Neoplasms.

Childhood cancer predisposition syndromes

Int J Mol Sci 2026· JulRead

BRCA1

PubMed

VAF-tumor content graph: a simple visual framework for interpreting hereditary cancer variants and supporting genetic counseling in tumor-only sequencing.

Interpretation of hereditary cancer variants in tumor-only sequencing

J Hum Genet 2026· JulRead

BRCA1

bioRxiv

Genomic alterations enable BRCA1 methylation loss and promoter bypass to drive resistance in high-grade serous ovarian cancer

High-grade serous ovarian carcinoma

PARP inhibitor

bioRxiv 2026· JulRead

ATM

PubMed

Report of Multilocus Inherited Neoplasia Alleles Syndrome in a Chilean Oncology Institute: New Combinations and Genetic Landscape.

Multilocus inherited neoplasia alleles syndrome

Genes (Basel) 2026· JulRead

References and sources

Prostate cancer, inherited genetic risk. J Med Genet 2026. PMID 42527158. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42527158/
BRCA1 — High-grade serous ovarian carcinoma. bioRxiv 2026. doi:10.64898/2026.07.28.740856. Score 5/10. https://www.biorxiv.org/content/10.64898/2026.07.28.740856v1
BRCA1 — Hereditary cancers, Indian cohort. medRxiv 2026. doi:10.64898/2026.07.29.26358035. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.07.29.26358035v1
Early-onset colorectal cancer, mismatch repair deficiency. Int J Cancer 2026. PMID 42538607. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42538607/
VHL — von Hippel-Lindau disease, renal cell carcinoma. Eur Urol Focus 2026. PMID 42538172. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42538172/
NF1 — Childhood cancer predisposition syndromes. Int J Mol Sci 2026. PMID 42511739. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42511739/
NF2 — NF2-related schwannomatosis. medRxiv 2026. doi:10.64898/2026.07.27.26359036. Score 7/10. https://www.medrxiv.org/content/10.64898/2026.07.27.26359036v1
Pancreatic cancer, germline predisposition. Fam Cancer 2026. PMID 42541517. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42541517/
ATM — Multilocus inherited neoplasia alleles syndrome. Genes (Basel) 2026. PMID 42510879. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42510879/
BRCA1 — Interpretation of hereditary cancer variants in tumor-only sequencing. J Hum Genet 2026. PMID 42527578. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42527578/

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28 July 2026