Cancer genetics

Week of 6 October 2026

10 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►BRCA1/BRCA2 — cluster-randomized trial: cascade testing reaches 73.2% of relatives with navigation support versus 50.7% with a letter at 6 months (P < .001).
►SDHB/SDHC/SDHD — across 2706 carriers from 57 centres, variant type strongly modifies PPGL outcomes but has little effect on head and neck paraganglioma.
►Endometrial cancer — estimated germline pathogenic variant prevalence of 11.9% (Lynch 1.7%, homologous recombination deficiency 4.7%); testing at diagnosis captures only 54.7% of homologous recombination-related variants.
►Childhood acute leukemia — 9 predisposition diagnoses among 181 children (WGS), 6 previously unrecognized; tailored surveillance in 8 of 9 patients.
►BRCA1/BRCA2 — in 114 patients with breast-ovarian double primary cancers, variants lie more often outside the ovarian cancer cluster region, with no survival difference under PARP inhibitors.
►PARP inhibitors — expansion of TP53-mutant hematopoietic clones is largely explained by prior carboplatin and reduced in germline homologous recombination deficiency.

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Facilitated Cascade Genetic Testing for Relatives of Individuals With BRCA1/2 Pathogenic Variants: A Randomized Controlled Trial.

Germline BRCA1 and BRCA2 pathogenic variants: cascade genetic testing in first-degree relatives

J Clin Oncol 2026· SepRead

SDHB, SDHC, SDHD

Succinate dehydrogenase (SDHB, SDHC, SDHD) gene variants significantly modify clinical outcomes in paraganglioma-pheochromocytoma but have a limited impact on head and neck paraganglioma.

Hereditary paraganglioma and pheochromocytoma linked to SDH genes: genotype-phenotype correlations

Penetrance update

Genet Med 2026· SepRead

Prevalence of pathogenic germline variants and indications for testing in a diverse community-based endometrial cancer cohort.

Endometrial cancer: prevalence of germline pathogenic variants (Lynch syndrome and homologous recombination deficiency) and testing indications

Gynecol Oncol 2026· OctRead

Germline predisposition

Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort.

Childhood acute leukemia: diagnostic yield of testing for hereditary cancer predisposition

Germline predisposition

Nat Commun 2026· SepRead

BRCA1/2 Carriers With Breast-Ovarian Double Primary Cancers Versus Ovarian Cancer Alone: Mutation Profiles and Survival Outcomes.

Germline BRCA1/2-mutated high-grade serous ovarian cancer: breast-ovarian double primary cancers and survival

Int J Cancer 2026· OctRead

Germline-Somatic Interplay Shapes Molecular Divergence in Peripheral Nerve Sheath Tumors.

Peripheral nerve sheath tumors associated with neurofibromatosis type 1

Mod Pathol 2026· OctRead

Germline predisposition

Germline homologous recombination deficiency influences TP53-mutant clonal hematopoiesis fitness during platinum and PARP inhibitor treatment.

Clonal hematopoiesis and therapy-related myeloid neoplasms under carboplatin and PARP inhibitors according to germline homologous recombination deficiency

Germline predispositionPARP inhibitor

Nat Genet 2026· SepRead

Germline predisposition

Clinical and MRI characteristics of germline pathogenic variant carriers diagnosed with prostate cancer.

Prostate cancer in germline pathogenic variant carriers: clinical and MRI characteristics

Germline predisposition

Eur Radiol 2026· SepRead

Somatic and Germline Telomere Biology in Sarcoma: Telomere Maintenance Is Acquired at Liposarcoma Dedifferentiation, and Genetically Longer Telomeres Are Associated With Liposarcoma Risk

Sarcomas: telomere maintenance mechanisms and genetically determined telomere length

medRxiv 2026· SepRead

Universal versus Guideline-Directed Germline Testing in Breast Cancer: Incremental Diagnostic Yield in a Predominantly Black Population.

Breast cancer: yield of universal versus NCCN-guided germline testing in a predominantly Black population

Ann Surg Oncol 2026· OctRead

References and sources

BRCA1/2 — Germline BRCA1 and BRCA2 pathogenic variants: cascade genetic testing in first-degree relatives. J Clin Oncol 2026. PMID 42809807. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42809807/
SDHB, SDHC, SDHD — Hereditary paraganglioma and pheochromocytoma linked to SDH genes: genotype-phenotype correlations. Genet Med 2026. PMID 42813377. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42813377/
Endometrial cancer: prevalence of germline pathogenic variants (Lynch syndrome and homologous recombination deficiency) and testing indications. Gynecol Oncol 2026. PMID 42822083. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42822083/
Childhood acute leukemia: diagnostic yield of testing for hereditary cancer predisposition. Nat Commun 2026. PMID 42806009. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42806009/
BRCA1/2 — Germline BRCA1/2-mutated high-grade serous ovarian cancer: breast-ovarian double primary cancers and survival. Int J Cancer 2026. PMID 42817725. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42817725/
NF1 — Peripheral nerve sheath tumors associated with neurofibromatosis type 1. Mod Pathol 2026. PMID 42833293. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42833293/
Clonal hematopoiesis and therapy-related myeloid neoplasms under carboplatin and PARP inhibitors according to germline homologous recombination deficiency. Nat Genet 2026. PMID 42806144. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42806144/
Prostate cancer in germline pathogenic variant carriers: clinical and MRI characteristics. Eur Radiol 2026. PMID 42806037. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42806037/
TERT — Sarcomas: telomere maintenance mechanisms and genetically determined telomere length. medRxiv 2026. doi:10.64898/2026.09.28.26364135. Score 5/10. https://www.medrxiv.org/content/10.64898/2026.09.28.26364135v1
Breast cancer: yield of universal versus NCCN-guided germline testing in a predominantly Black population. Ann Surg Oncol 2026. PMID 42823579. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42823579/

29 September 2026