Cancer genetics

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Cancer genetics

Week of 18 August 2026

17 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►Newborn screening — 6.8% of children who developed cancer before age 8 carried a pathogenic or likely pathogenic variant detectable on their dried blood spot, about 1 newborn in 27,000.
►NF1 — 61.1% of 701 offspring from 322 families were affected versus the expected 50% (p = 5 × 10⁻⁹), challenging the recurrence risk quoted in clinic.
►CDH1 — in 390 carriers from the GASTRIC consortium, endoscopy without mucosal abnormality carries a negative predictive value of 0.94-1.0 for advanced cancer.
►BRCA2 — in PROpel, olaparib plus abiraterone yielded an HR of 0.20 for both radiographic progression-free survival and overall survival, with no conclusive effect for ATM or CDK12.
►MSH6 — after a normal index colonoscopy, the risk of colonic lesions during follow-up exceeds that of MLH1 (HR 3.71) and MSH2 carriers (HR 9.52).

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Childhood cancer predisposition

Population-based genomic detection of childhood cancer predisposition using newborn dried blood spots.

Childhood cancer predisposition

MainstreamingPenetrance update

Nat Commun 2026· AugRead

Autosomal dominantPubMed

Transmission ratio distortion of NF1 mutant alleles in familial Neurofibromatosis type 1.

Neurofibromatosis type 1

Penetrance update

Genet Med 2026· AugRead

Efficacy of Olaparib Plus Abiraterone for Patients with Metastatic Castration-resistant Prostate Cancer and Single Homologous Recombination Repair Gene Mutations in PROpel.

Metastatic castration-resistant prostate cancer

Breast cancerPARP inhibitor

Eur Urol Oncol 2026· AugRead

Autosomal dominantPubMed

Factors Associated with Gastric Signet Ring Cell Carcinoma in CDH1 Pathogenic Variant Carriers: Report from the GASTRIC Consortium.

Hereditary diffuse gastric cancer

Gastric cancerProphylactic surgery

Clin Gastroenterol Hepatol 2026· AugRead

Autosomal dominantPubMed

Chemotherapy type and survival in young BRCA1/BRCA2 carriers with HER2-negative early breast cancer.

HER2-negative early breast cancer in young carriers

Breast cancerMainstreaming

Eur J Cancer 2026· AugRead

Incidence of Germline Genetic Variants in Patients with a Urinary Tract Cancer and Association with Outcomes.

Urinary tract cancer

Lynch syndromeMainstreaming

Eur Urol Oncol 2026· AugRead

Landscape of germline genetic alterations among non-western young male patients with cancer. Findings from The Jordanian exploratory cancer genetics study.

Early-onset cancers in young male patients

Lynch syndromeMainstreamingRecurrent variant

Front Oncol 2026· AugRead

Autosomal dominantPubMed

HMGA2 is a highly sensitive marker for DICER1-related tumours.

DICER1-related tumour predisposition

Histopathology 2026· AugRead

Autosomal dominantPubMed

Targeting KIT prevents brain arteriovenous malformations driven by ALK1-deficient angiogenic endothelial cells.

Hereditary haemorrhagic telangiectasia type 2

J Clin Invest 2026· AugRead

Human PMS1-dependent non-canonical mismatch repair engages with MBD4 to repair methylated CpG deamination.

Mismatch repair and CpG hypermutation in tumours

Lynch syndromeFunctional SNV

Nucleic Acids Res 2026· AugRead

Autosomal dominantPubMed

Genetic Landscape of Lynch Syndrome in a High-Risk Serbian Cohort: Predominance of MLH1 Variants and Implications for Risk-Based Testing.

Lynch syndromeRecurrent variantMainstreaming

Int J Mol Sci 2026· AugRead

Real-World Outcomes of DNA Damage Repair Altered Metastatic Castration-Resistant Prostate Cancer: Insights from FFPE-Based Genomic Profiling.

Metastatic castration-resistant prostate cancer

Cancers (Basel) 2026· AugRead

Autosomal dominantPubMed

Germline predisposition and somatic mutational landscape in synchronous mucinous metaplasia and neoplasia of the female genital tract.

Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN-FGT)

Phenotypic expansionFunctional SNV

Clin Transl Med 2026· AugRead

Autosomal dominantPubMed

Adenomas and Beyond: Colonoscopy Surveillance, Racial and Socioeconomic Disparities in Lynch Syndrome.

Lynch syndromePenetrance update

Gastro Hep Adv 2026· AugRead

Autosomal dominantPubMed

Combined FAK and MEK inhibition suppresses chromosome 8 gain malignant peripheral nerve sheath tumors.

Malignant peripheral nerve sheath tumour associated with neurofibromatosis type 1

J Clin Invest 2026· AugRead

Autosomal dominantPubMed

Muir-Torre Syndrome Associated With a Cryptic Intronic MSH2 Variant Identified via Whole-Genome Sequencing: A Case Report.

Muir-Torre syndrome

Lynch syndromeVUS reclassifiedFunctional SNV

Pathol Int 2026· AugRead

Ovarian, breast, prostate and pancreatic cancers with homologous recombination gene alterations

PARP Inhibitor Sensitivity in Tumors Harboring Non-BRCA Homologous Recombination Gene Alterations: Current Evidence Across Ovarian, Breast, Prostate, and Pancreatic Cancers.

Ovarian, breast, prostate and pancreatic cancers with homologous recombination gene alterations

Int J Mol Sci 2026· AugRead

References and sources

Childhood cancer predisposition. Nat Commun 2026. PMID 42586985. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42586985/
NF1 — Neurofibromatosis type 1. Genet Med 2026. PMID 42583752. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42583752/
BRCA2 — Metastatic castration-resistant prostate cancer. Eur Urol Oncol 2026. PMID 42595654. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42595654/
CDH1 — Hereditary diffuse gastric cancer. Clin Gastroenterol Hepatol 2026. PMID 42604658. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42604658/
BRCA1 — HER2-negative early breast cancer in young carriers. Eur J Cancer 2026. PMID 42580099. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42580099/
CHEK2 — Urinary tract cancer. Eur Urol Oncol 2026. PMID 42595653. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42595653/
APC — Early-onset cancers in young male patients. Front Oncol 2026. PMID 42591272. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42591272/
DICER1 — DICER1-related tumour predisposition. Histopathology 2026. PMID 42583679. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42583679/
ACVRL1 — Hereditary haemorrhagic telangiectasia type 2. J Clin Invest 2026. PMID 42579368. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42579368/
PMS1 — Mismatch repair and CpG hypermutation in tumours. Nucleic Acids Res 2026. PMID 42578366. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42578366/
MLH1 — Lynch syndrome. Int J Mol Sci 2026. PMID 42589309. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42589309/
BRCA2 — Metastatic castration-resistant prostate cancer. Cancers (Basel) 2026. PMID 42588618. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42588618/
BRCA1 — Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN-FGT). Clin Transl Med 2026. PMID 42605498. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42605498/
MSH6 — Lynch syndrome. Gastro Hep Adv 2026. PMID 42602763. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42602763/
NF1 — Malignant peripheral nerve sheath tumour associated with neurofibromatosis type 1. J Clin Invest 2026. PMID 42579369. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42579369/
MSH2 — Muir-Torre syndrome. Pathol Int 2026. PMID 42590823. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42590823/
Ovarian, breast, prostate and pancreatic cancers with homologous recombination gene alterations. Int J Mol Sci 2026. PMID 42589411. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42589411/