Cancer genetics

Week of 13 October 2026

8 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►BRCA1/BRCA2 — harmonized integration of functional assays resolves 80.1% of BRCA1 and 69.5% of BRCA2 variants of uncertain significance, classifying 6517 missense variants.
►DICER1 — among 170 carrier relatives, cumulative incidence of malignant neoplasms of 4.8% at 10 years and 15.8% at 50 years; ETMR-like brain tumors and testicular Sertoli cell tumors added to the spectrum.
►Relapsed pediatric cancers — germline WES in the MAPPYACTS trial finds a pathogenic or likely pathogenic variant in 19.3% of 674 patients, led by TP53; genetic counseling recommended for 8.6%.
►Multigene panel — among 153,767 individuals tested, 22% of carriers of an actionable variant would have been missed by testing criteria.
►MLH1 — in India, 51.2% of patients with MSI-H/dMMR tumours have germline Lynch syndrome; two recurrent MLH1 variants account for 36.4% of diagnoses.
►MEN1 — a truncating variant is associated with a 3.8-fold risk of reintervention and a 5.5-fold risk of distant metastases after surgery for duodenopancreatic neuroendocrine tumors.

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Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.

Hereditary breast and ovarian cancer predisposition (BRCA1/BRCA2): classification of missense variants of uncertain significance

Breast cancerVUS reclassifiedFunctional SNV

Am J Hum Genet 2026· OctRead

Autosomal dominantPubMed

Refining neoplasm risk in DICER1-related tumor predisposition.

DICER1-related tumor predisposition: tumor spectrum and neoplasm risk

Germline predispositionPenetrance update

Eur J Cancer 2026· OctRead

Germline predisposition

Clinically actionable genetic findings by exome sequencing performed for therapeutic purposes in children with very-high risk cancer included the MAPPYACTS study.

Relapsed or refractory cancers in children and young adults: actionable germline findings from exome sequencing

Germline predisposition

Eur J Cancer 2026· OctRead

Yield of actionable variants from high-risk cancer gene panel testing in guideline-eligible and ineligible individuals.

Hereditary cancer predisposition: multigene panel yield according to testing criteria

Front Genet 2026· SepRead

Autosomal dominantPubMed

Characterisation of a Portuguese origin founder missense variant in MSH6.

MSH6-related Lynch syndrome: founder missense variant of Portuguese origin

Lynch syndromeRecurrent variant

Eur J Hum Genet 2026· OctRead

Autosomal dominantPubMed

Pan-cancer prevalence of microsatellite instability and Lynch syndrome in India.

Lynch syndrome in India: pan-cancer prevalence of microsatellite instability and tumour-first screening

Lynch syndromeRecurrent variant

Fam Cancer 2026· OctRead

Autosomal dominantPubMed

Association between genotype and long-term risk of reintervention and distant metastases in patients with multiple endocrine neoplasia type 1-associated duodenopancreatic neuroendocrine tumors.

Multiple endocrine neoplasia type 1: duodenopancreatic neuroendocrine tumors, reintervention and metastases according to genotype

Germline predisposition

Surgery 2026· SepRead

Apc-deficient pituitary stem cells drive adamantinomatous craniopharyngioma through senescence-associated inflammation.

Adamantinomatous craniopharyngioma: role of Apc loss in a mouse model

EMBO Mol Med 2026· OctRead

References and sources

BRCA1/2 — Hereditary breast and ovarian cancer predisposition (BRCA1/BRCA2): classification of missense variants of uncertain significance. Am J Hum Genet 2026. PMID 42863474. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42863474/
DICER1 — DICER1-related tumor predisposition: tumor spectrum and neoplasm risk. Eur J Cancer 2026. PMID 42837805. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42837805/
Relapsed or refractory cancers in children and young adults: actionable germline findings from exome sequencing. Eur J Cancer 2026. PMID 42843210. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42843210/
Hereditary cancer predisposition: multigene panel yield according to testing criteria. Front Genet 2026. PMID 42831105. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42831105/
MSH6 — MSH6-related Lynch syndrome: founder missense variant of Portuguese origin. Eur J Hum Genet 2026. PMID 42855583. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42855583/
MLH1, MSH2 — Lynch syndrome in India: pan-cancer prevalence of microsatellite instability and tumour-first screening. Fam Cancer 2026. PMID 42842020. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42842020/
MEN1 — Multiple endocrine neoplasia type 1: duodenopancreatic neuroendocrine tumors, reintervention and metastases according to genotype. Surgery 2026. PMID 42844120. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42844120/
APC — Adamantinomatous craniopharyngioma: role of Apc loss in a mouse model. EMBO Mol Med 2026. PMID 42855520. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42855520/