Cancer genetics

Week of 15 September 2026

9 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►MSH3 and MLH3 — germline heterozygotes carry an increased colorectal cancer risk (2.2- and 1.6-fold) through a somatic second hit, with signature ID4 in microsatellite-stable yet hypermutant tumours.
►ATM — targeted reanalysis of 1,707 probands raised diagnostic yield from 4.3% to 9.7% in the pancreatic setting (OR 15.81).
►PTEN — 36.8% of variants reclassified in the nationwide Danish series using gene-specific ACMG criteria, including 9 downgraded to benign.
►SDHB — minigene assay and RNA sequencing reclassified 13 of 26 splice-associated variants, 12 of them downgraded to likely benign.
►Polygenic risk score — among 5,388 childhood cancer survivors, pathogenic panel gene variants conferred a 7.4-fold risk of subsequent breast cancer.

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Autosomal dominant à pénétrance incomplètePubMed

Heterozygous germline mutations in MSH3, and probably MLH3, act as classical tumour suppressors, leading to excess somatic deletion mutations, signature ID4 and increased colorectal cancer risk.

Colorectal cancer and multiple polyposis

New genePenetrance update

Gut 2026· SepRead

Integrating genetic predictors into subsequent breast cancer risk prediction in survivors of childhood cancer.

Subsequent breast cancer in childhood cancer survivors

J Natl Cancer Inst 2026· SepRead

Autosomal dominant à pénétrance incomplètePubMed

Germline ATM Testing in Hereditary Cancer Syndromes: Feedback from a Five-Year Center Cohort.

Hereditary breast and pancreatic cancer predisposition

Breast cancerPenetrance update

Genet Med 2026· SepRead

Autosomal dominantPubMed

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

PTEN hamartoma tumour syndrome

VUS reclassified

J Med Genet 2026· SepRead

Autosomal dominantPubMed

Genomic Landscape of 6597 Hong Kong HBOC Patients: Implications for Beyond-BRCA Multi-Gene Panel Testing and Cancer Surveillance.

Hereditary breast and ovarian cancer predisposition

Breast cancerMainstreaming

Int J Mol Sci 2026· AugRead

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

Melanoma susceptibility and nevus count

Am J Hum Genet 2026· SepRead

Autosomal dominantPubMed

Endoscopic management of duodenal lesions in familial adenomatous polyposis: A tertiary referral center experience.

Familial adenomatous polyposis

Dig Liver Dis 2026· SepRead

Autosomal dominantPubMed

Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B.

Hereditary pheochromocytoma and paraganglioma

VUS reclassifiedFunctional SNV

NPJ Precis Oncol 2026· SepRead

Autosomal dominantPubMed

Mismatch Repair Deficiency in Upper Gastrointestinal and Pancreaticobiliary Cancers: Integrating Multimodal Molecular Data in Clinical Practice.

Lynch syndrome and upper gastrointestinal cancers

Lynch syndromeMainstreaming

Arch Pathol Lab Med 2026· SepRead

References and sources

MSH3 — Colorectal cancer and multiple polyposis. Gut 2026. PMID 42728028. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42728028/
ATM — Hereditary breast and pancreatic cancer predisposition. Genet Med 2026. PMID 42725421. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42725421/
PTEN — PTEN hamartoma tumour syndrome. J Med Genet 2026. PMID 42716728. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42716728/
PALB2 — Hereditary breast and ovarian cancer predisposition. Int J Mol Sci 2026. PMID 42737475. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42737475/
RAPGEF1 — Melanoma susceptibility and nevus count. Am J Hum Genet 2026. PMID 42716012. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42716012/
APC — Familial adenomatous polyposis. Dig Liver Dis 2026. PMID 42711179. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42711179/
SDHB — Hereditary pheochromocytoma and paraganglioma. NPJ Precis Oncol 2026. PMID 42711465. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42711465/
MLH1 — Lynch syndrome and upper gastrointestinal cancers. Arch Pathol Lab Med 2026. PMID 42730524. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42730524/
Subsequent breast cancer in childhood cancer survivors. J Natl Cancer Inst 2026. PMID 42714245. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42714245/

8 September 2026