Cancer genetics

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Cancer genetics

Week of 21 July 2026

7 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►PTEN — update of cancer surveillance for PHTS (ERN GENTURIS).
►Lynch — rare dMMR/MSS phenotype of gynaecological cancers, mainly in MSH6/PMS2 carriers.
►TP53 — a Li-Fraumeni missense reclassified likely pathogenic through a splicing defect.

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Autosomal dominantPubMed

ERN GENTURIS cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome (PHTS).

PTEN hamartoma tumour syndrome (PHTS)

New recommendation

Eur J Hum Genet 2026· JulRead

Autosomal dominantPubMed

Characterizing Gynecological Cancers with the Uncommon dMMR/MSS Phenotype in Lynch Syndrome Patients.

Lynch syndrome gynaecological cancers (dMMR/MSS phenotype)

J Clin Med 2026· JulRead

Autosomal dominantPubMed

Integrative Genomic Mapping and Visualization From Curated Public Datasets Reveals Germline RB1 Variant Diversity in Retinoblastoma.

Hereditary retinoblastoma (RB1 variants)

Recurrent variant

Invest Ophthalmol Vis Sci 2026· JulRead

Autosomal dominantPubMed

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity.

Li-Fraumeni syndrome

Li-Fraumeni / TP53VUS reclassifiedFunctional SNV

Sci Rep 2026· JulRead

Germline whole-exome sequencing identifies CTNND1 as a candidate gene for hereditary gastric cancer in a large Brazilian cohort.

Hereditary gastric cancer

Gastric cancerRecurrent variant

Gastric Cancer 2026· JulRead

Autosomal dominantPubMed

Prophylactic nipple-sparing mastectomy and immediate breast reconstruction in Chinese BRCA1/2 carriers: a case series with 45-month follow-up and zero breast cancer incidence.

BRCA1/2 carriers — prophylactic mastectomy

Breast cancerProphylactic surgery

Gland Surg 2026· JulRead

Autosomal dominantPubMed

Monoallelic BRCA1/2 variants in pediatric, adolescent, and young adult patients with central nervous system tumors.

Paediatric/AYA CNS tumours — BRCA1/2 variants

ESMO Open 2026· JulRead

References and sources

PTEN — PTEN hamartoma tumour syndrome (PHTS). Eur J Hum Genet 2026. PMID 42463809. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42463809/
Lynch syndrome gynaecological cancers (dMMR/MSS phenotype). J Clin Med 2026. PMID 42452441. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42452441/
RB1 — Hereditary retinoblastoma (RB1 variants). Invest Ophthalmol Vis Sci 2026. PMID 42461076. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42461076/
TP53 — Li-Fraumeni syndrome. Sci Rep 2026. PMID 42463867. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42463867/
CTNND1 — Hereditary gastric cancer. Gastric Cancer 2026. PMID 42446611. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42446611/
BRCA1/2 — BRCA1/2 carriers — prophylactic mastectomy. Gland Surg 2026. PMID 42445074. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42445074/
BRCA1/2 — Paediatric/AYA CNS tumours — BRCA1/2 variants. ESMO Open 2026. PMID 42462279. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42462279/