Cancer genetics

Week of 22 September 2026

8 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►APC — in a community cohort of 328 familial adenomatous polyposis patients, 11.0% developed a desmoid tumour, and all three colorectal surgical constructions carried the same order of risk.
►RB1 — penetrance of loss-of-function variants is only 28% across 25 adult carriers from the UK Biobank and All of Us, far from the near-complete penetrance of clinical series.
►PTEN — mosaicism identified by tumour sequencing after negative germline blood testing, in a series of 62 adults of whom 61% had a cancer.
►SDHA — no previously unknown tumour found over ten years of high-risk screening in 106 carriers, yet 47% of tumours that did occur were metastatic or behaved malignantly.
►TP53 — 7% of 190 Li-Fraumeni syndrome patients developed a myeloid neoplasm, with overall survival of 77% at 1 year but 17% at 2 years.

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Autosomal dominantPubMed

Risk of desmoid tumor based on APC pathogenic variant location and surgical history in familial adenomatous polyposis: a U.S. community cohort study.

Familial adenomatous polyposis and desmoid tumours

Prophylactic surgeryPenetrance update

Fam Cancer 2026· SepRead

Autosomal dominantPubMed

Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening.

Heritable retinoblastoma

Penetrance update

Eur J Hum Genet 2026· SepRead

Autosomal dominantPubMed

The clinical and phenotypic spectrum of PTEN hamartoma tumor syndrome: a retrospective cohort study.

PTEN hamartoma tumour syndrome

Phenotypic expansion

Fam Cancer 2026· SepRead

Autosomal dominantPubMed

Tumor risks and surveillance outcomes in SDHA variant carriers.

Hereditary paraganglioma and pheochromocytoma predisposition

Penetrance update

Endocr Oncol 2026· SepRead

Autosomal dominantPubMed

Outcomes of adult patients with Li-Fraumeni syndrome and myeloid neoplasms.

Li-Fraumeni syndrome and myeloid neoplasms

Li-Fraumeni / TP53Phenotypic expansion

Cancer 2026· SepRead

An update on APC I1307K homozygosity: observations from a large multigene panel testing cohort.

Colorectal cancer risk associated with the APC I1307K allele

Recurrent variantPenetrance update

Fam Cancer 2026· SepRead

Autosomal dominantPubMed

IVF outcomes and aneuploidy rates in BRCA pathogenic variant carriers undergoing preimplantation genetic testing.

Hereditary breast and ovarian cancer predisposition

Fertil Steril 2026· SepRead

Autosomal dominantPubMed

Investigating the clinical utility of plasma succinate with insights from a Sdhb deficient murine model.

Hereditary pheochromocytoma and paraganglioma

Endocr Relat Cancer 2026· SepRead

References and sources

APC — Familial adenomatous polyposis and desmoid tumours. Fam Cancer 2026. PMID 42753019. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42753019/
RB1 — Heritable retinoblastoma. Eur J Hum Genet 2026. PMID 42760334. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42760334/
PTEN — PTEN hamartoma tumour syndrome. Fam Cancer 2026. PMID 42753013. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42753013/
SDHA — Hereditary paraganglioma and pheochromocytoma predisposition. Endocr Oncol 2026. PMID 42762005. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42762005/
TP53 — Li-Fraumeni syndrome and myeloid neoplasms. Cancer 2026. PMID 42755391. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42755391/
APC — Colorectal cancer risk associated with the APC I1307K allele. Fam Cancer 2026. PMID 42753012. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42753012/
BRCA1 — Hereditary breast and ovarian cancer predisposition. Fertil Steril 2026. PMID 42753940. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42753940/
SDHB — Hereditary pheochromocytoma and paraganglioma. Endocr Relat Cancer 2026. PMID 42758527. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42758527/

15 September 2026