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Cancer genetics
Week of 8 September 2026
8 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►Colorectal cancer — 15.2% pathogenic variants on germline panel testing in unselected patients, with high-penetrance yield remaining above 5% up to age 67.
- ►BRCA non-mutated ovarian cancer — pembrolizumab-olaparib improves progression-free survival (ITT HR 0.71, 1,367 patients), at the cost of 66% grade 3 or higher events.
- ►APC / MUTYH — the ACG updates its GRADE guideline on adenomatous polyposis: germline testing indications, surgical timing, duodenal surveillance and chemoprevention.
- ►PTEN, STIM1 — germline transposable element insertions account for 0.8% of pediatric cancers across 5,781 genomes, with documented transcriptional impact.
- ►BRCA1/BRCA2 — Irish national programme: 10.3% actionable germline variants in 455 patients, and 9.5% somatic variants among paired germline-negative patients.
8 articles of 8
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Breast cancer
PubMed★ Top pick
Chemotherapy with or without pembrolizumab followed by maintenance pembrolizumab with or without olaparib as first-line treatment of patients with advanced BRCA non-mutated epithelial ovarian cancer (ENGOT-OV43/GOG-3036/KEYLYNK-001): a randomised, double-blind, placebo-controlled, phase 3 trial
Advanced BRCA non-mutated epithelial ovarian cancer
9
Breast cancerPARP inhibitor
Lancet Oncol 2026· SepRead
Hereditary colorectal cancer
PubMedGermline multigene panel testing for colorectal cancer: a systematic review and meta-analysis
Hereditary colorectal cancer
8
Mainstreaming
Lancet Gastroenterol Hepatol 2026· SepRead
Pediatric cancer predisposition
PubMedThe role of germline transposable element insertions in pediatric cancer predisposition
Pediatric cancer predisposition
7
Cancer Res Commun 2026· SepRead
BRCA1
Autosomal dominantPubMedPrevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program
Hereditary ovarian cancer
7
Germline predispositionMainstreamingRecurrent variant
Eur J Hum Genet 2026· SepRead
APC
Autosomal dominant ou autosomal recessivePubMedACG Clinical Guideline: Diagnosis and Management of Adenomatous Colorectal Polyposis Syndromes
Hereditary adenomatous colorectal polyposis syndromes
6
New recommendationProphylactic surgery
Am J Gastroenterol 2026· SepRead
BRCA1
Autosomal dominantPubMedFrom genetic testing to prevention: an integrated clinical pathway for hereditary risk assessment in tubo-ovarian cancer
Hereditary tubo-ovarian cancer
6
Germline predispositionMainstreamingProphylactic surgery
Int J Gynecol Cancer 2026· AugRead
SDHB
Autosomal dominantPubMedMolecular clusters and precision medicine in pheochromocytomas and paragangliomas
Pheochromocytomas and paragangliomas
5
Endocr Relat Cancer 2026· SepRead
MLH1
Autosomal dominantPubMedReal-world uptake of Lynch syndrome testing among patients with mismatch repair-deficient endometrial cancer in Québec
Lynch syndrome — endometrial cancer
5
Lynch syndromeMainstreaming
J Obstet Gynaecol Can 2026· SepRead
References and sources
- APC — Hereditary adenomatous colorectal polyposis syndromes. Am J Gastroenterol 2026. PMID 42683623. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42683623/
- Hereditary colorectal cancer. Lancet Gastroenterol Hepatol 2026. PMID 42692037. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42692037/
- BRCA1 — Hereditary tubo-ovarian cancer. Int J Gynecol Cancer 2026. PMID 42617415. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42617415/
- Pediatric cancer predisposition. Cancer Res Commun 2026. PMID 42685354. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42685354/
- BRCA1 — Hereditary ovarian cancer. Eur J Hum Genet 2026. PMID 42693191. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42693191/
- SDHB — Pheochromocytomas and paragangliomas. Endocr Relat Cancer 2026. PMID 42626933. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42626933/
- MLH1 — Lynch syndrome — endometrial cancer. J Obstet Gynaecol Can 2026. PMID 42705461. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42705461/
- Advanced BRCA non-mutated epithelial ovarian cancer. Lancet Oncol 2026. PMID 42705254. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42705254/