Cancer genetics

Week of 29 September 2026

13 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►BRCA1/BRCA2 — delaying salpingo-oophorectomy to age 50 leaves a 30-year-old BRCA1 carrier a projected residual ovarian cancer risk of 23.9%, according to a prospective cohort across 24 centres.
►Lynch syndrome — across 33,530 patients, the pooled gastric cancer incidence is 0.98 per 1,000 person-years, 1.27 for MSH2 versus 0.03 for MSH6.
►BRCA2 — of 88 variants of uncertain significance assessed by saturation genome editing, 15 are functionally pathogenic and 66 functionally benign.
►Metastatic prostate cancer — the tumour-first strategy identifies 22 germline carriers versus 8 for family history-based referral, at €998 versus €12,246 per variant detected.
►APC — after prophylactic colectomy, desmoid occurs in 80% of high-risk patients with a family history, versus 15% without.

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Projected Benefit of Bilateral Salpingo-Oophorectomy by Age in BRCA Carriers.

Hereditary ovarian cancer: timing of risk-reducing salpingo-oophorectomy in BRCA1 and BRCA2 carriers

Prophylactic surgeryPenetrance update

JAMA Surg 2026· SepRead

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Diffuse gastric cancer associated with germline CDH1 variants

Gastric cancerProphylactic surgery

J Med Genet 2026· SepRead

Gastric and Duodenal Cancer in Lynch Syndrome: Incidence and Endoscopic Surveillance-Systematic Review and Meta-analysis.

Gastric and duodenal cancer in Lynch syndrome

Lynch syndromePenetrance update

Clin Gastroenterol Hepatol 2026· SepRead

Reclassification of BRCA2 Variants of Uncertain Significance Using Saturation Genome Editing Combined with Clinical Phenotypes in Breast Cancer.

Breast cancer: reclassification of BRCA2 variants of uncertain significance

Breast cancerVUS reclassified

Curr Oncol 2026· AugRead

Germline predisposition

Tumour-first DNA testing as a gateway to germline screening in patients with metastatic prostate cancer.

Metastatic prostate cancer and germline pathogenic variants

Germline predispositionMainstreaming

Eur J Cancer 2026· SepRead

Germline predisposition

Universal versus guideline-based germline multigene panel testing in solid tumors: Diagnostic yield, variant of uncertain significance burden, and clinical actionability - A systematic review with meta-analysis.

Adult solid tumours: universal versus guideline-based germline multigene testing

Germline predispositionMainstreaming

Genet Med 2026· SepRead

A frequently occurring MSH2 variant in Iraqi and Chaldean patients with Lynch syndrome: evidence for a putative founder variant.

Lynch syndrome: putative MSH2 founder variant in Iraqi and Chaldean patients

Lynch syndromeRecurrent variant

Fam Cancer 2026· SepRead

Germline predisposition

Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study.

Paediatric cancer predisposition syndromes

Germline predisposition

Eur J Hum Genet 2026· SepRead

Clinical impact of ENIGMA-based variant reclassification on genotype-phenotype analyses in BRCA1- and BRCA2-associated hereditary breast and ovarian cancer.

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer

Breast cancerVUS reclassified

Breast Cancer 2026· SepRead

Long-term Endoscopic Surveillance in Hereditary Diffuse Gastric Cancer Syndrome.

Hereditary diffuse gastric cancer (HDGC)

Gastric cancerProphylactic surgery

Cancer Prev Res (Phila) 2026· SepRead

Defining absolute postoperative desmoid risk in familial adenomatous polyposis according to APC genotype and family history: retrospective cohort study.

Familial adenomatous polyposis and postoperative desmoid tumours

Prophylactic surgeryPenetrance update

BJS Open 2026· SepRead

Germline predisposition

Presumed Intraductal Papillary Mucinous Neoplasms in Individuals at High Risk for Pancreatic Cancer.

Presumed pancreatic IPMNs in individuals at high hereditary risk of pancreatic cancer

Germline predisposition

JAMA Netw Open 2026· SepRead

Genetic risk factors in Early-Onset Gastric Cancer: A systematic review and meta-analysis.

Early-onset gastric cancer

Cancer Genet 2026· SepRead

References and sources

BRCA1/2 — Hereditary ovarian cancer: timing of risk-reducing salpingo-oophorectomy in BRCA1 and BRCA2 carriers. JAMA Surg 2026. PMID 42776544. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42776544/
CDH1 — Diffuse gastric cancer associated with germline CDH1 variants. J Med Genet 2026. PMID 42767841. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42767841/
Gastric and duodenal cancer in Lynch syndrome. Clin Gastroenterol Hepatol 2026. PMID 42790840. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42790840/
BRCA2 — Breast cancer: reclassification of BRCA2 variants of uncertain significance. Curr Oncol 2026. PMID 42782867. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42782867/
Metastatic prostate cancer and germline pathogenic variants. Eur J Cancer 2026. PMID 42800309. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42800309/
Adult solid tumours: universal versus guideline-based germline multigene testing. Genet Med 2026. PMID 42781783. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42781783/
MSH2 — Lynch syndrome: putative MSH2 founder variant in Iraqi and Chaldean patients. Fam Cancer 2026. PMID 42801369. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42801369/
Paediatric cancer predisposition syndromes. Eur J Hum Genet 2026. PMID 42791327. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42791327/
BRCA1/2 — BRCA1- and BRCA2-associated hereditary breast and ovarian cancer. Breast Cancer 2026. PMID 42789170. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42789170/
CDH1 — Hereditary diffuse gastric cancer (HDGC). Cancer Prev Res (Phila) 2026. PMID 42784746. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42784746/
APC — Familial adenomatous polyposis and postoperative desmoid tumours. BJS Open 2026. PMID 42765567. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42765567/
Presumed pancreatic IPMNs in individuals at high hereditary risk of pancreatic cancer. JAMA Netw Open 2026. PMID 42776526. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42776526/
CDH1 — Early-onset gastric cancer. Cancer Genet 2026. PMID 42801866. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42801866/

22 September 2026