Cancer genetics

Week of 3 November 2026

12 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►RAD51D — 6,888 coding variants tested: the functional map perfectly separates known pathogenic and benign variants, validated on 70 clinical variants.
►BRCA1/BRCA2 — Risk-reducing mastectomy associated with lower all-cause mortality than MRI screening (HR 0.37) after adjustment for salpingo-oophorectomy, with very low certainty of evidence.
►EPCAM — Among 662 probands, an isolated full-gene deletion is not associated with Lynch syndrome cancers, while an isolated 3' deletion gives a colorectal-predominant phenotype.
►BAP1 — Ovarian sex cord-stromal tumours join the BAP1-TPDS spectrum: 4% ovarian cancer among 176 carriers, tumours in all mouse strains.
►VHL — Four recurrent variants, covering 19.6% of 674 patients, define distinct tumour and prognostic profiles.

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Saturation mutagenesis enables RAD51D clinical variant interpretation and identifies distinct biochemical functions

Breast and ovarian cancer predisposition (RAD51D)

VUS reclassifiedFunctional SNV

Nat Commun 2026· OctRead

Survival After Risk-Reducing Mastectomy in Patients With Pathogenic Variants in BRCA1 and BRCA2: A Network Meta-Analysis

Hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2)

Breast cancerProphylactic surgery

JAMA Netw Open 2026· OctRead

Redefining the EPCAM Phenotype: Deletion Architecture Determines Lynch Syndrome Cancer Risk

Lynch syndrome (EPCAM deletions)

Lynch syndromePenetrance update

JCO Precis Oncol 2026· NovRead

Autosomal dominantPubMed

Ovarian sex cord-stromal tumors are part of the BAP1-tumor predisposition syndrome: evidence from human carriers and mouse models

BAP1-tumor predisposition syndrome: ovarian sex cord-stromal tumors

Phenotypic expansion

NPJ Precis Oncol 2026· OctRead

Autosomal dominantPubMed

Hotspot mutations and tumour spectrum in von Hippel-Lindau syndrome: genotype-phenotype analysis of a large Chinese cohort

Von Hippel-Lindau disease

Recurrent variantPenetrance update

J Cancer Res Clin Oncol 2026· AugRead

Autosomique récessivePubMed

Assessment of the 2022 Constitutional Mismatch Repair Deficiency Syndrome Diagnostic Criteria Using the International Replication Repair Deficiency Consortium

Constitutional mismatch repair deficiency syndrome (CMMRD)

JCO Precis Oncol 2026· NovRead

Retrospective post-implementation evaluation of an eight-variant BRCA1/2 PCR panel using routine referral data and two Ukrainian NGS cohorts

Hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2)

Cancer Treat Res Commun 2026· OctRead

Cardiovascular risk factors at 24 months after risk-reducing salpingo-oophorectomy: a prospective controlled study from WHAM

Hereditary breast and ovarian cancer syndrome: risk-reducing salpingo-oophorectomy

Prophylactic surgery

J Endocr Soc 2026· SepRead

Decision regret following rapid genetic testing at the time of breast cancer diagnosis

Hereditary breast cancer predisposition: genetic testing at diagnosis

Cancer 2026· NovRead

Genetic testing considerations for hereditary duodenopancreatic neuroendocrine tumors

Hereditary duodenopancreatic neuroendocrine tumours

J Neuroendocrinol 2026· NovRead

Brief report: Clinical and Functional Characterization of Rare Germline and Somatic EGFR Variants in Three Patients with Non-Small Cell Lung Cancer

Non-small cell lung cancer: germline EGFR predisposition

J Thorac Oncol 2026· OctRead

Germline BRCA-Lynch syndrome MINAS: report of six Argentinian families and a systematic review of the literature

MINAS: combined hereditary breast and ovarian cancer and Lynch syndromes

Fam Cancer 2026· OctRead

References and sources

RAD51D — Breast and ovarian cancer predisposition (RAD51D). Nat Commun 2026. PMID 42967931. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42967931/
BRCA1/2 — Hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2). JAMA Netw Open 2026. PMID 42961418. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42961418/
EPCAM — Lynch syndrome (EPCAM deletions). JCO Precis Oncol 2026. PMID 42970717. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42970717/
BAP1 — BAP1-tumor predisposition syndrome: ovarian sex cord-stromal tumors. NPJ Precis Oncol 2026. PMID 42957746. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42957746/
VHL — Von Hippel-Lindau disease. J Cancer Res Clin Oncol 2026. PMID 42967954. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42967954/
Constitutional mismatch repair deficiency syndrome (CMMRD). JCO Precis Oncol 2026. PMID 42970793. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42970793/
BRCA1/2 — Hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2). Cancer Treat Res Commun 2026. PMID 42945718. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42945718/
BRCA1/2 — Hereditary breast and ovarian cancer syndrome: risk-reducing salpingo-oophorectomy. J Endocr Soc 2026. PMID 42889535. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42889535/
Hereditary breast cancer predisposition: genetic testing at diagnosis. Cancer 2026. PMID 42967224. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42967224/
MEN1 — Hereditary duodenopancreatic neuroendocrine tumours. J Neuroendocrinol 2026. PMID 42971718. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42971718/
EGFR — Non-small cell lung cancer: germline EGFR predisposition. J Thorac Oncol 2026. PMID 42962921. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42962921/
BRCA1/2 — MINAS: combined hereditary breast and ovarian cancer and Lynch syndromes. Fam Cancer 2026. PMID 42955426. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42955426/

27 October 2026