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Cancer genetics
Week of 14 July 2026
10 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►BRCA1/BRCA2/PALB2 — clinician-light mainstream germline testing detects 4.7% of carriers among 3515 unselected patients; current NHS criteria miss half of variants.
- ►CDH1 — signet ring cell carcinoma burden, predicted by endoscopic biopsies, remains stable over time, supporting extended surveillance before prophylactic gastrectomy.
- ►CDKN2A — a 234-kb founder deletion disrupting a distant enhancer, confirmed by CRISPR, predisposes to familial melanoma.
- ►BRCA1/BRCA2 — the ovarian tumour HRD score provides ACMG/AMP evidence to classify variants and reclassify VUS (ENIGMA consortium).
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Breast cancer
PubMed★ Top pick
Routine germline genetic testing in 3552 unselected NHS breast cancer patients: evidence informing testing criteria and implementation of a 'BRCA-DIRECT' mainstreaming pathway.
Hereditary breast cancer
0
Breast cancerMainstreaming
NPJ Breast Cancer 2026· JulRead
CDH1
Autosomal dominantPubMed★ Top pick
Predictors of early cancer burden in CDH1 pathogenic variant carriers: a UK single-centre cohort study.
Hereditary diffuse gastric cancer (HDGC)
0
Gastric cancerProphylactic surgery
EClinicalMedicine 2026· JulRead
CDKN2A
Autosomal dominantPubMed★ Top pick
Large distant deletion disrupts CDKN2A enhancer and predisposes to melanoma.
Familial melanoma
0
Li-Fraumeni / TP53Recurrent variantFunctional SNV
medRxiv 2026· JulRead
BRCA1
PubMed★ Top pick
Homologous recombination deficiency-driven genomic instability in ovarian cancer as an indicator of BRCA1 and BRCA2 variant pathogenicity.
High-grade ovarian cancer — BRCA1/BRCA2 variant classification
0
VUS reclassified
Am J Hum Genet 2026· JunRead
Invasive lobular breast carcinoma
PubMedGermline Multigene Panel Testing in Women With Invasive Lobular Cancer.
Invasive lobular breast carcinoma
0
JAMA Netw Open 2026· JulRead
TP53
Autosomal dominantPubMedSurveillance adherence and clinical findings in children with confirmed or familial TP53 variants: the Swedish multicenter constitutional TP53 study (SWEP53).
Li-Fraumeni syndrome
0
Li-Fraumeni / TP53
Genet Med 2026· JulRead
Secondary findings in cancer predisposition genes
PubMedA follow-up cohort study on secondary findings in cancer predisposition genes from 20,205 Chinese individuals.
Secondary findings in cancer predisposition genes
0
Clin Chim Acta 2026· JulRead
Hereditary prostate cancer
PubMedGermline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.
Hereditary prostate cancer
0
Sci Rep 2026· JulRead
MSH2
Autosomal dominantPubMedLynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencing.
Lynch syndrome
0
Lynch syndrome
Fam Cancer 2026· JulRead
Germline predisposition
PubMedGermline landscape stratification defines distinct molecular and prognostic groups in therapy related myeloid neoplasms.
Therapy-related myeloid neoplasms (t-MN)
0
Germline predisposition
Blood Adv 2026· JulRead
References and sources
- Hereditary breast cancer. NPJ Breast Cancer 2026. PMID 42426004. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42426004/
- CDH1 — Hereditary diffuse gastric cancer (HDGC). EClinicalMedicine 2026. PMID 42433273. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42433273/
- CDKN2A — Familial melanoma. medRxiv 2026. PMID 42388889. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42388889/
- Invasive lobular breast carcinoma. JAMA Netw Open 2026. PMID 42418202. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42418202/
- MSH2 — Lynch syndrome. Fam Cancer 2026. PMID 42423801. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42423801/
- Therapy-related myeloid neoplasms (t-MN). Blood Adv 2026. PMID 42431630. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42431630/
- TP53 — Li-Fraumeni syndrome. Genet Med 2026. PMID 42417139. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42417139/
- Secondary findings in cancer predisposition genes. Clin Chim Acta 2026. PMID 42413599. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42413599/
- Hereditary prostate cancer. Sci Rep 2026. PMID 42393169. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42393169/
- BRCA1 — High-grade ovarian cancer — BRCA1/BRCA2 variant classification. Am J Hum Genet 2026. PMID 42335889. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42335889/
