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Cancer genetics
Week of 13 May 2026
11 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►PARP inhibitors — 20 years of BRCA–PARP synthetic lethality: from discovery to germline companion biomarker (Nature).
- ►TP53 — LFSPRO outperforms Chompret criteria (sensitivity 81% vs. 33%, AUC 0.88) for Li-Fraumeni carrier identification.
- ►BRCA2 — predictive code for reversion mutations under PARPi defined: sequence context + domain architecture.
- ►ACVRL1 — ACVRL1 carriers show attenuated pomalidomide response vs. ENG carriers in hereditary hemorrhagic telangiectasia.
- ►CDH1 — gastroesophageal cancer <50 years: 2.2% germline CDH1 variant rate — supports systematic cancer genetics referral.
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TP53
Autosomique dominantPubMed★ Top pick
Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.
Li-Fraumeni syndrome (LFS) — TP53 hereditary multi-cancer predisposition
9
/10
Li-Fraumeni / TP53New recommendationPenetrance update
Am J Hum Genet 2026· MayRead
BRCA2
Autosomique dominantPubMed★ Top pick
Measuring disease likelihood in genomic ascertainment.
Secondary findings in genome sequencing — BRCA1/BRCA2: likelihood of genuine clinical diagnosis
9
/10
VUS reclassifiedMainstreaming
Am J Hum Genet 2026· MayRead
ACVRL1
Autosomique dominantPubMed★ Top pick
Characteristics associated with clinical response to pomalidomide in hereditary hemorrhagic telangiectasia.
Hereditary hemorrhagic telangiectasia (HHT) — recurrent epistaxis and gastrointestinal bleeding linked to ENG or ACVRL1
9
/10
PARP inhibitorPenetrance update
Blood Advances 2026· MayRead
BRCA1
Autosomique dominantPubMed⭐ À la une
Two decades of PARP inhibitor synthetic lethality in cancer.
BRCA1/BRCA2 hereditary breast, ovarian, prostate, and pancreatic cancer predisposition — PARP inhibitors as germline therapeutic biomarker
8
/10
PARP inhibitorNew recommendation
Nature 2026· MayRead
BRCA1/2
Autosomique dominantPubMedUltra-rare functional variants reveal early-onset breast cancer risk genes and pathways in the UK Biobank and All of Us Research Program.
Early-onset breast cancer — ultra-rare germline variants in predisposition genes and pathways
8
/10
Breast cancerRecurrent variantPenetrance update
Am J Hum Genet 2026· MayRead
CDH1
Autosomique dominantPubMedMolecular characteristics and clinical outcomes of patients with gastroesophageal cancer diagnosed at ages younger than 50 years.
Early-onset gastroesophageal cancer (<50 years) — enrichment in germline CDH1 and TP53 variants
8
/10
Gastric cancerRecurrent variantPenetrance update
JNCI Cancer Spectr 2026· MayRead
MSH2
Autosomique dominantPubMedWGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand.
Lynch syndrome — hereditary colorectal and associated cancer predisposition linked to MMR genes
7
/10
Lynch syndromeRecurrent variantMainstreaming
PLoS ONE 2026· JanRead
BRCA2
Autosomique dominantPubMedUptake of cascade tests in relatives of patients undergoing cancer precision medicine in Japan.
Germline variants identified through cancer precision medicine — cascade testing of relatives (BRCA1/2, ATM, MSH2, APC, BAP1, CDK4, CDKN2A, RAD51C)
7
/10
MainstreamingRecurrent variant
Jpn J Clin Oncol 2026· MayRead
BRCA2
Autosomique dominantbioRxivDecoding the BRCA2 reversion principles underlying PARP inhibitor resistance.
Germline BRCA2 cancer — PARP inhibitor resistance mechanisms through reversion mutations
7
/10
PARP inhibitorNew mechanism
bioRxiv 2026· MayRead
BRCA1
Autosomique dominantbioRxivEpithelial mesenchymal transition initiates precancer states in BRCA1 mutation carriers.
BRCA1 germline carriers — mammary precancerous states and susceptibility to epithelial-mesenchymal transition
6
/10
PARP inhibitorNew mechanism
bioRxiv 2026· MayRead
Lynch
Autosomique dominantPubMedLynch syndrome integrative epidemiology and genetics (LINEAGE): rationale for cohort design.
Lynch syndrome — integrative epidemiological cohort (genetics, environment, penetrance)
6
/10
Lynch syndromePenetrance updateMainstreaming
Fam Cancer 2026· MayRead
References and sources
- BRCA1 — BRCA1/BRCA2 hereditary breast, ovarian, prostate, and pancreatic cancer predisposition — PARP inhibitors as germline therapeutic biomarker. Nature 2026. PMID 42092061. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42092061/
- TP53 — Li-Fraumeni syndrome (LFS) — TP53 hereditary multi-cancer predisposition. Am J Hum Genet 2026. PMID 41990740. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/41990740/
- BRCA2 — Secondary findings in genome sequencing — BRCA1/BRCA2: likelihood of genuine clinical diagnosis. Am J Hum Genet 2026. PMID 41950923. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/41950923/
- BRCA1/2 — Early-onset breast cancer — ultra-rare germline variants in predisposition genes and pathways. Am J Hum Genet 2026. PMID 41916322. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41916322/
- ACVRL1 — Hereditary hemorrhagic telangiectasia (HHT) — recurrent epistaxis and gastrointestinal bleeding linked to ENG or ACVRL1. Blood Advances 2026. PMID 41719457. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/41719457/
- MSH2 — Lynch syndrome — hereditary colorectal and associated cancer predisposition linked to MMR genes. PLoS ONE 2026. PMID 42113783. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42113783/
- CDH1 — Early-onset gastroesophageal cancer (<50 years) — enrichment in germline CDH1 and TP53 variants. JNCI Cancer Spectr 2026. PMID 41950398. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41950398/
- BRCA2 — Germline variants identified through cancer precision medicine — cascade testing of relatives (BRCA1/2, ATM, MSH2, APC, BAP1, CDK4, CDKN2A, RAD51C). Jpn J Clin Oncol 2026. PMID 41691475. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41691475/
- BRCA2 — Germline BRCA2 cancer — PARP inhibitor resistance mechanisms through reversion mutations. bioRxiv 2026. doi:10.64898/2026.04.29.721733. Score 7/10. https://www.biorxiv.org/content/10.64898/2026.04.29.721733v2
- BRCA1 — BRCA1 germline carriers — mammary precancerous states and susceptibility to epithelial-mesenchymal transition. bioRxiv 2026. doi:10.64898/2026.05.06.723061. Score 6/10. https://www.biorxiv.org/content/10.64898/2026.05.06.723061v1
- Lynch — Lynch syndrome — integrative epidemiological cohort (genetics, environment, penetrance). Fam Cancer 2026. PMID 42089916. Score 6/10. https://link.springer.com/article/10.1007/s10689-026-00552-5