Full archive
Cancer genetics
Week of 6 May 2026
12 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►ATM VUS — 90% of FATKIN missense VUS reclassified by pKAP1 + ACMG assay: major advance for the management of ATM carriers.
- ►BRCA1/BRCA2 BCY cohort — truncating BRCA1 variants associated with worse overall survival (HR 2.0); exonic location of BRCA2 variants impacts DFS — new prognostic granularity.
- ►BRCA1/BRCA2 risk-reducing mastectomy (JCO) — 94% incidence reduction but equivalent survival vs surveillance: reinforces shared decision-making approach.
- ►ESMO 2026 — 7-gene panel for breast cancer mainstreaming: BRCA1, BRCA2, PALB2, RAD51C, RAD51D, BRIP1, TP53 (<40 yrs); ATM and CHEK2 excluded for equivocal mortality benefit.
- ►PARTNER trial — neoadjuvant olaparib for BRCA1/BRCA2: similar pCR but improved 36-month survival (96% vs 80%, p=0.04) — signal awaiting confirmation.
- ►CTNNA1 germline LOF → HDGC spectrum: new CDH1-like gene for hereditary diffuse gastric cancer, lifetime risk 49–57%.
- ►WGS for undiagnosed hereditary cancer predispositions: 24% diagnostic yield in a European cohort with prior negative WES.
- ►TP53 p.R337H Brazilian founder variant — 1 in 300 carriers in populations of European colonial ancestry; argument for targeted population screening.
Category:
Filters··Min. score
12 articles of 12
Sort
ATM
ADPubMed★ Top pick
Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework
Hereditary predisposition to breast and pancreatic cancer (moderate penetrance)
9
/10
Breast cancerVUS reclassifiedFunctional SNV
Clinical Cancer Research, 2025· JunRead
BRCA1
ADPubMedAssociation between type and location of germline BRCA1/2 pathogenic or likely pathogenic variants with phenotype and prognosis in young patients with breast cancer
Hereditary breast cancer (HBOC) in young patients (≤40 years)
8
/10
Breast cancerPenetrance update
Annals of Oncology, 2026· MarRead
CTNNA1
ADPubMedHereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular comprehensive analysis
Hereditary diffuse gastric cancer (HDGC) spectrum — CTNNA1-related
8
/10
Gastric cancerNew genePenetrance update
Gut, 2026· AprRead
WGS Diagnostic Yield
PubMedGenome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Clinical Impact
Hereditary cancer predispositions — undiagnosed after WES
8
/10
New recommendation
JCO Precision Oncology, 2026· AprRead
BRCA1
ADPubMedSurvival Outcomes With or Without Risk-Reducing Mastectomy in BRCA1 and BRCA2 Pathogenic Variant Carriers
HBOC — Hereditary breast cancer (primary prevention)
7
/10
Breast cancerProphylactic surgery
Journal of Clinical Oncology, 2026· AprRead
BRCA2
ADPubMedSurgical Outcomes After Risk-Reducing Mastectomy Among BRCA1 and BRCA2 Carriers
HBOC — surgical safety data for risk-reducing mastectomy
7
/10
Breast cancerProphylactic surgery
JAMA Network Open, 2026· AprRead
BRCA1
ADPubMedBreast cancer germline multigene panel testing in mainstream oncology based on clinical-public health utility: ESMO Precision Oncology Working Group recommendations
Hereditary breast cancer — definition of the mainstream oncology testing panel
7
/10
Germline predispositionNew recommendationMainstreaming
Annals of Oncology, 2025· AugRead
BRCA2
ADPubMedNeoadjuvant PARP inhibitor scheduling in BRCA1 and BRCA2 related breast cancer: PARTNER, a randomized phase II/III trial
gBRCA1/2 breast cancer, early stage (triple negative or luminal)
7
/10
Breast cancerPARP inhibitor
Nature Communications, 2025· MayRead
TP53
ADPubMedEuropean Colonial Echoes in Cancer Risk: Lessons from the TP53 p.R337H Founder Variant in Brazil
Li-Fraumeni syndrome (attenuated) — pan-cancer predisposition
7
/10
Li-Fraumeni / TP53Recurrent variantPenetrance update
Cancer Epidemiology, Biomarkers & Prevention, 2026· FebRead
MLH1
ADPubMedGene-specific cancer risks in female Lynch syndrome carriers: A copula-based meta-analysis
Lynch syndrome — gene-specific cancer risks in female carriers
7
/10
Lynch syndromePenetrance update
Maturitas, 2026· MarRead
BRCA1
ADPubMedACT-ON: Assisted cascade testing via outreach and navigation - Real-world experience with clinician-initiated, third-party-facilitated family cascade testing
Hereditary cancer predisposition — cascade testing implementation
7
/10
Mainstreaming
Gynecologic Oncology, 2026· AprRead
BRCA1
ADPubMedPrevalence of BRCA1 and BRCA2 Variants in an Unselected Population of Women With Breast Cancer
Breast cancer — prevalence and ethnic disparities of BRCA1/2 variants
6
/10
Mainstreaming
JAMA Network Open, 2025· SepRead
References and sources
- ATM — Hereditary predisposition to breast and pancreatic cancer (moderate penetrance). Clinical Cancer Research, 2025. PMID 40105422. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/40105422/
- BRCA1 — Hereditary breast cancer (HBOC) in young patients (≤40 years). Annals of Oncology, 2026. PMID 41260260. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41260260/
- BRCA1 — HBOC — Hereditary breast cancer (primary prevention). Journal of Clinical Oncology, 2026. PMID 41637687. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41637687/
- BRCA2 — HBOC — surgical safety data for risk-reducing mastectomy. JAMA Network Open, 2026. PMID 41931296. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41931296/
- BRCA1 — Hereditary breast cancer — definition of the mainstream oncology testing panel. Annals of Oncology, 2025. PMID 40523834. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/40523834/
- BRCA2 — gBRCA1/2 breast cancer, early stage (triple negative or luminal). Nature Communications, 2025. PMID 40360463. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/40360463/
- CTNNA1 — Hereditary diffuse gastric cancer (HDGC) spectrum — CTNNA1-related. Gut, 2026. PMID 40998418. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/40998418/
- WGS Rendement Diag. — Hereditary cancer predispositions — undiagnosed after WES. JCO Precision Oncology, 2026. PMID 41990296. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41990296/
- TP53 — Li-Fraumeni syndrome (attenuated) — pan-cancer predisposition. Cancer Epidemiology, Biomarkers & Prevention, 2026. PMID 41630583. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41630583/
- MLH1 — Lynch syndrome — gene-specific cancer risks in female carriers. Maturitas, 2026. PMID 41604823. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41604823/
- BRCA1 — Hereditary cancer predisposition — cascade testing implementation. Gynecologic Oncology, 2026. PMID 42000374. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42000374/
- BRCA1 — Breast cancer — prevalence and ethnic disparities of BRCA1/2 variants. JAMA Network Open, 2025. PMID 40952741. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/40952741/