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Cancer genetics
Week of 3 June 2026
11 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►CEBPA — germline variant location (TAD2 vs non-TAD2 domain) predicts age at onset and prognosis of familial AML.
- ►HRDetect — WGS signatures identify non-BRCA HRD patients as PARP inhibitor candidates in ovarian cancer.
- ►Lynch — Nous-209 target mutations are present from early MSI precancerous adenomas, validating the preventive vaccine approach.
- ►BRCA1/2 — BCS+RT vs mastectomy: real-world comparative data in young BRCA carriers.
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CEBPA
Autosomique dominantPubMedLocation matters: topography of germline CEBPA variants in familial acute myeloid leukaemia.
Familial acute myeloid leukaemia with germline CEBPA variants
8
/10
Penetrance updateRecurrent variant
J Med Genet 2026· MayRead
BRCA1
PubMedHRDetect in Tubo-ovarian Carcinoma: Stratification and Therapeutic Implications.
Tubo-ovarian carcinoma — HRD stratification and PARP inhibitor implications
8
/10
Breast cancerPARP inhibitorNew recommendation
Clin Cancer Res 2026· MayRead
Breast chemoprevention — noninvasive neoplasia and high-risk lesions
PubMedLow-Dose Tamoxifen in Noninvasive Breast Neoplasia: Long-Term Results From an Individual-Participant Data Pooled Analysis.
Breast chemoprevention — noninvasive neoplasia and high-risk lesions
7
/10
New recommendation
J Clin Oncol 2026· MayRead
Lynch syndrome
PubMedMutations Targeted by Nous-209 Immunotherapy Occur Early in Lynch Syndrome Carriers' Precancer Lesions with Microsatellite Instability.
Lynch syndrome — immunoprevention, MSI precancerous lesions
7
/10
Lynch syndromeNew recommendationMainstreaming
Cancer Prev Res 2026· JunRead
BRCA1
PubMedRadiation therapy management in BRCA1/2 carriers diagnosed with early breast cancer: An international cohort study.
Early breast cancer in BRCA1/2 carriers — radiotherapy vs mastectomy
7
/10
Breast cancerPenetrance update
Radiother Oncol 2026· JunRead
BRCA1
PubMedAssociation of high and moderate penetrance monogenic variants, polygenic risk, and family history with breast cancer in an ancestrally diverse population.
Breast cancer — integration of monogenic variants, polygenic risk score, and family history in a diverse population
6
/10
Breast cancerPenetrance updateMainstreaming
Cancer Genet 2026· JunRead
Lynch syndrome
PubMedOutcomes of multigene panel testing for hereditary cancer in two Israeli medical centers 2013-2024.
Oncogenetics — real-world multigene panel testing outcomes over 11 years
6
/10
Lynch syndromeMainstreaming
Cancer Genet 2026· JunRead
BRCA1
PubMedImpact of Ethnicity on the Uptake of Risk Reducing Mastectomy in Unaffected BRCA1/2 and PALB2 Carriers in Canada.
Risk-reducing mastectomy in BRCA1/2 and PALB2 carriers — ethnicity impact on uptake
6
/10
Breast cancerProphylactic surgery
Ann Surg Oncol 2026· JunRead
Lynch syndrome
PubMedMismatch Repair Deficiency in Benign and Atypical Ocular Sebaceous Neoplasms: Implications for Muir-Torre Screening and Classification.
Muir-Torre syndrome (Lynch) — benign and atypical ocular sebaceous neoplasms
6
/10
Lynch syndromeMainstreaming
Am J Ophthalmol 2026· JunRead
RB1
Autosomique dominantPubMedSpectrum of Germline Cytogenomic Alterations in RB1 in Mexican Patients With Retinoblastoma.
Retinoblastoma — germline RB1 cytogenomic spectrum in Mexican patients
5
/10
Recurrent variant
Pediatr Blood Cancer 2026· JunRead
TP53
PubMedProton therapy in young breast cancer patients with germline TP53 and ATM mutations: a case series.
Breast cancer — proton therapy in carriers of germline TP53 and ATM mutations
5
/10
Breast cancerProphylactic surgery
Strahlenther Onkol 2026· JunRead
References and sources
- CEBPA — Familial acute myeloid leukaemia with germline CEBPA variants. J Med Genet 2026. PMID 42209215. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42209215/
- Breast chemoprevention — noninvasive neoplasia and high-risk lesions. J Clin Oncol 2026. PMID 42218652. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42218652/
- BRCA1 — Tubo-ovarian carcinoma — HRD stratification and PARP inhibitor implications. Clin Cancer Res 2026. PMID 42201779. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42201779/
- Lynch syndrome — immunoprevention, MSI precancerous lesions. Cancer Prev Res 2026. PMID 42108525. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42108525/
- BRCA1 — Early breast cancer in BRCA1/2 carriers — radiotherapy vs mastectomy. Radiother Oncol 2026. PMID 41941938. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41941938/
- RB1 — Retinoblastoma — germline RB1 cytogenomic spectrum in Mexican patients. Pediatr Blood Cancer 2026. PMID 41889259. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/41889259/
- BRCA1 — Breast cancer — integration of monogenic variants, polygenic risk score, and family history in a diverse population. Cancer Genet 2026. PMID 41855952. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41855952/
- Oncogenetics — real-world multigene panel testing outcomes over 11 years. Cancer Genet 2026. PMID 41819754. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41819754/
- BRCA1 — Risk-reducing mastectomy in BRCA1/2 and PALB2 carriers — ethnicity impact on uptake. Ann Surg Oncol 2026. PMID 41811390. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41811390/
- Muir-Torre syndrome (Lynch) — benign and atypical ocular sebaceous neoplasms. Am J Ophthalmol 2026. PMID 41720232. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41720232/
- TP53 — Breast cancer — proton therapy in carriers of germline TP53 and ATM mutations. Strahlenther Onkol 2026. PMID 40353857. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/40353857/