Week of 20 May 2026
Literature review — Hereditary cancer genetics
8
curated articles
3
score ≥ 8/10
2
new genes
Key takeaways this week
- ►Pediatric oncogenetics — integrated tumor/germline profiling: 1 in 7 children with poor-prognosis cancer carries a germline predisposition variant, 63% clinically actionable.
- ►MLH1 constitutional hypermethylation — 422 patients, largest published cohort: 8 germline promoter variants including 3 novel ones, Mendelian inheritance in 5 families.
- ►Wilms tumor — 24% of Russian pediatric Wilms tumors have germline or epigenetic aberrations across 8 genes: justifies broad panel testing.
- ►ATRIP — breast + ovarian predisposition spectrum extended: OR=2.51 for ovarian cancer across two independent cohorts.
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Articles of the week
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Germline predisposition
PubMed★ Top pick
⭐ À la une
Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.
Germline cancer predisposition in poor-prognosis pediatric cancers
9
/10
Germline predispositionMainstreaming
Clinical Cancer Research 2026· MayRead
MLH1
Autosomique dominant (épimutation secondaire)PubMedClinical and Genetic Characterization of Constitutional MLH1 Promoter Hypermethylation: Implications for Lynch Syndrome Diagnosis.
Lynch syndrome due to constitutional MLH1 promoter hypermethylation
8
/10
Lynch syndromeRecurrent variantLong-read sequencing
Genetics in Medicine 2026· MayRead
WT1, TRIM28
PubMedGenetic and Epigenetic Drivers of Wilms Tumor Predisposition in Russian Pediatric Patients: A Multicenter Study.
Germline predisposition to Wilms tumor
8
/10
Germline predispositionRecurrent variant
International Journal of Molecular Sciences 2026· MayRead
BRCA2, ATM
PubMedGermline genetic testing among patients with pancreatic adenocarcinoma: A Pancreatic Cancer Action Network patient survey.
Pancreatic adenocarcinoma with germline predisposition
7
/10
Mainstreaming
Cancer 2026· MayRead
BRCA1, BRCA2, PALB2
Autosomique dominantPubMedGermline Pathogenic Variants in Breast Cancer-Predisposing Genes Among Early-Onset Female and Male Breast Cancer in Ethiopia.
Hereditary early-onset breast cancer (Ethiopia)
7
/10
Breast cancerRecurrent variant
JCO Global Oncology 2026· MayRead
MSH2, BRCA1
medRxivDiverse mediators of cancer predisposition uncovered by germline whole genome sequencing of unexplained familial cancers.
Unexplained familial cancers without known pathogenic variant
6
/10
Lynch syndromeNew geneLong-read sequencing
medRxiv 2026· MayRead
ATRIP
Autosomique dominantPubMedGermline ATRIP variants and the risk of ovarian cancer.
ATRIP-related ovarian cancer predisposition
6
/10
Breast cancerNew geneDonnées de pénétrance
Genetics in Medicine 2026· AprRead
EPAS1
PubMedExpanding the clinical tumor phenotype of the EPAS1-associated tumor syndrome.
EPAS1/HIF2α-associated tumor syndrome (Pacak-Zhuang syndrome)
5
/10
Phenotypic expansion
Journal of Clinical Endocrinology and Metabolism 2026· MayRead