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Cancer genetics
Week of 16 June 2026
10 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►TP53 hypomorphic — Biology and clinical implications of hypomorphic TP53 variants: an intermediate spectrum between classic LFS and no risk, requiring tailored management.
- ►BRCA1 methylation — Constitutional BRCA1 promoter methylation as an ovarian cancer risk biomarker: a sequencing panel blind spot not to overlook.
- ►MLH1 — Functional reclassification of the MLH1 c.2054 C>T variant and development of digital PCR detection in Lynch syndrome.
- ►Lynch sarcomas — Universal MMR-IHC screening recommended for pleomorphic rhabdomyosarcoma, uterine leiomyosarcoma, and undifferentiated sarcomas.
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TP53
Autosomal dominantPubMed★ Top pick
The biology of hypomorphic TP53 variants and implications for clinical management.
Li-Fraumeni syndrome / hypomorphic TP53 variants
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/10
Li-Fraumeni / TP53VUS reclassifiedNew recommendation
Clin Cancer Res 2026· JunRead
BRCA1
PubMed★ Top pick
Constitutional BRCA1 promoter methylation as a biomarker for ovarian cancer risk.
Hereditary ovarian cancer / constitutional BRCA1 epimutation
0
/10
New mechanism
JCO Precis Oncol 2026· JunRead
TP53
Autosomal dominantPubMedA zero-parameter framework for accurate TP53 missense variant functional classification.
TP53 missense variant functional classification / Li-Fraumeni syndrome
0
/10
VUS reclassifiedFunctional SNV
PLoS Comput Biol 2026· JunRead
MLH1
Autosomal dominantPubMedThe germline MLH1 c.2054 C>T mutation disrupts DNA mismatch repair and is detectable by digital PCR.
Lynch syndrome
0
/10
Lynch syndromeFunctional SNVVUS reclassified
Cancer Lett 2026· JunRead
BRCA2
PubMedThe 'Prostate Cancer Screening for People at Genetic Risk of Aggressive Disease' (PATROL) study.
Hereditary prostate cancer predisposition
0
/10
New recommendationPenetrance update
BJU Int 2026· JunRead
BRCA2
PubMedComprehensive analysis of BRCA1/2 germline mutations in high-grade prostate cancer among Arab patients.
Hereditary prostate cancer / BRCA1/2
0
/10
Penetrance updateRecurrent variant
Front Cell Dev Biol 2026· JanRead
DICER1
Autosomal dominantPubMedDICER1 Syndrome and Tumor Pathology: An Updated Review for Diagnostic Practice.
DICER1 syndrome / tumor predisposition
0
/10
Phenotypic expansion
Adv Anat Pathol 2026· JunRead
TP53
Autosomal dominantPubMedInterpreting TP53 pathogenic variants: diagnostic complexities of mosaic and germline variants.
Li-Fraumeni syndrome / mosaic TP53 variants
0
/10
Li-Fraumeni / TP53VUS reclassified
J Med Genet 2026· JunRead
VHL
PubMedHereditary kidney tumor syndromes: structured evaluation of a questionnaire-based approach.
Hereditary renal tumor predisposition syndromes (VHL, TSC, BHD, HLRCC)
0
/10
New recommendation
Clin Kidney J 2026· JunRead
MSH2
Autosomal dominantPubMedClinicopathologic Study of 39 Mismatch Repair-deficient Sarcomas Demonstrates Recurrent Histologic Patterns and Supports Universal Screening of Pleomorphic Rhabdomyosarcoma, Uterine Leiomyosarcoma, and Undifferentiated Sarcomas.
Lynch syndrome / MMR-deficient sarcomas
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/10
Lynch syndromeNew recommendationMainstreaming
Am J Surg Pathol 2026· JunRead
References and sources
- TP53 — Li-Fraumeni syndrome / hypomorphic TP53 variants. Clin Cancer Res 2026. PMID 42283722. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42283722/
- BRCA1 — Hereditary ovarian cancer / constitutional BRCA1 epimutation. JCO Precis Oncol 2026. PMID 42284542. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42284542/
- MLH1 — Lynch syndrome. Cancer Lett 2026. PMID 42269807. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42269807/
- BRCA2 — Hereditary prostate cancer predisposition. BJU Int 2026. PMID 42265755. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42265755/
- BRCA2 — Hereditary prostate cancer / BRCA1/2. Front Cell Dev Biol 2026. PMID 42272637. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42272637/
- DICER1 — DICER1 syndrome / tumor predisposition. Adv Anat Pathol 2026. PMID 42262359. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42262359/
- TP53 — Li-Fraumeni syndrome / mosaic TP53 variants. J Med Genet 2026. PMID 42264930. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42264930/
- VHL — Hereditary renal tumor predisposition syndromes (VHL, TSC, BHD, HLRCC). Clin Kidney J 2026. PMID 42293364. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42293364/
- MSH2 — Lynch syndrome / MMR-deficient sarcomas. Am J Surg Pathol 2026. PMID 42281350. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42281350/
- TP53 — TP53 missense variant functional classification / Li-Fraumeni syndrome. PLoS Comput Biol 2026. PMID 42275441. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42275441/