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Cancer genetics
Week of 11 August 2026
9 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►NF1 — across 1,811 patients followed for 30,612 person-years, lifetime breast cancer risk reached 20.9% and remained significantly elevated beyond 50 (SIR 2.67).
- ►BRCA2 — in high-risk prostate cancer, BRCA1 or BRCA2 carriers had a 10-year overall survival of 19% versus 57%, whereas ATM carriers showed no metastatic progression.
- ►SDHC — the c.397C>T founder variant is associated with 27.3% thoracic paragangliomas, half of them adjacent to cardiac structures, and 11.1% metastatic disease.
- ►Lynch syndrome — among 208 Mexican patients with colorectal cancer, 32.2% carried a germline pathogenic variant, 22.4% of them outside the MMR genes.
- ►TP53 — five lung adenocarcinomas among 32 patients with Li-Fraumeni syndrome, at a median age of 34, two of whom did not meet the 2015 Chompret criteria.
9 articles of 9
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NF1
Autosomal dominantPubMedCancer incidence and the risk for multiple primary cancers in neurofibromatosis type 1.
Neurofibromatosis type 1 and cancer risk
8
Breast cancerPenetrance update
J Natl Cancer Inst 2026· AugRead
BRCA1
Autosomal dominantPubMedRandomized phase 2 trial of a PARP inhibitor TSL-1502 in germline BRCA-mutated, HER2-negative locally advanced/metastatic breast cancer.
HER2-negative locally advanced or metastatic breast cancer in germline BRCA carriers
6
Breast cancerPARP inhibitor
Signal Transduct Target Ther 2026· AugRead
MLH1
Autosomal dominantPubMedPerformance of PREMM5, clinical criteria, and immunohistochemistry for MMR proteins in genetic risk assessment of Mexican patients with colorectal cancer.
Lynch syndrome and hereditary colorectal cancer predisposition
6
Lynch syndromeMainstreaming
PLoS One 2026· AugRead
BRCA2
Autosomal dominantPubMedClinical impact of germline pathogenic variants in high-risk prostate cancer treated with radiotherapy.
High-risk prostate cancer and germline predisposition variants
5
Penetrance updateMainstreaming
Eur Urol Open Sci 2026· AugRead
SDHC
Autosomal dominantPubMedSDHC c.397C>T-related pheochromocytomas and paragangliomas: insights from an international study.
Pheochromocytomas and paragangliomas related to the SDHC c.397C>T founder variant
5
Li-Fraumeni / TP53Recurrent variantPenetrance update
Endocr Relat Cancer 2026· AugRead
SDHB
PubMedBiomarkers of metastatic disease in pheochromocytoma and paraganglioma.
Metastatic risk in pheochromocytoma and paraganglioma
5
Endocr Connect 2026· AugRead
EPAS1
medRxivEPAS1 adaptive loss-of-function variants as germline determinants of primary antiangiogenic TKI resistance in high-altitude hepatocellular carcinoma: a translational pharmacogenomic study.
Hepatocellular carcinoma in high-altitude-adapted populations and antiangiogenic tyrosine kinase inhibitor resistance
4
medRxiv 2026· AugRead
BRCA1
Autosomal dominantPubMedHormone replacement therapy in healthy BRCA1 and 2 mutation carriers after risk-reducing salpingo-oophorectomy: a 5 Ws and 2 Hs practitioner toolkit.
Premature surgical menopause after risk-reducing salpingo-oophorectomy in BRCA carriers
4
Prophylactic surgery
Maturitas 2026· AugRead
TP53
Autosomal dominantPubMedClinical characteristics and management of Li-Fraumeni syndrome-associated lung cancer.
Lung adenocarcinoma in Li-Fraumeni syndrome
3
Li-Fraumeni / TP53Phenotypic expansion
Lung Cancer 2026· AugRead
References and sources
- NF1 — Neurofibromatosis type 1 and cancer risk. J Natl Cancer Inst 2026. PMID 42549890. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42549890/
- BRCA1 — HER2-negative locally advanced or metastatic breast cancer in germline BRCA carriers. Signal Transduct Target Ther 2026. PMID 42572030. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42572030/
- EPAS1 — Hepatocellular carcinoma in high-altitude-adapted populations and antiangiogenic tyrosine kinase inhibitor resistance. medRxiv 2026. doi:10.64898/2026.08.05.26358954. Score 4/10. https://www.medrxiv.org/content/10.64898/2026.08.05.26358954v1
- MLH1 — Lynch syndrome and hereditary colorectal cancer predisposition. PLoS One 2026. PMID 42550852. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42550852/
- BRCA2 — High-risk prostate cancer and germline predisposition variants. Eur Urol Open Sci 2026. PMID 42565081. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42565081/
- SDHC — Pheochromocytomas and paragangliomas related to the SDHC c.397C>T founder variant. Endocr Relat Cancer 2026. PMID 42573129. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42573129/
- SDHB — Metastatic risk in pheochromocytoma and paraganglioma. Endocr Connect 2026. PMID 42554704. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42554704/
- TP53 — Lung adenocarcinoma in Li-Fraumeni syndrome. Lung Cancer 2026. PMID 42570503. Score 3/10. https://pubmed.ncbi.nlm.nih.gov/42570503/
- BRCA1 — Premature surgical menopause after risk-reducing salpingo-oophorectomy in BRCA carriers. Maturitas 2026. PMID 42575068. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42575068/
