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Cancer genetics
Week of 25 August 2026
9 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►TP53 — telling germline variants from clonal haematopoiesis before diagnosing Li-Fraumeni syndrome.
- ►Hereditary renal cell carcinoma: only 61.5% of carriers met the clinical criteria for their own syndrome.
- ►OlympiA — survival benefit sustained at 6.1 years with adjuvant olaparib in germline BRCA1/BRCA2 carriers.
- ►NF1 — cherry angiomas as a frequent vascular manifestation, with a somatic second hit in endothelial cells.
9 articles of 9
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TP53
Autosomal dominantPubMed★ Top pick
⭐ À la une
Shared inheritance reveals landscape of somatic and germline cancer risk in TP53.
Li-Fraumeni syndrome and clonal haematopoiesis
10
Li-Fraumeni / TP53Penetrance updateVUS reclassified
Am J Hum Genet 2026· AugRead
FLCN
PubMed★ Top pick
Expanding the phenotype of hereditary renal cell carcinoma syndromes: Implications for surveillance and management.
Hereditary renal cell carcinoma syndromes
9
Phenotypic expansionVUS reclassified
J Natl Cancer Inst 2026· AugRead
BRCA1/2
Autosomal dominantPubMed★ Top pick
Sustained benefit of adjuvant olaparib in women with germline BRCA1- and BRCA2-associated high-risk HER2-negative early breast cancer: Updated results from the OlympiA phase III trial.
High-risk HER2-negative early breast cancer with a germline BRCA1 or BRCA2 variant
9
Breast cancerPARP inhibitor
Ann Oncol 2026· AugRead
CHEK2
PubMedThe pleiotropic landscape of rare variant associations with multiple cancers in large biobanks.
Inherited predisposition to multiple cancers
8
Phenotypic expansionPenetrance update
HGG Adv 2026· AugRead
NF1
Autosomal dominantPubMedCherry Angiomas in Individuals With Neurofibromatosis Type 1.
Neurofibromatosis type 1
8
Phenotypic expansionFunctional SNV
JAMA Dermatol 2026· AugRead
APC
Autosomal dominantPubMedIdentification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.
Familial adenomatous polyposis
6
Hum Mutat 2026· AugRead
Hereditary adrenal and extra-adrenal paragangliomas
PubMedComprehensive Genomic Analysis in Hereditary Adrenal and Extra-Adrenal Paragangliomas.
Hereditary adrenal and extra-adrenal paragangliomas
6
VUS reclassified
Endocr Pathol 2026· AugRead
BRCA1/2
Autosomal dominantPubMedDecision coaching for healthy women with BRCA1/2 pathogenic variants and open family planning: Impact on decisional conflict and decision status: Subgroup analyses from a randomized controlled trial.
Hereditary breast and ovarian cancer predisposition
6
Prophylactic surgery
PLoS One 2026· AugRead
NF2
Autosomal dominantPubMedManagement strategies for vestibular schwannomas in patients with NF2-related schwannomatosis: a systematic review.
NF2-related schwannomatosis
5
Eur Arch Otorhinolaryngol 2026· AugRead
References and sources
- TP53 — Li-Fraumeni syndrome and clonal haematopoiesis. Am J Hum Genet 2026. PMID 42607671. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42607671/
- FLCN — Hereditary renal cell carcinoma syndromes. J Natl Cancer Inst 2026. PMID 42635527. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42635527/
- CHEK2 — Inherited predisposition to multiple cancers. HGG Adv 2026. PMID 42619260. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42619260/
- BRCA1/2 — High-risk HER2-negative early breast cancer with a germline BRCA1 or BRCA2 variant. Ann Oncol 2026. PMID 42636977. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42636977/
- APC — Familial adenomatous polyposis. Hum Mutat 2026. PMID 42621862. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42621862/
- NF1 — Neurofibromatosis type 1. JAMA Dermatol 2026. PMID 42616496. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42616496/
- Hereditary adrenal and extra-adrenal paragangliomas. Endocr Pathol 2026. PMID 42635851. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42635851/
- NF2 — NF2-related schwannomatosis. Eur Arch Otorhinolaryngol 2026. PMID 42625018. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42625018/
- BRCA1/2 — Hereditary breast and ovarian cancer predisposition. PLoS One 2026. PMID 42607047. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42607047/
