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Cancer genetics
Week of 27 October 2026
12 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►eREACH2 trial (773 participants) — digital pre-test counselling is non-inferior to a genetic counsellor, but digital disclosure of a positive or uncertain result increases negative response to testing.
- ►DDX41 — Among 8,465 Spanish allogeneic transplants, donor-derived neoplasms are markedly more frequent after a related donor (0.41% vs 0.06%); 10 of 33 cases stem from germline predisposition, 7 of them DDX41.
- ►TP53/NF1 — Across 3,569 sarcomas and 21,788 controls, no novel susceptibility gene despite 80% power for a relative risk of ≥5.
- ►BRCA1/BRCA2 — 3.0% occult lesions (STIC or high-grade serous carcinoma) at risk-reducing salpingo-oophorectomy in 329 Czech carriers.
- ►Health economics — 76.6% of 47 economic evaluations with a willingness-to-pay threshold find germline cancer predisposition testing cost-effective or cost-saving.
12 articles of 12
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Germline predisposition
PubMedA Randomized Non-Inferiority Trial of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eREACH2).
Hereditary cancer predisposition: genetic counselling
7
Germline predisposition
medRxiv 2026· SepRead
Germline predisposition
PubMedThe Economic Value of Hereditary Cancer Testing: A Systematic Review.
Hereditary cancer predisposition: health economic evaluation
7
Germline predisposition
Genet Med 2026· OctRead
TP53, NF1
PubMedExome-wide analysis of rare deleterious variants in 3,569 sarcoma cases and 21,788 controls from multiple international data sources reveals no novel susceptibility genes.
Sarcoma
7
Germline predisposition
Genet Med 2026· OctRead
DDX41, CEBPA, CHEK2
PubMedMolecular Underpinnings and Prevalence of Donor Cell-Derived Hematologic Neoplasms among Spanish Transplantation Centers.
Donor cell-derived hematologic neoplasms (DDHN) after allogeneic transplantation
6
Germline predisposition
Blood 2026· OctRead
BRCA1, BRCA2
PubMedOccult serous tubal intraepithelial carcinoma and high-grade serous carcinoma at risk-reducing salpingo-oophorectomy in BRCA1/2 carriers: A Czech two-center cohort.
Hereditary breast and ovarian cancer (HBOC): risk-reducing salpingo-oophorectomy
6
Prophylactic surgery
Int J Gynaecol Obstet 2026· OctRead
BRCA1, BRCA2
PubMedAdjuvant olaparib for patients with germline BRCA-mutated, high-risk, HER2-negative early breast cancer: real-world data from a French early access program.
High-risk HER2-negative early breast cancer with a germline BRCA1/BRCA2 variant
6
Breast cancerPARP inhibitor
ESMO Real World Data Digit Oncol 2026· SepRead
SDHB, SDHA, SDHD
PubMedGermline Pathogenic Variants in Succinate Dehydrogenase Genes: Implications from a Single Institution Study.
Hereditary pheochromocytoma-paraganglioma (SDHx genes)
6
Germline predispositionPenetrance update
Endocr Oncol 2026· OctRead
Germline predisposition
PubMedDevelopment of the Children's Oncology Group long-term follow-up guideline for cancer genetics evaluation in childhood cancer survivors.
Cancer predisposition syndromes in childhood cancer survivors
6
Germline predispositionNew recommendation
Lancet Oncol 2026· OctRead
Germline predisposition
PubMedJapanese Society for Hereditary Tumors Guidance: Hereditary Cancer Syndromes With Multigene Panel Testing, 2025 Edition.
Hereditary cancer syndromes: multigene panel testing
5
Germline predispositionNew recommendation
Cancer Sci 2026· OctRead
BRCA1, PALB2
PubMedPatient-derived separation-of-function mutations reveal specific role for BRCA1 coiled coil domain in genome stability.
BRCA1-related hereditary cancer predisposition
5
Breast cancerFunctional SNV
Nat Commun 2026· SepRead
BRCA1, BRCA2
PubMedPrevalence and spectrum of variants in homologous recombination repair genes in ovarian cancer in Latin America: a systematic review and meta-analysis.
Ovarian cancer in Latin America
5
Recurrent variant
AJOG Glob Rep 2026· SepRead
BRCA1
PubMedComprehensive Analysis of Breast Cancer in Very Young Women (<35 years), a Single Institution Experience.
Breast cancer in very young women (35 years or younger)
4
Breast cancer
Hum Pathol 2026· OctRead
References and sources
- Hereditary cancer predisposition: genetic counselling. medRxiv 2026. PMID 42922808. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42922808/
- Hereditary cancer predisposition: health economic evaluation. Genet Med 2026. PMID 42924496. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42924496/
- TP53, NF1 — Sarcoma. Genet Med 2026. PMID 42910509. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42910509/
- DDX41, CEBPA, CHEK2 — Donor cell-derived hematologic neoplasms (DDHN) after allogeneic transplantation. Blood 2026. PMID 42932250. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42932250/
- BRCA1, BRCA2 — Hereditary breast and ovarian cancer (HBOC): risk-reducing salpingo-oophorectomy. Int J Gynaecol Obstet 2026. PMID 42897944. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42897944/
- BRCA1, BRCA2 — High-risk HER2-negative early breast cancer with a germline BRCA1/BRCA2 variant. ESMO Real World Data Digit Oncol 2026. PMID 42927328. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42927328/
- SDHB, SDHA, SDHD — Hereditary pheochromocytoma-paraganglioma (SDHx genes). Endocr Oncol 2026. PMID 42925006. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42925006/
- Cancer predisposition syndromes in childhood cancer survivors. Lancet Oncol 2026. PMID 42933447. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42933447/
- Hereditary cancer syndromes: multigene panel testing. Cancer Sci 2026. PMID 42925246. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42925246/
- BRCA1, PALB2 — BRCA1-related hereditary cancer predisposition. Nat Commun 2026. PMID 42907458. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42907458/
- BRCA1, BRCA2 — Ovarian cancer in Latin America. AJOG Glob Rep 2026. PMID 42898852. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42898852/
- BRCA1 — Breast cancer in very young women (35 years or younger). Hum Pathol 2026. PMID 42914033. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42914033/