Cancer genetics

Week of 20 October 2026

9 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►DDX41 — Among 1,514 transplanted MDS patients, germline carriers (3.2%) relapse less at 2 years (17% vs 34%), with better disease-free survival (HR 0.62).
►MLH1/MSH2 — Under colonoscopy, 10-year colorectal cancer risk of 7.9% in male MLH1 carriers vs 4.0% for MSH2; only MSH2 carriers benefit from more frequent colonoscopies.
►FH — HLRCC uterine leiomyomas: only 0.6% of 410 patients had germline testing before the gynaecological diagnosis, despite a suggestive family history in 88.8%.
►BRCA1/BRCA2 — PERSONA-Ovary: germline variant in 29.7% of 320 patients; the tumour-first strategy misses two germline carriers.
►MMR genes — In a Korean cohort of 5,829 patients, only 46.0% of MMR gene carriers had a post-test clinical action, versus 84.3% for BRCA1/BRCA2.
►VHL — In 535 Russian patients, an isolated clear-cell renal carcinoma has a positive predictive value of only 14.7% for a causative variant.
►POT1 — Haplotype-resolved nanopore sequencing shows that telomeres from both parents are elongated in carriers, supporting genetic anticipation.

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Germline DDX41 defines a distinct subgroup in MDS undergoing transplantation with reduced relapse and improved survival.

Myelodysplastic neoplasms (MDS) with a germline DDX41 variant

Germline predisposition

Blood 2026· OctRead

Uterine leiomyomas in HLRCC: a scoping review of presentation, histopathology, treatment patterns, and reproductive implications.

Hereditary leiomyomatosis and renal cell cancer (HLRCC): uterine leiomyomas

Eur J Hum Genet 2026· OctRead

Real-World Germline Variant Landscape and Clinical Management in Korean Patients Tested for Suspected Hereditary Cancer.

Hereditary cancer predisposition (mainly breast and ovarian)

VUS reclassified

Cancer Sci 2026· OctRead

Clinical implications of germline and somatic genetic testing in ovarian carcinoma: BRCA and beyond. The PERSONA-Ovary trial.

Ovarian carcinoma

Gynecol Oncol 2026· OctRead

Autosomal dominantPubMed

Clinical and Genetic Characterization of Russian Patients with von Hippel-Lindau Syndrome.

Von Hippel-Lindau syndrome

Recurrent variant

Int J Mol Sci 2026· OctRead

Colonoscopy screening outcomes in Lynch syndrome and differential colorectal cancer paths among MLH1/MSH2 carriers.

Lynch syndromePenetrance update

J Natl Cancer Inst 2026· OctRead

Polygenic risk score

Melanoma germline genetics: immune, cancer driver, and Wnt signaling genes

Cutaneous melanoma

Polygenic risk score

medRxiv 2026· OctRead

ATM, BARD1, CHEK2, RAD51C, RAD51D

Moderate-risk variants in hereditary breast and ovarian cancer: seven-year experience from a specialized center.

Hereditary breast and ovarian cancer (HBOC)

Breast cancerProphylactic surgery

Fam Cancer 2026· OctRead

Telomere length of both parents contributes to heritable POT1 cancer-predisposition syndrome.

POT1 cancer-predisposition syndrome

Long-read sequencing

Nat Commun 2026· SepRead

References and sources

DDX41 — Myelodysplastic neoplasms (MDS) with a germline DDX41 variant. Blood 2026. PMID 42868258. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42868258/
MLH1, MSH2 — Lynch syndrome. J Natl Cancer Inst 2026. PMID 42895288. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42895288/
FH — Hereditary leiomyomatosis and renal cell cancer (HLRCC): uterine leiomyomas. Eur J Hum Genet 2026. PMID 42888221. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42888221/
BRCA1, BRCA2 — Hereditary cancer predisposition (mainly breast and ovarian). Cancer Sci 2026. PMID 42887902. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42887902/
BRCA1, BRCA2 — Ovarian carcinoma. Gynecol Oncol 2026. PMID 42887399. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42887399/
VHL — Von Hippel-Lindau syndrome. Int J Mol Sci 2026. PMID 42884048. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42884048/
Cutaneous melanoma. medRxiv 2026. doi:10.64898/2026.10.14.26365068. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.10.14.26365068v1
ATM, BARD1, CHEK2, RAD51C, RAD51D — Hereditary breast and ovarian cancer (HBOC). Fam Cancer 2026. PMID 42878904. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42878904/
POT1 — POT1 cancer-predisposition syndrome. Nat Commun 2026. PMID 42875414. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42875414/

13 October 2026