Cancer genetics

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Cancer genetics

Week of 27 May 2026

13 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►BRCA2 c.7847C>T — VUS → Pathogenic in the Japanese population: cosegregation + 3 functional assays, PARP inhibitor access unlocked.
►Lynch syndrome — colonoscopy reduces CRC mortality but insufficiently prevents incidence: accelerated MMR tumorigenesis bypasses conventional precursors.
►VHL co-mutation — 42.6% of VHL patients carry a co-mutation: higher RCC penetrance and faster tumor growth.
►POT1/TINF2/ACD — germline telomere variants are mutually exclusive from somatic TERT variants in thyroid cancer and melanoma.

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Autosomique dominantPubMed

Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in Japanese hereditary breast and ovarian cancer.

Hereditary breast and ovarian cancer (HBOC)

Li-Fraumeni / TP53VUS reclassified

J Med Genet 2026· MayRead

Colonoscopy surveillance in Lynch syndrome: what it prevents and what it does not.

Lynch syndrome (HNPCC) — effectiveness of colonoscopic surveillance

Lynch syndromePenetrance update

J Med Genet 2026· MayRead

Autosomique dominantmedRxiv

Telomere maintaining germline and somatic variants in thyroid cancer and melanoma

Hereditary cancer predisposition via long-telomere syndrome (POT1, TINF2, ACD) — non-medullary thyroid cancer and melanoma

Recurrent variantPenetrance update

medRxiv 2026· MayRead

Autosomique dominantPubMed

Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome.

Von Hippel-Lindau syndrome with hereditary clear cell renal cell carcinoma

Recurrent variantPenetrance update

J Med Genet 2026· MayRead

Autosomique dominantPubMed

Genotypic and phenotypic characteristics of germline TP53 variant carriers: experience from two cancer genetic counseling units.

Li-Fraumeni syndrome

Li-Fraumeni / TP53Recurrent variantPenetrance update

Fam Cancer 2026· MayRead

Cancer Spectrum and Gene-Specific Patterns in Lynch Syndrome: Insights From 47 Families in a Brazilian Institutional Cohort.

Lynch syndrome — gene-specific tumor spectrum (Brazilian cohort)

Lynch syndromePenetrance update

JCO Glob Oncol 2026· MayRead

Low-grade mosaicism in tumor predisposition syndromes (VHL, NF1, NF2)

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.

Low-grade mosaicism in tumor predisposition syndromes (VHL, NF1, NF2)

Recurrent variantMainstreaming

J Med Genet 2026· MayRead

Recent advances in genetic predisposition to primary testicular tumors.

Genetic predisposition to primary testicular tumors (germ cell and stromal)

Penetrance update

Semin Diagn Pathol 2026· MayRead

Pancreatic cystic lesions in hereditary cancer predisposition syndromes

Pancreatic cystic lesions in hereditary syndromes: Diagnostic role of endoscopic ultrasound.

Pancreatic cystic lesions in hereditary cancer predisposition syndromes

New recommendation

Best Pract Res Clin Gastroenterol 2026· MarRead

Autosomique dominantPubMed

Hereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One Family.

Von Hippel-Lindau disease type 2 with pediatric pheochromocytoma

Recurrent variantPenetrance update

J Clin Res Pediatr Endocrinol 2026· MayRead

Autosomique récessif (MUTYH) + autosomique dominant (PALB2)medRxiv

Differential causative effects of germline pathogenic variants in MUTYH and PALB2 in a patient with colorectal polyposis and breast cancer

MINAS (Multi-locus Inherited Neoplasia Allele Syndrome) — biallelic MUTYH + heterozygous PALB2

medRxiv 2026· MayRead

Germline variants predictive of exceptional response to cancer treatments

Rare Germline Variants in Immune and Drug Target Genes Among Cancer Exceptional Responders

Germline variants predictive of exceptional response to cancer treatments

Recurrent variant

medRxiv 2026· MayRead

Autosomique dominantmedRxiv

Targeted BRCA1/BRCA2 Sequencing in a Bangladeshi Clinically Referred Cohort Identifies Candidate BRCA1 Loss-of-Function Variants and a Multi-Exon Deletion-Like CNV Signal

Hereditary breast and ovarian cancer (HBOC) — Bangladeshi population

Breast cancerRecurrent variant

medRxiv 2026· MayRead

References and sources

BRCA2 — Hereditary breast and ovarian cancer (HBOC). J Med Genet 2026. PMID 41856558. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41856558/
Lynch syndrome (HNPCC) — effectiveness of colonoscopic surveillance. J Med Genet 2026. PMID 41825943. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41825943/
VHL — Von Hippel-Lindau syndrome with hereditary clear cell renal cell carcinoma. J Med Genet 2026. PMID 41856557. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41856557/
TP53 — Li-Fraumeni syndrome. Fam Cancer 2026. PMID 42171906. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42171906/
Lynch syndrome — gene-specific tumor spectrum (Brazilian cohort). JCO Glob Oncol 2026. PMID 42160694. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42160694/
CHEK2 — Genetic predisposition to primary testicular tumors (germ cell and stromal). Semin Diagn Pathol 2026. PMID 42151003. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42151003/
Pancreatic cystic lesions in hereditary cancer predisposition syndromes. Best Pract Res Clin Gastroenterol 2026. PMID 42167859. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42167859/
VHL — Von Hippel-Lindau disease type 2 with pediatric pheochromocytoma. J Clin Res Pediatr Endocrinol 2026. PMID 39311599. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/39311599/
POT1 — Hereditary cancer predisposition via long-telomere syndrome (POT1, TINF2, ACD) — non-medullary thyroid cancer and melanoma. medRxiv 2026. doi:10.64898/2026.05.22.26353814. Score 7/10. https://www.medrxiv.org/content/10.64898/2026.05.22.26353814v1
PALB2 — MINAS (Multi-locus Inherited Neoplasia Allele Syndrome) — biallelic MUTYH + heterozygous PALB2. medRxiv 2026. doi:10.64898/2026.05.15.26352890. Score 5/10. https://www.medrxiv.org/content/10.64898/2026.05.15.26352890v1
Germline variants predictive of exceptional response to cancer treatments. medRxiv 2026. doi:10.64898/2026.05.14.26352838. Score 5/10. https://www.medrxiv.org/content/10.64898/2026.05.14.26352838v1
BRCA1 — Hereditary breast and ovarian cancer (HBOC) — Bangladeshi population. medRxiv 2026. doi:10.64898/2026.05.11.26352643. Score 5/10. https://www.medrxiv.org/content/10.64898/2026.05.11.26352643v1
Low-grade mosaicism in tumor predisposition syndromes (VHL, NF1, NF2). J Med Genet 2026. PMID 41702693. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41702693/