Cancer genetics

Week of 28 July 2026

11 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►BRCA1 — a RING domain-focused functional assay allows four VUS to be reclassified.
►MSH3 — germline heterozygotes carry an increased colorectal risk via a somatic second hit.
►Fam3PRO — a single Mendelian familial risk model spanning 21 genes and 17 cancers.
►BRCA2 — shorter progression-free survival on first-line CDK4/6 inhibitors in metastatic disease.

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Autosomal dominantPubMed

Assessing the Clinical Relevance of BRCA1 RING Domain Variants of Uncertain Significance.

Hereditary breast and ovarian cancer (HBOC)

VUS reclassifiedFunctional SNV

Curr Oncol 2026· JulRead

Prostate cancer — germline predisposition

Autosomal dominantPubMed

Identifying and characterizing the germinal genetic landscape of men with prostate cancer: A real-life, retrospective, multicenter study.

Prostate cancer — germline predisposition

Genet Med Open 2026· JulRead

Autosomal dominant à pénétrance incomplète (hétérozygotes) ; autosomal recessive (formes bi-alléliques)medRxiv

Heterozygous germline MSH3 mutations, and probably MLH3 mutations, act as classical tumour suppressors, leading to excess somatic deletion mutations, signature ID4 and increased colorectal cancer risk

Hereditary colorectal cancer — MSH3 or MLH3 deficiency

Penetrance updateNew mechanism

medRxiv 2026· JulRead

Familial Risk Stratification Across Cancer Syndromes Using Fam3PRO.

Hereditary cancer predisposition — familial risk stratification

Lynch syndromeMainstreaming

Genet Med 2026· JulRead

Autosomal dominantPubMed

Clinical and surveillance outcomes of the TP53 c.1000G > C (p.Gly334Arg) variant.

Attenuated Li-Fraumeni syndrome — TP53 p.Gly334Arg variant

Li-Fraumeni / TP53Penetrance updateRecurrent variant

Fam Cancer 2026· JulRead

Autosomal dominantPubMed

Impact of BRCA2 pathogenic variants on outcomes to first-line CDK4/6 inhibitors plus endocrine therapy in HR-positive/HER2-negative metastatic breast cancer.

HR-positive/HER2-negative metastatic breast cancer in BRCA2 carriers

Breast cancerTherapeutic implication

ESMO Open 2026· JulRead

Hereditary breast and ovarian cancer — healthy relatives

Autosomal dominantPubMed

Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia.

Hereditary breast and ovarian cancer — healthy relatives

Front Genet 2026· JulRead

Germline Variants in Centromere Binding Protein 126 Predispose to Glioblastoma

Familial glioblastoma

medRxiv 2026· JulRead

Autosomal dominantPubMed

Impact of updated NCCN guidelines on clinical management and risk communication for CHEK2 p.I157T carriers in breast cancer.

Breast cancer — CHEK2 p.I157T carriers

New recommendationRecurrent variant

Fam Cancer 2026· JulRead

Autosomal dominant à pénétrance incomplètePubMed

Novel Germline ELP1 Splice-Acceptor Variant in NF1-Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With ELP1 Variation.

NF1-negative optic pathway glioma

Phenotypic expansion

Clin Genet 2026· JulRead

Autosomal dominantPubMed

Expansion of Germline Variants in Primary Hyperparathyroidism: Fumarate Hydratase Deficiency as a Cause of Parathyroid Adenomas.

Hereditary primary hyperparathyroidism — fumarate hydratase deficiency

Phenotypic expansion

Endocr Pathol 2026· JulRead

References and sources

BRCA1 — Hereditary breast and ovarian cancer (HBOC). Curr Oncol 2026. PMID 42505201. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42505201/
Prostate cancer — germline predisposition. Genet Med Open 2026. PMID 42502690. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42502690/
MSH3 — Hereditary colorectal cancer — MSH3 or MLH3 deficiency. medRxiv 2026. doi:10.64898/2026.07.22.26358679. Score 8/10. https://www.medrxiv.org/content/10.64898/2026.07.22.26358679v1
Hereditary cancer predisposition — familial risk stratification. Genet Med 2026. PMID 42489042. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42489042/
CEP126 — Familial glioblastoma. medRxiv 2026. doi:10.64898/2026.07.20.26358470. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.07.20.26358470v1
TP53 — Attenuated Li-Fraumeni syndrome — TP53 p.Gly334Arg variant. Fam Cancer 2026. PMID 42484901. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42484901/
BRCA2 — HR-positive/HER2-negative metastatic breast cancer in BRCA2 carriers. ESMO Open 2026. PMID 42485699. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42485699/
Hereditary breast and ovarian cancer — healthy relatives. Front Genet 2026. PMID 42483725. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42483725/
CHEK2 — Breast cancer — CHEK2 p.I157T carriers. Fam Cancer 2026. PMID 42484929. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42484929/
ELP1 — NF1-negative optic pathway glioma. Clin Genet 2026. PMID 42493427. Score 5/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70219?af=R
FH — Hereditary primary hyperparathyroidism — fumarate hydratase deficiency. Endocr Pathol 2026. PMID 42484783. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42484783/