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Cancer genetics
Week of 1 September 2026
13 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►BRCA1 — exon 18 splicing sets its own thresholds: 34% of variants reinterpreted, 10% of uncertainty resolved.
- ►BRCA1/BRCA2 — under 40, the date of the genetic result weighs more on the extent of surgery than tumour risk does (adjusted OR 20.7).
- ►BRCA1/BRCA2 — after ovarian cancer, breast cancer risk is 0.88%/year before 5 years and 1.89%/year beyond 10 years.
- ►PALB2 / BRCA1 / BRCA2 — expanded testing at diagnosis identifies almost a quarter more carriers than NHS R208 criteria.
- ►PALB2, BRIP1, RAD51C, RAD51D — no occult serous carcinoma across 207 risk-reducing operations, versus 5% in BRCA1/BRCA2 carriers.
- ►MSH6, BRCA2 — association with hepatocellular carcinoma across 293,141 participants (odds ratios 2.5 and 2.3).
13 articles of 13
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BRCA1
Autosomal dominantPubMed★ Top pick
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.
Hereditary breast and ovarian cancer
9
VUS reclassifiedFunctional SNV
Am J Hum Genet 2026· AugRead
BRCA1/2
Autosomal dominantPubMedSurgical Management of Early-Onset Breast Cancer Among Young BRCA1 and BRCA2 Carriers.
Early-onset breast cancer in BRCA1/2 carriers
8
Breast cancerProphylactic surgeryMainstreaming
JAMA Netw Open 2026· AugRead
BRCA1/2
Autosomal dominantPubMedRisk of breast cancer after ovarian cancer in germline BRCA1/BRCA2 heterozygotes.
Breast cancer after ovarian cancer in BRCA1/2 carriers
8
Penetrance update
J Med Genet 2026· AugRead
BRCA1, BRCA2, PALB2
Autosomal dominantPubMedThe Impact of Expanded Access to Germline High Penetrance Genetic Testing for Women With a New Diagnosis of Invasive Breast Cancer or High-Grade DCIS.
Invasive breast cancer and high-grade ductal carcinoma in situ
7
MainstreamingProphylactic surgery
Clin Breast Cancer 2026· AugRead
PALB2, BRIP1, RAD51C, RAD51D, ATM, CHEK2
Autosomal dominantPubMedRisk-reducing gynecologic surgery in non-BRCA cancer predisposition mutations: a multi-institutional study.
Non-BRCA predisposition and risk-reducing gynaecologic surgery
7
Prophylactic surgery
Int J Gynecol Cancer 2026· AugRead
DICER1, TP53, SMAD4
PubMedDistinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.
Interpretation of tumour suppressor gene variants
7
Am J Hum Genet 2026· AugRead
Hereditary cancers — unresolved splicing variants
PubMedRapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.
Hereditary cancers — unresolved splicing variants
7
VUS reclassifiedFunctional SNV
J Med Genet 2026· AugRead
MSH6, BRCA2
Autosomal dominantPubMedMulti-ancestry sequencing analysis in 293,141 participants identifies predisposition DNA repair genes associated with HCC risk.
Hepatocellular carcinoma — germline predisposition
7
Lynch syndromePenetrance update
JHEP Rep 2026· AugRead
Breast cancer
PubMedTiming of breast cancer diagnosis postpartum and survival in women with germline pathogenic variants.
Hereditary breast cancer and reproductive timing
7
Breast cancer
ESMO Open 2026· AugRead
MLH1
Autosomal dominantPubMedUniversal Tumor Screening in Colorectal Cancer: Role of MMR Immunohistochemistry for Lynch Syndrome and Early-Onset CRC.
Lynch syndrome — universal tumour screening in colorectal cancer
6
Lynch syndromeMainstreaming
Cancers (Basel) 2026· AugRead
Lynch syndrome
PubMedIntegrated Genetic Risk Stratification Identifies High Adenoma Detection Rates at Colonoscopy in a Real-World US Health System.
Colorectal cancer — genetic risk stratification
6
Lynch syndrome
Gastro Hep Adv 2026· JulRead
BRCA1, BRCA2
Autosomal dominantPubMedMapping the Prevalence of BRCA1 and BRCA2 Mutations in Hereditary Breast and Ovarian Cancer Across Africa: A Systematic Review and Meta-Analysis.
Hereditary breast and ovarian cancer across Africa
6
Asian Pac J Cancer Prev 2026· AugRead
PTEN, DICER1, APC
Autosomal dominantPubMedApproaches to Thyroid Nodules in Paediatric Cancer Predisposition Syndromes.
Thyroid nodules in paediatric cancer predisposition syndromes
5
Eur Thyroid J 2026· AugRead
References and sources
- BRCA1 — Hereditary breast and ovarian cancer. Am J Hum Genet 2026. PMID 42641601. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42641601/
- BRCA1/2 — Early-onset breast cancer in BRCA1/2 carriers. JAMA Netw Open 2026. PMID 42646839. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42646839/
- BRCA1/2 — Breast cancer after ovarian cancer in BRCA1/2 carriers. J Med Genet 2026. PMID 42642214. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42642214/
- BRCA1, BRCA2, PALB2 — Invasive breast cancer and high-grade ductal carcinoma in situ. Clin Breast Cancer 2026. PMID 42659730. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42659730/
- PALB2, BRIP1, RAD51C, RAD51D, ATM, CHEK2 — Non-BRCA predisposition and risk-reducing gynaecologic surgery. Int J Gynecol Cancer 2026. PMID 42648957. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42648957/
- DICER1, TP53, SMAD4 — Interpretation of tumour suppressor gene variants. Am J Hum Genet 2026. PMID 42641600. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42641600/
- Hereditary cancers — unresolved splicing variants. J Med Genet 2026. PMID 42642213. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42642213/
- MSH6, BRCA2 — Hepatocellular carcinoma — germline predisposition. JHEP Rep 2026. PMID 42667987. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42667987/
- Hereditary breast cancer and reproductive timing. ESMO Open 2026. PMID 42659893. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42659893/
- MLH1 — Lynch syndrome — universal tumour screening in colorectal cancer. Cancers (Basel) 2026. PMID 42649864. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42649864/
- Colorectal cancer — genetic risk stratification. Gastro Hep Adv 2026. PMID 42657326. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42657326/
- BRCA1, BRCA2 — Hereditary breast and ovarian cancer across Africa. Asian Pac J Cancer Prev 2026. PMID 42663196. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42663196/
- PTEN, DICER1, APC — Thyroid nodules in paediatric cancer predisposition syndromes. Eur Thyroid J 2026. PMID 42664314. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42664314/
