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Cancer genetics

Week of 10 June 2026

16 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

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16 articles of 16
Hereditary neuroendocrine neoplasms (NEN) — prevalence and clinical implications of germline variants
Autosomal dominantPubMed
★ Top pick

Germline Cancer Testing in Unselected Patients With Neuroendocrine Neoplasms: A Prospective Multicenter Study

Hereditary neuroendocrine neoplasms (NEN) — prevalence and clinical implications of germline variants
9
/10
MainstreamingPenetrance update
Pancreas 2026· JunRead
BRCA1
Autosomal dominantPubMed
★ Top pick

Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers: a meta-analysis

Contralateral breast cancer in BRCA1/2, PALB2, CHEK2, ATM pathogenic variant carriers
9
/10
Breast cancerPenetrance updateProphylactic surgery
BJC Rep 2026· JunRead
Lynch syndrome
Autosomal dominantPubMed
★ Top pick

Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer Patients

Hereditary colorectal cancer — germline mutation landscape in Chinese population (1,094 CRC patients)
9
/10
Lynch syndromeRecurrent variantMainstreaming
Cancer Med 2026· JunRead
BRCA1
Autosomal dominantPubMed
★ Top pick

Decoding BRCA1 and BRCA2 Mutations in High-Grade Serous Ovarian Cancer: Impact on Prognosis, Platinum Response, and Actionability

Germline BRCA1/2-associated high-grade serous ovarian cancer — prognostic impact by variant topography
9
/10
PARP inhibitorPenetrance update
Int J Gynecol Cancer 2026· JunRead
CDKN2B
Autosomal dominantmedRxiv
★ Top pick

Disruption of CTCF binding by germline non-coding variants in CDKN2B suppress CDKN2B expression in melanoma-prone families

Hereditary familial melanoma, 9p21 locus without CDKN2A coding variant
9
/10
New geneNew mechanism
medRxiv 2026· JunRead
Hereditary prostate cancer — germline variants in real-world multiethnic cohort
Autosomal dominantPubMed

Pathogenic Germline Variants in a Racially Diverse Real-World Cohort of Patients With Prostate Cancer

Hereditary prostate cancer — germline variants in real-world multiethnic cohort
8
/10
Recurrent variantMainstreaming
J Natl Compr Canc Netw 2026· JunRead
BRCA1
Autosomal dominantPubMed

Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Participants

Opportunistic BRCA1, BRCA2, and PALB2 screening in Finnish hospital biobank participants
8
/10
Mainstreaming
Cancer Epidemiol Biomarkers Prev 2026· JunRead
Breast cancer
PubMed

Clinical Performance of International and Korean Genetic Testing Criteria for Hereditary Breast Cancer

Hereditary breast cancer — clinical performance of genetic testing criteria (Korean vs ASCO-SSO/NCCN guidelines)
8
/10
Breast cancerNew recommendationMainstreaming
J Breast Cancer 2026· MayRead
Breast cancer
PubMed

Are current Polish guidelines for prophylactic mastectomy sufficient?

Prophylactic mastectomy — update of Polish recommendations for hereditary breast cancer predispositions
7
/10
Breast cancerNew recommendationProphylactic surgery
Hered Cancer Clin Pract 2026· JunRead
BRCA1
Autosomal dominantPubMed

Neoadjuvant pembrolizumab plus chemotherapy in germline BRCA-mutated early triple-negative breast cancer: real-world multicenter data

Germline BRCA1/2 early triple-negative breast cancer — response to neoadjuvant pembrolizumab plus chemotherapy
7
/10
NPJ Breast Cancer 2026· JunRead
Germline predisposition
PubMed

Germline Whole-Genome Sequencing in Early-Onset Pediatric Solid Tumors Implicates Structural Variants in Cancer Risk

Early-onset pediatric solid tumors — germline structural variants for predisposition
7
/10
Germline predispositionMainstreaming
JCO Precis Oncol 2026· JunRead
Lynch syndrome
PubMed

Prevalence and clinicopathologic features of mismatch repair-deficient endometrial cancers in young Japanese patients

MMR-deficient endometrial cancers in young Japanese patients — universal Lynch testing
7
/10
Lynch syndromeMainstreamingNew recommendation
Int J Clin Oncol 2026· JunRead
MEN1
Autosomal dominantPubMed

A de novo MEN1 gene mutation in a 4-year-old boy with hypoglycemia: A case report and literature review

MEN1 (multiple endocrine neoplasia type 1), de novo MEN1 mutation, pediatric insulinoma at age 4
7
/10
Functional SNVRecurrent variant
Cancer Genet 2026· JunRead
EPCAM
Autosomal dominantPubMed

Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome

Lynch syndrome — novel EPCAM-MSH2 intergenic deletion, MSH2 epigenetic silencing mechanism
7
/10
Lynch syndromeRecurrent variantVUS reclassified
J Med Genet 2026· JunRead
Hereditary ovarian cancer in older women (≥70 years) — real-world genetic testing data
PubMed

Real-world genetic testing data of ovarian cancer patients: Informing counseling in older women

Hereditary ovarian cancer in older women (≥70 years) — real-world genetic testing data
7
/10
MainstreamingPARP inhibitor
Gynecol Oncol 2026· JunRead
Lynch syndrome
Autosomal dominantPubMed

Integrated tumor and germline profiling of lynch syndrome in a North Indian cohort

Lynch syndrome — germline mutational landscape in a North Indian cohort (CRC + EC)
7
/10
Lynch syndromeRecurrent variant
Front Oncol 2026· JanRead

References and sources

  1. Hereditary neuroendocrine neoplasms (NEN) — prevalence and clinical implications of germline variants. Pancreas 2026. PMID 42240119. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42240119/
  2. BRCA1 — Contralateral breast cancer in BRCA1/2, PALB2, CHEK2, ATM pathogenic variant carriers. BJC Rep 2026. PMID 42236538. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42236538/
  3. Hereditary colorectal cancer — germline mutation landscape in Chinese population (1,094 CRC patients). Cancer Med 2026. PMID 42204638. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42204638/
  4. BRCA1 — Germline BRCA1/2-associated high-grade serous ovarian cancer — prognostic impact by variant topography. Int J Gynecol Cancer 2026. PMID 42061278. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42061278/
  5. CDKN2B — Hereditary familial melanoma, 9p21 locus without CDKN2A coding variant. medRxiv 2026. doi:10.64898/2026.06.01.26352322. Score 9/10. https://www.medrxiv.org/content/10.64898/2026.06.01.26352322v1
  6. Hereditary prostate cancer — germline variants in real-world multiethnic cohort. J Natl Compr Canc Netw 2026. PMID 42229501. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42229501/
  7. BRCA1 — Opportunistic BRCA1, BRCA2, and PALB2 screening in Finnish hospital biobank participants. Cancer Epidemiol Biomarkers Prev 2026. PMID 41954593. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41954593/
  8. Hereditary breast cancer — clinical performance of genetic testing criteria (Korean vs ASCO-SSO/NCCN guidelines). J Breast Cancer 2026. PMID 42237515. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42237515/
  9. Prophylactic mastectomy — update of Polish recommendations for hereditary breast cancer predispositions. Hered Cancer Clin Pract 2026. PMID 42243898. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42243898/
  10. BRCA1 — Germline BRCA1/2 early triple-negative breast cancer — response to neoadjuvant pembrolizumab plus chemotherapy. NPJ Breast Cancer 2026. PMID 42230640. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42230640/
  11. Early-onset pediatric solid tumors — germline structural variants for predisposition. JCO Precis Oncol 2026. PMID 42234944. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42234944/
  12. MMR-deficient endometrial cancers in young Japanese patients — universal Lynch testing. Int J Clin Oncol 2026. PMID 41954815. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41954815/
  13. MEN1 — MEN1 (multiple endocrine neoplasia type 1), de novo MEN1 mutation, pediatric insulinoma at age 4. Cancer Genet 2026. PMID 41936330. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/41936330/
  14. EPCAM — Lynch syndrome — novel EPCAM-MSH2 intergenic deletion, MSH2 epigenetic silencing mechanism. J Med Genet 2026. PMID 42248668. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42248668/
  15. Hereditary ovarian cancer in older women (≥70 years) — real-world genetic testing data. Gynecol Oncol 2026. PMID 42114202. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42114202/
  16. Lynch syndrome — germline mutational landscape in a North Indian cohort (CRC + EC). Front Oncol 2026. PMID 42239900. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42239900/
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3 June 2026