ArticleClinical cancer research : an official journal of the American Association for Cancer Research2025
Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Real-World Germline Variant Landscape and Clinical Management in Korean Patients Tested for Suspected Hereditary Cancer.Cancer science · 2026Article
- Multigene Germline Testing in Patients with DCIS vs Invasive Breast Cancer in a Large, Integrated Health Care System.Annals of surgical oncology · 2026Article
- Genomic ascertainment ofmedRxiv : the preprint server for health sciences · 2026Article
- Pathogenic Variants, Family History, and Cumulative Risk of Breast Cancer in US Women.JAMA oncology · 2025Article
- Do Patients with DCIS or Invasive Breast Cancer Carry the Same Risk for Genetic Mutation?Annals of surgical oncology · 2025Article
- Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women.Hereditary cancer in clinical practice · 2025Article
- DCIS Progression and the Tumor Microenvironment: Molecular Insights and Prognostic Challenges.Cancers · 2025Review
- Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action.Current oncology (Toronto, Ont.) · 2025Article
- Article
- Translocation of benzo(a)pyrene reactive metabolites across human mammary epithelial cell membranes.PloS one · 2025Article
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Authors and funding
42 authors.
Funding
Abstract
purposeTo determine the relationship between germline pathogenic variants (PV) in cancer predisposition genes and the risk of ductal carcinoma in situ (DCIS). EXPERIMENTAL
designGermline PV frequencies in breast cancer predisposition genes (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, RAD51C, and RAD51D) were compared between DCIS cases and unaffected controls and between DCIS and invasive ductal breast cancer (IDC) cases from a clinical testing cohort (n = 9,887), a population-based cohort (n = 3,876), and the UK Biobank (n = 2,421). The risk of contralateral breast cancer (CBC) for DCIS cases with PV was estimated in the population-based cohort.
resultsGermline PV were observed in 6.5% and 4.6% of women with DCIS in the clinical testing and population-based cohorts, respectively. BRCA1, BRCA2, and PALB2 PV frequencies were significantly lower among women with DCIS than those with IDC (clinical cohort: 2.8% vs. 5.7%; population-based cohort: 1.7% vs. 3.7%), whereas the PV frequencies for ATM and CHEK2 were similar. ATM, BRCA1, BRCA2, CHEK2, and PALB2 PV were significantly associated with an increased risk of DCIS (OR > 2.0), but only BRCA2 PV were associated with high risk (OR > 4) in both cohorts. The cumulative incidence of CBC among carriers of PV in high-penetrance genes with DCIS was 23% over 15 years.
conclusionsThe enrichment of PV in ATM, BRCA1, BRCA2, CHEK2, and PALB2 among women with DCIS suggests that multigene panel testing may be appropriate for women with DCIS. Elevated risks of CBC in carriers of PV in high-penetrance genes with DCIS confirmed the utility of testing for surgical decision-making.
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