ArticleBreast cancer research : BCR2010
A PALB2 mutation associated with high risk of breast cancer.
Article in Breast cancer research : BCR, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 3 of them syntheses that pooled it.
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Who cites it
67 citing papers in PubMed, 3 syntheses or guidelines pooled it, 114 citations in OpenAlex.
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.Journal of human genetics · 2020Pooled it
- Risk of pancreatic cancer in breast cancer families from the breast cancer family registry.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2013Pooled it
- KEAP1-NRF2 Interaction in Cancer: Competitive Interactors and Their Role in Carcinogenesis.Cancers · 2025Review
- Understanding genetic variations associated with familial breast cancer.World journal of surgical oncology · 2024Review
- Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.Journal of cancer research and clinical oncology · 2024Article
- The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.Genome medicine · 2023Article
- Management of PALB2-associated breast cancer: A literature review and case report.Clinical case reports · 2023Article
- Going beyond bibliometrics: A system to track the progress and impact of biomedical research funded by Susan G. Komen.Clinical and translational science · 2022Article
- CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival.Cancers · 2022Article
- Using publicly available datasets to identify population-based transcriptomic landscape contributing to the aggressiveness of breast cancer in young women.Frontiers in genetics · 2022Article
- Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.NPJ breast cancer · 2021Article
- GermlineCancers · 2021Article
- Article
- Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants inCancers · 2021Article
- Case Report: Detection of a Novel GermlineFrontiers in oncology · 2021Article
- Diagnostic yield of a custom-designed multi-gene cancer panel in Irish patients with breast cancer.Irish journal of medical science · 2020Article
- Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.Ophthalmology · 2020Article
- [Identifying critical state of breast cancer cell differentiation based on landscape dynamic network biomarkers].Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhi · 2020Article
- Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.Geburtshilfe und Frauenheilkunde · 2020Article
7 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 5 institutions in 4 countries.
Funding
Abstract
ntroductionAs a group, women who carry germline mutations in partner and localizer of breast cancer 2 susceptibility protein (PALB2) are at increased risk of breast cancer. Little is known about by how much or whether risk differs by mutation or family history, owing to the paucity of studies of cases unselected for family history.
methodsWe screened 1,403 case probands for PALB2 mutations in a population-based study of Australian women with invasive breast cancer stratified by age at onset. The age-specific risk of breast cancer was estimated from the cancer histories of first- and second-degree relatives of mutation-carrying probands using a modified segregation analysis that included a polygenic modifier and was conditioned on the carrier case proband. Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with multiple cases of breast cancer ascertained through family cancer clinics in Australia and New Zealand and 764 population-based controls.
resultsWe found five independent case probands in the population-based sample with the protein-truncating mutation PALB2 c.3113G > A (W1038X); 2 of 695 were diagnosed before age 40 years and 3 of 708 were diagnosed when between ages 40 and 59 years. Both of the two early-onset carrier case probands had very strong family histories of breast cancer. Further testing found that the mutation segregated with breast cancer in these families. No c.3113G > A (W1038X) carriers were found in 764 population-based unaffected controls. The hazard ratio was estimated to be 30.1 (95% confidence interval (CI), 7.5 to 120; P < 0.0001), and the corresponding cumulative risk estimates were 49% (95% CI, 15 to 93) to age 50 and 91% (95% CI, 44 to 100) to age 70. We found another eight families carrying this mutation in 779 families with multiple cases of breast cancer ascertained through family cancer clinics.
conclusionsThe PALB2 c.3113G > A mutation appears to be associated with substantial risks of breast cancer that are of clinical relevance.
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