ArticleHuman mutation2012
Rare germline mutations in PALB2 and breast cancer risk: a population-based study.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 86 citations in OpenAlex.
- Association of gene variant type and location with breast cancer risk in the general population.Annals of oncology : official journal of the European Society for Medical Oncology · 2025Article
- Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.Cancers · 2025Article
- Hodgkin lymphoma and Ewing sarcoma in pediatric patient carrying germlineFrontiers in oncology · 2025Article
- Management of PALB2-associated breast cancer: A literature review and case report.Clinical case reports · 2023Article
- The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk inCancers · 2023Article
- Genetic contribution of breast cancer genes in women of black African origin.Frontiers in genetics · 2023Review
- Review
- Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.Scientific reports · 2022Article
- Germline mutations in a DNA repair pathway are associated with familial colorectal cancer.JCI insight · 2021Article
- Review
- Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.Journal of the National Cancer Institute · 2020Article
- Prevalence of Germline Pathogenic and Likely Pathogenic Variants in Patients With Second Breast Cancers.JNCI cancer spectrum · 2020Article
- Differences in physician opinions about controversial issues surrounding contralateral prophylactic mastectomy (CPM): A survey of physicians from accredited breast centers in the United States.Cancer medicine · 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
- Two truncating variants in FANCC and breast cancer risk.Scientific reports · 2019Article
- Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.International journal of cancer · 2019Article
- Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.Familial cancer · 2018Article
- Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer.Cancer medicine · 2018Article
- Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2018Article
- Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.Clujul medical (1957) · 2018Article
Corrections and comments
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Authors and funding
13 authors at 8 institutions in 4 countries.
Funding
Abstract
Germline mutations in the PALB2 gene are associated with an increased risk of developing breast cancer but little is known about the frequencies of rare variants in PALB2 and the nature of the variants that influence risk. We selected participants recruited to the Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study and screened lymphocyte DNA from cases with contralateral breast cancer (n = 559) and matched controls with unilateral breast cancer (n = 565) for PALB2 mutations. Five pathogenic PALB2 mutations were identified among the cases (0.9%) versus none among the controls (P = 0.04). The first-degree female relatives of these five carriers demonstrated significantly higher incidence of breast cancer than relatives of noncarrier cases, indicating that pathogenic PALB2 mutations confer an estimated 5.3-fold increase in risk (95% CI: 1.8-13.2). The frequency of rare (<1% MAF) missense mutations was similar in both groups (23 vs. 21). Our findings confirm in a population-based study setting of women with breast cancer the strong risk associated with truncating mutations in PALB2 that has been reported in family studies. Conversely, there is no evidence from this study that rare PALB2 missense mutations strongly influence breast cancer risk.
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