ArticleCancer2012
Novel germline PALB2 truncating mutations in African American breast cancer patients.
Article in Cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 37 citations in OpenAlex.
- Breast cancer subtype of French women is not influenced by socioeconomic status: A population-based-study.PloS one · 2017Trial
- Breast cancer inequities: the intersectional role of social epidemiology and tumor biology.Cancer causes & control : CCC · 2026Review
- Impact of Early Testing and Analysis of Germline Genetic Mutation in Patients with Breast Cancer: A Single Institution Experience.Journal of cancer prevention · 2025Article
- Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in Korea.Journal of breast cancer · 2024Article
- Breast Cancer Germline Genetic Counseling and Testing for Populations of African Heritage Globally: A Scoping Review on Research, Practice, and Bioethical Considerations.JCO global oncology · 2023Article
- Disparities in Surgical Oncology: Management of Advanced Cancer.Annals of surgical oncology · 2021Review
- The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response.Human mutation · 2021Article
- Discovery of mutations in homologous recombination genes in African-American women with breast cancer.Familial cancer · 2018Article
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- Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey.Molecular biology reports · 2016Article
- Analysis of PALB2 mutations in 155 Japanese patients with breast and/or ovarian cancer.International journal of clinical oncology · 2016Article
- Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer.Familial cancer · 2016Article
- Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.Oncotarget · 2016Article
- Genomic instability in human cancer: Molecular insights and opportunities for therapeutic attack and prevention through diet and nutrition.Seminars in cancer biology · 2015Review
- Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation.Familial cancer · 2015Article
- Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.Breast cancer research : BCR · 2015Article
- Triple-negative breast cancer in African-American women: disparities versus biology.Nature reviews. Cancer · 2015Article
- Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.BMC cancer · 2015Article
- Inherited predisposition to breast cancer among African American women.Breast cancer research and treatment · 2015Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundIt has been demonstrated that the partner and localizer of breast cancer 2 (PALB2) acts as a bridging molecule between the breast cancer 1 (BRCA1) and BRCA2 proteins and is responsible for facilitating BRCA2-mediated DNA repair. Truncating mutations in the PALB2 gene reportedly are enriched in patients with Fanconi anemia and breast cancer in various populations.
methodsThe authors evaluated the contribution of PALB2 germline mutations in 279 African American women with breast cancer, including 29 patients with a strong family history, 29 patients with a moderate family history, 75 patients with a weak family history, and 146 patients with nonfamilial or sporadic breast cancer.
resultsAfter direct sequencing of all the coding exons, exon/intron boundaries, and 5' and 3' untranslated regions of PALB2, 3 novel, monoallelic, truncating mutations (1.08%; 3 in 279 patients) were identified (c.758dupT [exon 4], c.1479delC [exon 4], and c.3048delT [exon 10]) together with 50 sequence variants, 27 of which were novel. None of the truncating mutations were identified in a group of 262 controls from the same population.
conclusionsPALB2 mutations were present in both familial and nonfamilial breast cancers among African Americans. Rare PALB2 mutations accounted for a small but substantial proportion of patients with breast cancer.
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