ArticleFamilial cancer2012
Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
Article in Familial cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.Journal of ovarian research · 2020Pooled it
- Druggable Molecular Networks inBiology · 2025Review
- Article
- Prognostic Value Estimation of BRIP1 in Breast Cancer by Exploiting Transcriptomics Data Through Bioinformatics Approaches.Bioinformatics and biology insights · 2021Article
- Comparison of Patient Susceptibility Genes Across Breast Cancer: Implications for Prognosis and Therapeutic Outcomes.Pharmacogenomics and personalized medicine · 2020Review
- Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.Cancer science · 2017Article
- The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.International journal of molecular sciences · 2017Review
- Frequency of germline PALB2 mutations among women with epithelial ovarian cancer.Familial cancer · 2017Article
- Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.Cancer research and treatment · 2016Article
- No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.Journal of medical genetics · 2016Article
- Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.BMC cancer · 2015Article
- Rapid and cost effective screening of breast and ovarian cancer genes using novel sequence capture method in clinical samples.Familial cancer · 2014Article
- Genetic counseling for Fanconi anemia: crosslinking disciplines.Journal of genetic counseling · 2014Review
- Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.Oncogene · 2014Article
- Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction.BMC neurology · 2014Article
- Integrated analysis of germline and somatic variants in ovarian cancer.Nature communications · 2014Article
- Article
- Hereditary breast cancer: the era of new susceptibility genes.BioMed research international · 2013Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in BRCA1 and BRCA2 account for ~30 % of inherited breast cancer. BRIP1 and PALB2 are likely genes for breast cancer susceptibility, based on their roles in maintaining cellular integrity. Indeed, few pathogenic germline mutations in both genes are reported in ethnically diverse breast cancer families. There is a paucity of data on the putative contribution of both genes to inherited breast cancer in Jewish high risk families. High risk Jewish women, none of whom was a carrier of the predominant Jewish mutations in BRCA1/BRCA2, were screened for BRIP1 germline mutations by combined denaturing gradient gel electrophoresis, high resolution melting and sequencing. Direct sequencing of exons and flanking intronic sequences was used for PALB2 mutational analysis. Overall, 149 women, all of high risk, cancer prone families of Ashkenazi origin, were genotyped for BRIP1 mutations: 127 with breast cancer, 22 with ovarian cancer. No truncating mutations were noted and one novel (p.Ala745Thr) and two previously described missense mutations were detected. For PALB2, 93 women were genotyped (87 with breast cancer) of Ashkenazi (n = 32) and non Ashkenazi Jewish origin. Fifteen sequence variants were detected, of these, none was truncating, four were not previously reported, and two (p.Asp871Gly and p.Leu1119Pro) were seemingly pathogenic based on the PolyPhen2 protein prediction algorithm. These missense mutations were not detected in any of 113 healthy Ashkenazi and 109 Moroccan, cancer free controls. In conclusion, germline mutations in BRIP1 and PALB2 contribute marginally to breast cancer susceptibility in ethnically diverse, Jewish high risk families.
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