ArticleInternational journal of cancer2017
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
Article in International journal of cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 3 of them syntheses that pooled it.
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Who cites it
30 citing papers in PubMed, 3 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- The Association of PTEN Gene Mutations with the Breast Cancer Risk: A Systematic Review and Meta-analysis.Biochemical genetics · 2024Pooled it
- Statistical approaches for meta-analysis of genetic mutation prevalence.Genetic epidemiology · 2021Pooled it
- Summary ofGenes · 2020Pooled it
- Variation at the R181 Residue of p53 Confers Loss of p53 DNA Binding Cooperativity with the Retention of Mitochondria-Associated Apoptosis.Molecular cancer research : MCR · 2026Article
- Low-penetrance TP53 variants are mainly hypomorphic: an underestimated issue with high clinical significance.NPJ genomic medicine · 2026Article
- Utilization of whole exome sequencing to identify hereditary mutations in Palestinian families with hereditary cancers.Frontiers in genetics · 2026Article
- Integrative Gene-Centric Analysis Reveals Cellular Pathways Associated with Heritable Breast Cancer Predisposition.Cancers · 2025Article
- The TP53 tumor suppressor gene: From molecular biology to clinical investigations.Journal of internal medicine · 2025Review
- Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.Scientific reports · 2025Article
- TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.Journal of the National Cancer Institute · 2025Article
- Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent.Familial cancer · 2024Article
- Hereditary cancer syndromes.World journal of clinical oncology · 2023Review
- Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.Diagnostics (Basel, Switzerland) · 2022Article
- Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.Cancer medicine · 2022Article
- Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.Frontiers in oncology · 2022Review
- Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.American journal of human genetics · 2021Article
- Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.International journal of clinical oncology · 2021Article
- Molecular Spectra and Frequency Patterns of Somatic Mutations in Arab Women with Breast Cancer.The oncologist · 2021Article
- 2020 William Allan Award introduction: Mary-Claire King.American journal of human genetics · 2021Article
- BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan.Scientific reports · 2020Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 3 countries.
Funding
Abstract
Breast cancer among Palestinian women has lower incidence than in Europe or North America, yet is very frequently familial. We studied genetic causes of this familial clustering in a consecutive hospital-based series of 875 Palestinian patients with invasive breast cancer, including 453 women with diagnosis by age 40, or with breast or ovarian cancer in a mother, sister, grandmother or aunt ("discovery series"); and 422 women diagnosed after age 40 and with negative family history ("older-onset sporadic patient series"). Genomic DNA from women in the discovery series was sequenced for all known breast cancer genes, revealing a pathogenic mutation in 13% (61/453) of patients. These mutations were screened in all patients and in 300 Palestinian female controls, revealing 1.0% (4/422) carriers among older, nonfamilial patients and two carriers among controls. The mutational spectrum was highly heterogeneous, including pathogenic mutations in 11 different genes: BRCA1, BRCA2, TP53, ATM, CHEK2, BARD1, BRIP1, PALB2, MRE11A, PTEN and XRCC2. BRCA1 carriers were significantly more likely than other patients to have triple negative tumors (p = 0.03). The single most frequent mutation was TP53 p.R181C, which was significantly enriched in the discovery series compared to controls (p = 0.01) and was responsible for 15% of breast cancers among young onset or familial patients. TP53 p.R181C predisposed specifically to breast cancer with incomplete penetrance, and not to other Li-Fraumeni cancers. Palestinian women with young onset or familial breast cancer and their families would benefit from genetic analysis and counseling.
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