ArticleHereditary cancer in clinical practice2014
TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families.
Article in Hereditary cancer in clinical practice, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.European journal of medical research · 2024Pooled it
- Trial
- A portrait of germline pathogenic variants in high and moderate penetrance breast cancer genes in Brazil.Frontiers in oncology · 2024Article
- Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.Scientific reports · 2022Article
- Psychological Impact ofCancers · 2022Article
- Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.Scientific reports · 2022Article
- Review
- TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence.Molecular genetics & genomic medicine · 2020Article
- XAF1 as a modifier of p53 function and cancer susceptibility.Science advances · 2020Article
- Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.BMC medical genomics · 2020Article
- Review
- Review
- The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome.Familial cancer · 2018Article
- Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53.Genetics and molecular biology · 2016Article
- Occurrence of Neuroblastoma among TP53 p.R337H Carriers.PloS one · 2015Article
- Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome.Human mutation · 2014Review
- Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.Human genome variation · 2014Article
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundApproximately 5-10% of breast cancers are hereditary. Among hereditary syndromes, Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Li-Fraumeni Syndrome (LFS) have received the most attention. HBOC is due to mutations in the BRCA1 and BRCA2 genes and is characterized by breast adenocarcinoma and/or epithelial ovarian carcinoma. LFS is associated with germline mutations in TP53; the most frequent cancer types associated with this syndrome are sarcoma, breast cancer, leukemia, brain tumors and adrenocortical carcinomas. Other cancers related to LFS are found at lower frequencies. In Brazil, especially in the southern part of the country, a specific mutation in the TP53 gene, TP53 p.R337H, occurs at a high frequency in childhood adrenocortical tumors. It has been proposed that this mutation increases breast cancer risk in southern Brazilian women.
methodsWe carried out a case-control study to determine the prevalence of the TP53 p.R337H mutation in 28 female cancer patients attended at the Cancer Genetic Counseling Service of the General Hospital of the University of São Paulo Medical School of Ribeirão Preto who fulfilled Hereditary Breast and Ovary Cancer Syndrome genetic test criteria compared to healthy woman (controls). TP53 p.R337H mutation status was determined using the High Resolution Melting (HRM) method, followed by DNA sequencing. Fisher's test was used to compare the prevalence of TP53 p.R337H in the patient and control groups.
resultsTwo of the breast cancer cases (7.1%) and none of the controls carried the TP53 p.R337H mutation. At the time of the investigation, both cases fulfilled testing criteria for Hereditary Breast and Ovary Cancer Syndrome but not Li-Fraumeni or Li-Fraumeni-like Syndrome, based on genetic testing criteria of NCCN Clinical Practice Guidelines in Oncology (v.1.2010).
conclusionsWe suggest that genetic screening of Brazilian breast cancer patients who fulfill Hereditary Breast and Ovary Cancer Syndrome criteria and have a family history that includes other tumors of the LFS/LFL spectrum be tested for the TP53 p.R337H mutation.
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