Association of the germline TP53R337H mutation with breast cancer in southern Brazil

Assumpção, Juliana Godoy; Seidinger, Ana Luíza; Mastellaro, Maria José; Ribeiro, Raul C.; Zambetti, Gerard P.; Ganti, Ramapriya; Srivastava, Kumar; Shurtleff, Sheila; Pei, Deqing; Zeferino, Luíz Carlos; Düfloth, Rozany Mucha; Brandalise, Sílvia Regina; Yunes, José Andrés

doi:10.1186/1471-2407-8-357

Cited by 66 publications

(40 citation statements)

References 27 publications

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“…This result falls within the range of that found in previous studies conducted in southern Brazil (2.4-13%) [17,18]. However, the study by Achatz et al is based on LFS/LFL families with tumors other than breast cancer.…”

Section: Discussionsupporting

confidence: 86%

TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families

Cury

Ferraz

Silva

2014

Hered Cancer Clin Pract

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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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Section: Discussionsupporting

confidence: 86%

TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families

Cury

Ferraz

Silva

2014

Hered Cancer Clin Pract

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“…[70-72] However, more recent studies have found that the R337H mutation can be found in families with a broad spectrum of LFS-associated cancers. [73, 74] …”

Section: Li-fraumeni Syndrome Core Cancersmentioning

confidence: 99%

Tumor Protein p53 (TP53) Testing and Li-Fraumeni Syndrome

et al. 2013

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Prevalent as an acquired abnormality in cancer, the role of TP53 as a germline mutation continues to evolve. The clinical impact of a germline TP53 mutation is often dramatic and affects the full life course, with a propensity to develop rare tumors in childhood and multiple common cancers of unexpectedly early onset in adulthood. We review the clinical relevance of germline mutations in the TP53 tumor suppressor gene in current healthcare practices, including the optimal ways to identify patients with Li-Fraumeni syndrome (LFS), to recognize the core-cancers associated with LFS and to develop strategies for early detection of LFS-associated tumors. Several TP53-targeted approaches to improve outcomes in LFS patients are also reviewed. A case report was used to highlight special TP53 testing dilemmas and unique challenges associated with genetic testing decisions in our current age of rapidly advancing genomic technologies.

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“…In case of its mutation, this regulation could be lost, resulting in cell proliferation without control and development of cancer. TP53 mutation has been reported to have an association with risks of several cancers such as lung cancer [12], breast cancer [13], and colorectal cancer [14]. The loss of TP53 gene could damage its DNA-binding properties and transcription factor function, thus leading to aberrant cell proliferation.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of TP53 codon 72 with prostate carcinoma risk: a meta-analysis

Zhang

Ying

et al. 2009

Med Oncol

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Early detection and rational therapy for gastric cancer are crucial. In this study we undertook comparative proteomics for identification of gastric carcinoma biomarkers using pooled laser capture microdissected GA cells and matched nonmalignant gastric mucosa epithelial cells. The method involved separation of total proteins by 1D SDS-PAGE, trypsin digestion, and postdigest (18)O/(16)O labeling followed by nano-HPLC-MS/MS for peptide identification and relative quantification. A total of 78 differentially expressed proteins were identified, among these proteins, 42 proteins were up-regulated in GA and 36 proteins were down-regulated. Some differentially expressed proteins were further validated by western blot analysis.

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Association of the germline TP53R337H mutation with breast cancer in southern Brazil

Cited by 66 publications

References 27 publications

TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families

TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families

Tumor Protein p53 (TP53) Testing and Li-Fraumeni Syndrome

Polymorphisms of TP53 codon 72 with prostate carcinoma risk: a meta-analysis

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