BRCA1 and BRCA2 Common Mutations in Iranian Breast Cancer Patients: a Meta Analysis

Forat-Yazdi, Mohammad; Neámatzadeh, Hossein; Sheikhha, Mohammad Hasan; Zare-Shehneh, Masoud; Fattahi, Mortaza

doi:10.7314/apjcp.2015.16.3.1219

Cited by 12 publications

(7 citation statements)

References 34 publications

(23 reference statements)

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“…In our study, we determined the prevalence of all BRCA1 and BRCA2 mutations among Latin American breast cancer subjects. This study is similar to Wang et al and Forat-Yazdi et al, who determine the prevalence in breast cancer families and Iranians, respectively [54,55]; however, neither study examined the prevalence in nor contained Latin American subjects, specifically. Furthermore, Wang et al and Forat-Yazdi et al excluded studies from their meta-analysis that determine the absence of a mutation from their sample, which may have led them to overestimated the mutation's prevalence.…”

Section: Discussionsupporting

confidence: 80%

Common BRCA1 and BRCA2 Mutations among Latin American Breast Cancer Subjects: A Meta-Analysis

Porchia¹

2015

J Carcinog Mutagen

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Background: Many BRCA1 and BRCA2 mutations have been characterized in breast cancer subjects; however, the overall prevalence in Latin American remains elusive. The aim of the study was to determine the prevalence of common BRCA1 and BRCA2 mutations in Latin American breast cancer subjects. Methods: Pubmed, EBSCO, and OVID databases, and study bibliographies were systematically searched for observational studies that examined for mutations in BRCA1 and BRCA2 until March 2015. The pooled prevalence was obtained using the inverse double arcsine square root method. Publication bias was assessed by Begg and Mazumdar's test and the Egger's test. The sensitivity was determined by reevaluation of the pooled estimate after removal of one study. Results: Out of 294 retrieved studies, 32 studies met the inclusion criteria (n=9938 subjects). Twenty-nine BRCA1 and thirteen BRCA2 pathogenic mutations were described in two or more studies. For BRCA1, the most reported mutations were 185delAG and A1708E. The most prevalent BRCA1 mutations (>0.50%) were del exon 9-12 (1.

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Section: Discussionsupporting

confidence: 80%

Common BRCA1 and BRCA2 Mutations among Latin American Breast Cancer Subjects: A Meta-Analysis

Porchia¹

2015

J Carcinog Mutagen

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“…Two benign mutations, c.3113A>G BRCA1 in exon 10 and c.4837A>G BRCA1 in exon 16, were detected in 8/16 relatives (50%). Variants c.3113A>G and c.4837A>G were previously reported as candidate founder mutations in an iranian population (27).…”

Section: Pathogenic Variants Are Confined To Relatives Of Patients Wi...mentioning

confidence: 89%

Preliminary results of targeted sequencing of BRCA1 and BRCA2 in a cohort of breast cancer families: New insight into pathogenic variants in patients and at‑risk relatives

et al. 2021

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Breast cancer (Bc) is the most commonly diagnosed cancer worldwide and a major health concern in egypt. There is a known association between pathogenic variants identified in breast cancer susceptibility gene (BRCA)1 and 2 and the risk of developing Bc. However, the number of studies investigating mutations in BRCA1 and BRCA2 in egypt remains limited. Thus, the aim of the present study was to investigate the frequency of BRCA1 and BRCA2 variants in patients with Bc and their relatives. For this purpose, 11 families (11 patients and 16 relatives) were included in the present study. BRCA1 and BRCA2 variants were investigated using the ion S5 next-generation sequencer. it was found that pathogenic variants were more frequent in patients with familial Bc (FBc) than in those with sporadic Bc, with 71% of variants in BRCA2, including the first reported identification of c.9089del, c.5583_5584dup, c.8243G>A and c.7976G>A pathogenic variants in Egyptian patients with BC. Pathogenic variants in relatives were confined to FBC c.1278delA, c.1960_1961del, and c.1224delT, with a higher incidence of variants of uncertain significance (VUS), such as BRCA2 intron 2 c.68-16delT. of note, two cold spot benign variants, c.3113A>G and c.4837A>G, were repeatedly found (67%) in patients and relatives. in conclusion, to the best of our knowledge, novel pathogenic variants and VUS in Egyptian patients with BC and their high-risk relatives were identified for the first time in the present study. These findings should be integrated with other genomic data concerning egyptian families and carefully interpreted during genetic counseling.

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“…Aging, family history of cancer, and certain behaviors [4], as well as dietary habits [5, 6], are risk factors for BC. Endogenous metabolites and exogenous carcinogens cause genetic damage [7], and mutations in oncogenes and tumor suppressor genes [8] may contribute to the etiology of BC. In addition, oxidative stress may play a critical role in cell proliferation and malignant conversion during the development of BC [9].…”

Section: Introductionmentioning

confidence: 99%

Paraoxonase 1 gene polymorphisms are associated with an increased risk of breast cancer in a population of Chinese women

Fang

Zhou

et al. 2017

Oncotarget

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In this study, we explored associations between paraoxonase 1 (PON1) L55M and Q192R gene polymorphisms and the risk of breast cancer in 365 female breast cancer patients and 378 healthy controls from the Guangxi region of southern China. The LM heterozygous and MM homozygous genotypes, as well as M carrier status and M alleles, were associated with an increased risk of breast cancer. In addition, the M allele was associated with postmenopausal status and increased nodal involvement. In contrast, none of the Q192R genotypes or alleles were associated with a change in breast cancer risk, or with any of the clinicopathological parameters. These results indicate that PON1 L55M genetic polymorphisms may be associated with the risk of breast cancer and could potentially serve as useful genetic markers for tumor prognosis in some populations of Chinese women.

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BRCA1 and BRCA2 Common Mutations in Iranian Breast Cancer Patients: a Meta Analysis

Cited by 12 publications

References 34 publications

Common BRCA1 and BRCA2 Mutations among Latin American Breast Cancer Subjects: A Meta-Analysis

Common BRCA1 and BRCA2 Mutations among Latin American Breast Cancer Subjects: A Meta-Analysis

Preliminary results of targeted sequencing of BRCA1 and BRCA2 in a cohort of breast cancer families: New insight into pathogenic variants in patients and at‑risk relatives

Paraoxonase 1 gene polymorphisms are associated with an increased risk of breast cancer in a population of Chinese women

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