Mutations analysis of BRCA1 gene in patients with breast cancer in South Khorasan province, East Iran

Khalili-Tanha, Ghazaleh; Sebzari, Ahmadreza; Moodi, Mitra; Hajipoor, Fatemeh; Naseri, Mohsen

doi:10.47176/mjiri.33.105

Cited by 2 publications

(2 citation statements)

References 19 publications

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“…The absence of BRCA1 germline mutation observed in this study suggests that the c.68_69delAG and the c.5266dupC mutations are not present or might be present at extremely low frequencies among indigenous Tanzanian BC patients. Our findings relate with previous findings from Eastern Iran that reported the absence of these mutations; where other mutations in exons 11, 13, and 16 were detected in a series of 88 patients (Khalili-Tanha et al 2019). Similarly, a study from north-central Poland reported that the c.68_69delAG mutation was rare in their population, detected only in one out of 252 BC patients screened.…”

Section: Discussionsupporting

confidence: 91%

Absence of Germline BRCA1 c.68_69delAG and c.5266dupC Mutations among Hormone Receptor-negative Breast Cancer Patients: A First Impression at a Tertiary Cancer-care Facility in Tanzania

et al. 2021

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The germline BRCA1 c.68_69delAG (185delAG) and c.5266dupC (5382insC) mutations are associated with hormone receptor-negative breast cancer (BC). Limited studies have examined their contribution to alarming BC incidence in Sub Saharan Africa (SSA). Our study aimed to examine the contribution of germline BRCA1 c.68_69delAG and c.5266dupC mutations to BC incidence among hormone receptor-negative BC patients admitted to Ocean Road Cancer Institute in Tanzania. Face-to-face interviews were conducted to capture socio-demographic characteristics, anthropometric measurements, family history of cancer and reproductive information from each patient. Their histopathological data were extracted from the hospital medical records. The germline BRCA1 founder mutations were analyzed on blood samples using Sanger sequencing technology. The patients mean age at diagnosis was 47.05 ± 12.82 years. A family history of cancer was observed in 13.6% of patients. The germline BRCA1 c.68_69delAG and c.5266dupC mutations were not detected in the study group. Our findings indicate that the germline BRCA1 c.68_69delAG and c.5266dupC mutations do not contribute to BC manifestation in hormone receptor-negative BC patients in Tanzania. Thus, screening BC patients for these mutations has no clinical relevance. Our data further suggest that the c.68_69delAG and the c.5266dupC mutations should not be considered when developing genetic testing guidelines in Tanzania. Keywords: Breast cancer, germline BRCA1 mutation, c.68_69delAG (185delAG), c.5266dupC (5382insC), Tanzania

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Section: Discussionsupporting

confidence: 91%

Absence of Germline BRCA1 c.68_69delAG and c.5266dupC Mutations among Hormone Receptor-negative Breast Cancer Patients: A First Impression at a Tertiary Cancer-care Facility in Tanzania

et al. 2021

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“…A study in Central Sudan by Biunno et al [29] identified this mutation in 21/59 patients; a frequency that is similar to the one in this study, and one which suggests that this mutation may have entered the population due to the influence of the African populations. In Asian countries, such as Iran, a study confirmed the presence of this mutation in 50/88 women (7 with family history of cancer and 43 with sporadic cancer) [30]. Keshavarzi et al [31] investigated all exons and introns of BRCA1 in 85 women and reported that this mutation had a frequency of 21%.…”

Section: Discussionmentioning

confidence: 91%

Identification of Germinal Mutations in Eight Exons of the BRCA1 Gene in Breast Cancer Patients in the State of Amazonas, Using Direct Sequencing

Rocha¹,

Benzaquem²,

Fantin³

2020

JPP

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Mutations in the BRCA1 gene are responsible for 50% of cases of hereditary breast cancer. The objective of this study was to perform screening of mutations in the BRCA1 gene in breast cancer patients treated in the state of Amazonas, Brazil. We analyzed 53 patients (51 women and 2 men) ranging from 30 to 71 years of age. Most of these patients were born in the state of Amazonas,and had a family history for predisposition to cancer and evidenced hormonal risk factor. The alterations found in the exons of the gene that were studied were verified in three online databases for this gene (ClinVar, BRCA Exchange and Varsome). A total of four mutations were identified: missense mutation c.4304T > C exon 13 (16 patients), missense mutation c.4837A > G exon 16 (25 patients), frameshift mutation c.5266dupC exon 20 (1 patient) and intronic mutation c.5277+48_5277+59dup (1 patient). Of the 53 patients studied, 26 were carriers of mutations, and only one patient presented the Ashkenazi founder mutation c.5266dupC; a mutation already identified in genetic studies in the Brazilian population. The mutation c.4837A>G occurred in 25 patients ruling out the possibility of being deleterious. Two of the mutations reported in this study do not yet have data on their molecular mechanisms in the literature, and thus demand further study in order to obtain a better understanding of the role of these mutations in the BRCA1 gene in the Brazilian population, as well as for the rest of world.

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Mutations analysis of BRCA1 gene in patients with breast cancer in South Khorasan province, East Iran

Abstract: Background among women disease in Iran. mutations in BR elucidated in B Khorasan Prov Methods: In BRCA1 was ca longer ones. Results: Tw 4837A>G) wa frequency rate familial BC and Conclusion: missense mutat

Cited by 2 publications

References 19 publications

Absence of Germline BRCA1 c.68_69delAG and c.5266dupC Mutations among Hormone Receptor-negative Breast Cancer Patients: A First Impression at a Tertiary Cancer-care Facility in Tanzania

Absence of Germline BRCA1 c.68_69delAG and c.5266dupC Mutations among Hormone Receptor-negative Breast Cancer Patients: A First Impression at a Tertiary Cancer-care Facility in Tanzania

Identification of Germinal Mutations in Eight Exons of the BRCA1 Gene in Breast Cancer Patients in the State of Amazonas, Using Direct Sequencing

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