BRCA1 polymorphism in breast cancer patients from Argentina

Jaure, Omar; Alonso, Ernesto; Braico, Diego Aguilera; Nieto, A.E.; Orozco, Manuela; C, Morelli; Ferro, Alejandro; Barutta, Elena; Vincent, E. Chris; Martínez, Domingo; Martı́nez, Ignacio; Maegli, Maria Ines; Frizza, Alejandro; Kowalyzyn, Ruben; Salvadori, Marisa; Ginestet, Paul; Donna, Maria L. Gonzalez; Balogh, Gabriela Andrea

doi:10.3892/ol.2014.2772

Cited by 8 publications

(5 citation statements)

References 20 publications

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“…VUSs in BRCA1 are a type of variants whose functions in protein level are yet to be survived. However, BRCA1 polymorphisms may affect protein, causing it to lose function, and thereby to increase the risk of developing breast cancer (6).…”

Section: Introductionmentioning

confidence: 99%

Investigating of variations in BRCA1 gene in Iranian families with breast cancer

Mehrgou

Akouchekian

Hemati

2018

Med. J. Islam. Repub. Iran

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Background: Breast cancer is one of the most common cancers among Iranian women whose relationship with mutation status in BRCA1 is previously approved. Therefore, screening of the most mutated exons in BRCA1 in hereditary breast cancer patients provides beneficial information about the main disease-causing reason. Methods: A total of 14 Iranian hereditary breast cancer patients participated in this case series study. DNA was extracted from patients’ blood samples for PCR assay. The quality of PCR products was determined using horizontal electrophoresis. Then, sequencing and analysis of the sequencing results were performed to investigate variation status in the sequences. Results: Five variants in 4 patients were found, including 1 pathogenic variant in exon 16 (H1686Q, NM_007294.3:c.5058T>A) and 4 novel intronic variants of uncertain significance (NC_000017.11:41228314G>T, NC_000017.11:41228309C>T, NC_000017.11:41228317G>T, and NC_000017.11:41203042G>A) in BRCA1. This study was the first to report 1 rare pathogenic variant in BRCA1 (H1686Q, NM_007294.3: c.5058T>A) in an Iranian family as the main disease-causing reason. Another interesting finding was non-existence of variations in almost all globally-reported and mutated exons in BRCA1. Conclusion: Investigation of these exons in BRCA1 showed the uniqueness of mutation pattern in Iranian breast cancer patients compared to other world regions. Due to the existence of other BRCA1 exons and also other predisposing genes in breast cancer, the main cause of cancer development in other participants might have been put in those exons and genes. We concluded that the most mutated exons in BRCA1 in Iranian population may not be the same as those found in other parts of the world.

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Section: Introductionmentioning

confidence: 99%

Investigating of variations in BRCA1 gene in Iranian families with breast cancer

Mehrgou

Akouchekian

Hemati

2018

Med. J. Islam. Repub. Iran

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“…We have found sequences reported as polymorphic at both BRCA1 and BRCA2 , presumably with no pathogenic effect (Domchek and Greenberg ; Jaure et al. ) (Table ). Many BRCA1 single nucleotide polymorphisms (SNPs) result in amino acid changes.…”

Section: Discussionmentioning

confidence: 84%

Mutational analysis ofBRCA1andBRCA2genes in Peruvian families with hereditary breast and ovarian cancer

Buleje

Guevara‐Fujita

Acosta

et al. 2017

Mol Genet Genomic Med

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BackgroundBreast cancer is one of the most prevalent malignancies in the world. In Peru, breast cancer is the second cause of death among women. Five to ten percent of patients present a high genetic predisposition due to BRCA1 and BRCA2 germline mutations.MethodsWe performed a comprehensive analysis of BRCA1 and BRCA2 genes by Sanger sequencing and multiplex ligation‐dependent probe amplification (MLPA) to detect large rearrangements in patients from 18 families, which met the criteria for hereditary breast cancer.ResultsIn this series, we found four pathogenic mutations, three previously reported (BRCA1: c.302‐1G>C and c.815_824dup10; BRCA2: c.5946delT) and a duplication of adenines in exon 15 in BRCA1 gene (c.4647_4648dupAA, ClinVar SCV000256598.1). We also found two exonic and four intronic variants of unknown significance and 28 polymorphic variants.ConclusionThis is the first report to determine the spectrum of mutations in the BRCA1/BRCA2 genes in Peruvian families selected by clinical and genetic criteria. The alteration rate in BRCA1/BRCA2 with proven pathogenic mutation was 22.2% (4 out 18) and this finding could be influenced by the reduced sample size or clinical criteria. In addition, we found three known BRCA1/BRCA2 mutations and a BRCA1 c.4647_4648dupAA as a novel pathogenic mutation.

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“…Chakraborty et al also confirmed the absence of mutation by Sanger sequencing 8 . Only family positive cases were selected because inherited mutations in high penetrance BRCA genes closely correlated with an increased risk of breast cancer in different ethnic and age groups 14 .…”

Section: Discussionmentioning

confidence: 99%

A Study of BRCA1 Gene Exon 2 Mutation in Bangladeshi Female Breast Cancer Patients

Basu¹,

Yesmin²,

Hossain

et al. 2022

ABCMed

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Background: Breast cancer is the most common malignancy and leading cause of death among women in Bangladesh. Mutations in BRCA genes increase the risk for breast cancer. A large number of distinct mutations and polymorphisms in the BRCA1 gene have been reported worldwide, a frameshift mutation in BRCA1 gene exon 2 (185delAG) is one of the commonly reported mutations. Therefore, the study was planned to determine the frequencies of mutation and polymorphisms in BRCA1 gene exon 2. Materials and Methods: A cross-sectional descriptive type of study was done on 100 adult Bengali Bangladeshi female patients with ductal carcinoma of breast of age range between 25 to 70 years by ‘selection checklist.’ Genomic DNA was isolated from the peripheral blood samples. Amplification of the desired sequence of BRCA1 exon 2 was checked in gel and then digested with restriction endonuclease enzyme (Hinfl). The fragments obtained were analyzed on a gel and photographed under UV light. Sanger sequencing was done on 10 blood samples for confirmation. Sequenced data was analyzed by Geneious Software version 11. Results: The onset of cancer was predominantly below 50 years and 44% of patients did not experience menopause as they developed cancer at a younger age. Gel photographs after enzyme digestion showed wild-type bands of 149bp in all samples. The chromatogram reveals wild-type sequence of exon 2 of BRCA1 gene. Conclusions: BRCA1 mutation status helps us in the cancer risk prediction, selection of therapeutic management and genetic counseling of the patients and families. Therefore, it is necessary to study the whole BRCA1 gene in our population.

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BRCA1 polymorphism in breast cancer patients from Argentina

Cited by 8 publications

References 20 publications

Investigating of variations in BRCA1 gene in Iranian families with breast cancer

Investigating of variations in BRCA1 gene in Iranian families with breast cancer

Mutational analysis ofBRCA1andBRCA2genes in Peruvian families with hereditary breast and ovarian cancer

A Study of BRCA1 Gene Exon 2 Mutation in Bangladeshi Female Breast Cancer Patients

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