Analysis of novel mutations in<i>BRCA1</i>in Iranian families with breast cancer

Sadr‐Nabavi, Ariane; Dastpak, Mahtab; Homaei-Shandiz, Fatemeh; Bahrami, Ahmad Reza; Bidkhori, Hamid Reza; Raeesolmohaddeseen, Mahmood

doi:10.1111/hrd2.00040

Cited by 6 publications

(5 citation statements)

References 19 publications

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“…The incidence rate of breast cancer varies in different geographical regions (2). According to Annual Iranian National Cancer Registration Report 2008-2009, breast cancer among Iranian women, has been registered as the second and first most common cancer, with the incidence rate of 11.31% and 24.86%, respectively (3).…”

Section: Introductionmentioning

confidence: 99%

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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%

“…BRCA1 is located on chromosome 17q, and any mutations or changes in this gene can lead to increased risk of breast and ovarian cancers (2, 3).…”

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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“…For example, BRCA1 c.2286A>T (p.Arg762Ser) is classified as a VUS in ClinVar (Table ). This variant has been previously reported in the literature in individuals of East Asian ancestry and has 14 observations in the Exome Aggregation Consortium database. This literature is referenced in ClinVar, and the absence of evidence of variant pathogenicity likely resulted in its uncertain classification.…”

Section: Resultsmentioning

confidence: 53%

Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory

et al. 2017

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With the increasing use of clinical genetic testing for hereditary cancer risk, accurate variant classification is vital to ensuring appropriate medical management. There is a growing move to consult public databases following receipt of a genetic test result from a clinical laboratory; however, we show that up to 26.7% of variants in and have discordant classifications between ClinVar and a reference laboratory. The findings presented in this paper serve as a note of caution regarding the utility of database consultation.

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“…Different studies in Iran demonstrated various alterations of BRCA1 and BRCA2 genes. In our previous study we had introduced a novel mutation in Khorasan papulation (accession number BankIt1473921 JN686490) (14). However, due to the sequencing of nine patients in present study, not only we found out submitted mutation, but also, no novel mutations did not determine in BRCA1 gene exons.…”

Section: Discussionmentioning

confidence: 53%

Correlation of Heterozygote risk, Pathological risk and lifetime risk with Clinicopathologic Features in Iranian breast cancer patients

Ardalan¹,

Dastpak²,

Shandiz³

et al. 2017

The Cancer Press

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Breast cancer is a common malignancy comprising 24.4% of all cancers and is the leading cause of death among Iranian women (1, 2). Approximately 5-10% of all breast cancers are attributable to the strong hereditary susceptibility, highly penetrant genes, such as BRCA1/2 (3).Women carrying germ line mutations in these genes have an extremely high lifetime risk of developing breast and/or ovarian cancer (4). Among Carriers of BRCA1/2 mutations, the Lifetime risk of breast cancer is 56% to 84% by age 70 (4-7). Estimation the mutation probability is important for various Breast cancer is a prevalent malignancy among women worldwide and a principle reason of death in Iranian women. In current study, 64 Iranian women diagnosed with breast cancer and classified into four age groups (<35 years, 35-49 years, 50-64 years and >65 years) were analyzed for correlation between heterozygote risk and lifetime risk with clinicopathological features. Nine patients were also investigated for BRCA1 germline mutations. Our results indicated that people with hetrozygosity risk over 30% more likely to infect invasive ductal carcinoma and utilization of Cyrillic software for Iranian family would open new sights towards the prediction, prognosis and mutation detection. Keywords

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Analysis of novel mutations inBRCA1in Iranian families with breast cancer

Cited by 6 publications

References 19 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

Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory

Correlation of Heterozygote risk, Pathological risk and lifetime risk with Clinicopathologic Features in Iranian breast cancer patients

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