Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients

Khachibi, Meryam El; Diakité, Bréhima; Hamzi, Khalil; Badou, Abdallah; Senhaji, Mohamed Amine; Bakhchane, Amina; Jouhadi, H.; Barakat, Abdelhamid; Benider, Abdellatif; Nadifi, Sellama

doi:10.1186/s12885-015-1040-4

Cited by 18 publications

(14 citation statements)

References 15 publications

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“…analysis has been demonstrated to be useful for the diagnosis of lung adenocarcinoma (45) and Moroccan breast cancer (46); Studies using HRM analysis showed heterozygous mutations in COL1A1 and COL1A2 genes are associated with osteogenesis imperfecta (47).…”

Section: Discussionmentioning

confidence: 99%

High-resolution melting analysis for rapid and sensitive NOTCH1 screening in chronic lymphocytic leukemia

Yao

Jiang

et al. 2017

International Journal of Molecular Medicine

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Chronic lymphocytic leukemia (CLL) is a biological and clinical heterogeneous disease. Activating mutations of NOTCH1 have been implicated to be associated with adverse prognosis in CLL. The objective of the present study was to develop an effective high-resolution melting (HRM) assay for detecting NOTCH1 mutations. Genomic DNA (gDNA) extracted from 133 CLL patients was screened by HRM assay, and the results were compared with the data obtained using direct sequencing. The relative sensitivity of the HRM assay and direct sequencing was evaluated using diluted gDNA with different NOTCH1 mutational frequencies. The HRM assay was able to detect and discriminate samples with NOTCH1 mutations from the wild-type template in CLL. Eight of the 133 CLL patients (6.02%) were scored positively for NOTCH1 mutations in the HRM assay. The results of the NOTCH1 mutations detected by HRM analysis achieved 100% concordance with those determined from direct sequencing. HRM had a higher sensitivity (1%) and shorter turn-around time (TAT), compared to direct sequencing. In conclusion, the HRM assay developed by us was confirmed to be a rapid, sensitive, and promising approach for high-throughput prognostic NOTCH1 screening in CLL. It enables real-time NOTCH1 evaluation, which is of great significance in clinical practice and may facilitate the decision-making of clinicians in CLL.

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Section: Discussionmentioning

confidence: 99%

High-resolution melting analysis for rapid and sensitive NOTCH1 screening in chronic lymphocytic leukemia

Yao

Jiang

et al. 2017

International Journal of Molecular Medicine

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“…BRCA1 is characterized by a zinc-binding RING finger domain at the amino terminus and BRCA1 carboxyl terminal (BRCT) domain at the carboxyl terminus (Zheng et al, 2000). Among the 22 exons, exon11 having 3426bp, is a large central exon of BRCA1 gene and represents about 60% of the coding sequences (Khachibi et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Identification of Mutation in Exon11 of BRCA1 Gene in Bangladeshi Patients with Breast Cancer

Nishat

Yesmin

Arjuman

et al. 2019

Asian Pac J Cancer Prev

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Background: Worldwide, breast cancer is the leading cause of cancer death in female, in Bangladesh breast cancer is the second leading cancer in both sexes, and in women it occupied the top position. Highly penetrant mutations in BRCA1 gene constitute high risk of breast cancer. The spectrum of BRCA1 gene mutations varies in different population. The objective of this study was to identify mutation in exon11 of BRCA1 gene in Bangladeshi breast cancer patients. Methods: Genomic DNA was extracted from the histopathologically diagnosed formalin fixed paraffin embedded (FFPE) breast cancer tissues of 65 adult female patients. Two regions of exon11 of the BRCA1 gene were amplified and the amplicons were sequenced using Sanger sequencing. The sequenced nucleotides were analyzed and blast using NCBI nucleoblast. Selected demographic, reproductive and medical histories were collected and analyzed using SPSS version 20. Results: The mean age of the patients was 46 years and the mean age at diagnosis was 44.64 years. The patients were married and had 2.65 ± 1.22 children except one was nulliparous, the mean age of menarche was 12.67 years. All patients had children, breastfed the babies for an average 1.5 years. Only 13.6% of the patients had hypertension and the rest had no comorbidity. The family history for cancer (breast and other cancer) was negative. Three novel mutations were found in a patient. Two among the three mutant sequences had effect on amino acid coding (DNA sequence change g.852G>C and g.709G>A and amino acid changes p.Gln284His and p.Glu237Lys respectively). Conclusion: We found three novel mutations in Bangladeshi breast cancer patients. This finding indicates the necessity to study the mutation profile of whole BRCA1 gene in our population for cancer risk prediction.

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“…Studies using HRM analysis showed that methylation of the BRCA1 promoter in peripheral blood DNA is associated with triple-negative and medullary breast cancer 11 . It has been reported that screening BRCA1 gene using HRM analysis was used for diagnosis of moroccan breast cancer 12 and lung adenocarcinoma 13 .…”

Section: Resultsmentioning

confidence: 99%

Identification of gene mutation in patients with osteogenesis imperfect using high resolution melting analysis

Wang

Ren

Bai

et al. 2015

Sci Rep

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Osteogenesis imperfecta (OI), a congenital bone disorder, is caused by mutations in COL1A1 and COL1A2 genes, leading to deficiency of type I collagen. The high resolution melting (HRM) analysis has been used for detecting mutations, polymorphisms and epigenetic alteration in double-stranded DNAs. This study was to evaluate the potential application of HRM analysis for identifying gene mutations in patients with OI. This study included four children with OI and their parents and fifty normal people as controls. Blood samples were collected for HRM analysis of PCR-amplified exons and flanking DNA sequences of COL1A1 and COL1A2 genes. Direct gene sequencing was performed to validate HRM-identified gene mutations. As compared to controls, HRM analysis of samples form children with OI showed abnormal melting curves in exons 11 and 33–34 of the COL1A1 gene and exons 19 and 48 of the COL1A2 gene, which indicates the presence of heterozygous mutations in COL1A1 and COL1A2 genes. In addition to two known mutations in the COL1A2 gene, c.982G > A and c.3197G > T, sequencing analysis identified two novel mutations in the COL1A1 gene, c.2321delC and c.768dupC mutations, which function as premature stop codons. These results support future studies of applying HRM analysis as a diagnostic approach for OI.

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Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients

Cited by 18 publications

References 15 publications

High-resolution melting analysis for rapid and sensitive NOTCH1 screening in chronic lymphocytic leukemia

High-resolution melting analysis for rapid and sensitive NOTCH1 screening in chronic lymphocytic leukemia

Identification of Mutation in Exon11 of BRCA1 Gene in Bangladeshi Patients with Breast Cancer

Identification of gene mutation in patients with osteogenesis imperfect using high resolution melting analysis

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