Next generation sequencing analysis of BRCA1 and BRCA2 identifies novel variations in breast cancer
Yükleniyor...
Dosyalar
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier Inc.
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Mutations in two major breast cancer susceptibility genes, BRCA1 and BRCA2, have been identified to be the most important predisposing factors for the development of breast cancer. Thus, BRCA1/2 testing is a well-established method of choice for the assessment of developing breast cancer. Accordingly, here we aimed to report novel BRCA1/2 variations and distribution of previously known mutations and their association with the clinical course of breast cancer disease. A total of 287 breast cancer patients were enrolled from January 2017 through December 2019. Of these patients, 50 of them were identified to be positive for BRCA1/2. Next Generation Sequencing analysis was performed for the screening of exonic and intronic variations of BRCA1/BRCA2 genes. Notably, novel variations of 4448 G > A (Ser1843Asn) in BRCA1, and 982dupA (Thr328AspfsTer) and 7588C > T (Gln2530Ter) in BRCA2 gene were identified. The most common variations in BRCA1 gene were 5152 + 66G > A, 442-34C > T and 5266dupC. In BRCA2 gene, the most common variations were 9097dupA, 67 + 1G > A and 1114A > C. Novel variations of BRCA1 and BRCA2 genes were identified in breast cancer and might be useful predisposing factors in breast cancer diagnosis. © 2020 Elsevier Inc.
Açıklama
Anahtar Kelimeler
BRCA1, BRCA2, Breast cancer, Next generation sequencing, NGS, asparagine, aspartic acid, BRCA1 protein, BRCA2 protein, epidermal growth factor receptor 2, estrogen receptor, glycine, Ki 67 antigen, progesterone receptor, serine, threonine, BRCA1 protein, BRCA1 protein, human, BRCA2 protein, BRCA2 protein, human, adult, amino acid substitution, Article, breast cancer, cancer patient, cancer susceptibility, disease course, exon, family history, female, gene duplication, gene mutation, genetic association, genetic variation, high throughput sequencing, human, intron, major clinical study, male, middle aged, tumor suppressor gene, adolescent, aged, breast tumor, genetic predisposition, genetics, mutation, pathology, young adult, Adolescent, Adult, Aged, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Female, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Mutation, Young Adult
Kaynak
Life Sciences
WoS Q Değeri
Q1
Scopus Q Değeri
Q1
Cilt
261
