A study of mechanistic mapping of novel SNPs to male breast cancer.
Raman Preet KaurVicky KumarGowhar ShafiRajesh VashisthaMahesh KulhariaAnjana MunshiPublished in: Medical oncology (Northwood, London, England) (2019)
Alterations in BRCA2, PALB2, CHEK2, and p53 genes have been identified for their association with male breast cancer in various studies. The incidence of male breast cancer in India is consistent with its global rate. The present study was carried out with an aim to evaluate the genetic alterations in male breast cancer patients from Malwa region of Punjab, India. Four male breast cancer patients belonging to different families were recruited from Guru Gobind Singh Medical College and Hospital, Faridkot, India. A total of 51 genes reported with implications in the pathogenesis of breast cancer were screened using next generation sequencing. Germline variations were found in BRCA1, BRCA2, PMS2, p53, and PALB2 genes, previously reported to be associated with MBC as well as FBC. In addition to these, 13 novel missense alterations were detected in eight genes including STK11, FZR1, PALB2, BRCA2, NF2, BAP1, BARD1, and CHEK2. Impact of these missense alterations on structure and function of protein was also analyzed through molecular dynamics simulation. Structural analysis of these single nucleotide polymorphisms (SNPs) revealed significant impact on the encoded protein functioning.
Keyphrases
- genome wide
- breast cancer risk
- molecular dynamics simulations
- dna methylation
- genome wide identification
- healthcare
- bioinformatics analysis
- signaling pathway
- protein protein
- gene expression
- oxidative stress
- binding protein
- amino acid
- high resolution
- single cell
- immune response
- transcription factor
- lps induced
- pi k akt
- electronic health record
- genome wide association
- childhood cancer