A study of mechanistic mapping of novel SNPs to male breast cancer

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dc.contributor.authorKaur, R.P
dc.contributor.authorKumar, V
dc.contributor.authorShafi, G
dc.contributor.authorVashistha, R
dc.contributor.authorKulharia, Mahesh
dc.contributor.authorMunshi, Aanjan
dc.date.accessioned2019-09-03T09:20:31Z
dc.date.accessioned2024-08-13T11:13:34Z
dc.date.available2019-09-03T09:20:31Z
dc.date.available2024-08-13T11:13:34Z
dc.date.issued2019
dc.description.abstractAlterations 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. © 2019, Springer Science+Business Media, LLC, part of Springer Nature.en_US
dc.identifier.citationKaur, R.P., Kumar, V.,and Shafi, G.et.al.A study of mechanistic mapping of novel SNPs to male breast cancer.36(8).10.1007/s12032-019-1290-0en_US
dc.identifier.doi10.1007/s12032-019-1290-0
dc.identifier.issn13570560
dc.identifier.urihttp://10.2.3.109/handle/32116/2401
dc.identifier.urlhttps://link.springer.com/article/10.1007%2Fs12032-019-1290-0
dc.language.isoenen_US
dc.publisherHumana Press Inc.en_US
dc.subjectGermline variationsen_US
dc.subjectMale breast canceren_US
dc.subjectMolecular dynamics simulationen_US
dc.subjectNovel missense alterationsen_US
dc.subjectSNPsen_US
dc.titleA study of mechanistic mapping of novel SNPs to male breast canceren_US
dc.title.journalMedical Oncologyen_US
dc.typeArticleen_US
dc.type.accesstypeClose Accessen_US

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