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Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.
Wang Z, Liu S, Liu S, Wang Y, Chen J, Wu B. Wang Z, et al. BMC Med Genet. 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9. BMC Med Genet. 2018. PMID: 29720104 Free PMC article.
RESULTS: In this family, the STK11 exon 1 deletion (c.-1114-?_290 +?del) was predicted to affect the kinase domain of the protein and co-segregated with the disease phenotype. ...
RESULTS: In this family, the STK11 exon 1 deletion (c.-1114-?_290 +?del) was predicted to affect the kinase domain of the protein and …
Detection of disease-causing mutations in prostate cancer by NGS sequencing.
Mangolini A, Rocca C, Bassi C, Ippolito C, Negrini M, Dell'Atti L, Lanza G, Gafà R, Bianchi N, Pinton P, Aguiari G. Mangolini A, et al. Cell Biol Int. 2022 Jul;46(7):1047-1061. doi: 10.1002/cbin.11803. Epub 2022 Apr 6. Cell Biol Int. 2022. PMID: 35347810 Free PMC article.
Truncating mutations of ATM, lesions lying in hot spot regions of SPOP and FOXA1 as well as mutations of TP53 correlated with poor prognosis. Importantly, we have also found some germline mutations associated with hereditary cancer-predisposing syndrome. gDNA sequencing of …
Truncating mutations of ATM, lesions lying in hot spot regions of SPOP and FOXA1 as well as mutations of TP53 correlated with poor progno …
Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.
Vidal AF, Ferraz RS, El-Husny A, Silva CS, Vinasco-Sandoval T, Magalhães L, Raiol-Moraes M, Barra WF, Pereira CLBL, de Assumpção PP, de Brito LM, Vialle RA, Santos S, Ribeiro-Dos-Santos Â, Ribeiro-Dos-Santos AM. Vidal AF, et al. BMC Cancer. 2021 Apr 7;21(1):363. doi: 10.1186/s12885-021-08089-9. BMC Cancer. 2021. PMID: 33827469 Free PMC article.
Overall, 54 (76.05%) individuals presented at least one variant uncertain significance (VUS), totalizing 81 VUS. Of these, seven were predicted to have disease-causing potential. CONCLUSION: Overall, analysis of all these genes in NGS-panel allowed the identification not o …
Overall, 54 (76.05%) individuals presented at least one variant uncertain significance (VUS), totalizing 81 VUS. Of these, seven were pre …
NBN Gene Analysis and it's Impact on Breast Cancer.
Nithya P, ChandraSekar A. Nithya P, et al. J Med Syst. 2019 Jul 5;43(8):270. doi: 10.1007/s10916-019-1328-z. J Med Syst. 2019. PMID: 31278556
The association of NBN gene polymorphism leads to several diseases was studied. Four SNPs were predicted to be highly damaged in coding regions which are responsible for the diseases such as, Aplastic Anemia, Nijmegan breakage syndrome, Microsephaly normal intelligence, im …
The association of NBN gene polymorphism leads to several diseases was studied. Four SNPs were predicted to be highly damaged in codi …
Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.
Islam MJ, Parves MR, Mahmud S, Tithi FA, Reza MA. Islam MJ, et al. Comput Biol Chem. 2019 Jun;80:31-45. doi: 10.1016/j.compbiolchem.2019.03.004. Epub 2019 Mar 12. Comput Biol Chem. 2019. PMID: 30884445
From 205 nsSNPs in BMPR1A, 7 nsSNPs (C76Y, C124R, C124Y, C376Y, R443C, R480W, and W487R) were predicted as deleterious in 8 prediction algorithms. The Consurf analysis showed that selected 7 nsSNPs were present in the highly conserved regions. ...
From 205 nsSNPs in BMPR1A, 7 nsSNPs (C76Y, C124R, C124Y, C376Y, R443C, R480W, and W487R) were predicted as deleterious in 8 predic …