scholarly journals PMS2 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Pms2 Gene

A new PMS2 gene variant of unknown significance: How pathogenic is it?

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13532-e13532
Author(s):  
Clarissa Gondim Picanço-Albuquerque ◽  
Maria Júlia Barbosa Bezerra ◽  
Paulo Goberlanio de Barros Silva ◽  
Rosane Oliveira Sant'Ana ◽  
Maria Claudia dos Santos Luciano ◽  
...  
Keyword(s):  
Protein Structure ◽  
Family History ◽  
Familial Cancer ◽  
Gene Variant ◽  
Protein Structure Analysis ◽  
Dna Mismatch ◽  
Unknown Significance ◽  
Uncertain Significance ◽  
Gene Panels ◽  
Pms2 Gene

e13532 Background: The Lynch syndrome (LS) is the most common inherited syndrome associated with colorectal cancer (CRC). The hallmark of LS is DNA mismatch repair deficiency. The amount of variants of uncertain significance (VUS) in suspected LS confounds diagnosis, requiring surveillance of variant reclassifications. In this paper we describe a new and most likely pathogenic VUS in PMS2. Methods: Patient screened for personal and familial cancer and evaluated with NGS gene panels for 31 genes. The protein structure was analyzed with the software Pymol. Results: A woman diagnosed with breast cancer (BC) at 60 years and CRC at 65 years was investigated due to her extensive family history of cancer (21 maternal relatives), including 6/9 siblings [gastric n = 1, lung n = 1, BC n = 4 (one of whom with BC, endometrium and CRC)], 8/12 aunts and uncles, all of whom died of cancer (gastric n = 4, CRC n = 1, CNS n = 1, BC n = 1; uterus/gallbladder n = 1), and 7 cousins (CNS n = 3, lung n = 1, gastric n = 2, suspected ovary n = 1). The new PMS2 gene variant c.134A > G(p.Asn45Ser), which was also detected in two sisters with CRC submitted to segregation analysis, occupied the same locus as a known pathogenic variant, c.134A > C(p.Asn45Thr). The structural analysis showed that the mutated locus encodes a serine instead of an asparagine in position 45 at the enzyme’s active site. Asn 45 is a conserved amino acid that binds to ATP in protein structure (PDB = 1EA6). Interestingly, this is close to position 42-44, for which another potentially pathogenic VUS (p.Leu42_Glu44del) has been described. Conclusions: Based on our patient’s personal and family history and on the locus variant and protein structure analysis, the new PMS2 gene variant described in this paper is most likely pathogenic.

Promoter mutation analysis of PMS2 gene in solid tumors and acute leukemias

2019 ◽  
Vol 215 (10) ◽  
pp. 152583
Author(s):  
Ha Yoon Mo ◽  
Eun Ji Choi ◽  
Nam Jin Yoo ◽  
Sug Hyung Lee
Keyword(s):  
Solid Tumors ◽  
Mutation Analysis ◽  
Promoter Mutation ◽  
Acute Leukemias ◽  
Pms2 Gene

Abstract 2108: Prevalence of mutations in MSH6, PMS1 and PMS2 gene in Brazilian families with Lynch syndrome

2012 ◽  
Author(s):  
Felipe C. Silva ◽  
Giovana T. Torrezan ◽  
Bianca G. Lisboa ◽  
Erika M. Santos ◽  
Israel Gomy ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Pms2 Gene

Human PMS2 gene family: Origin, molecular evolution, and biological implications

2006 ◽  
Vol 408 (1) ◽  
pp. 175-179 ◽  
Author(s):  
D. G. Shpakovskii ◽  
E. K. Shematorova ◽  
G. V. Shpakovskii
Keyword(s):  
Molecular Evolution ◽  
Gene Family ◽  
Pms2 Gene

scholarly journals Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?

2013 ◽  
Vol 12 (3) ◽  
pp. 563-566 ◽  
Author(s):  
Mark Clendenning ◽  
◽  
Michael D. Walsh ◽  
Judith Balmana Gelpi ◽  
Stephen N. Thibodeau ◽  
...  
Keyword(s):  
Large Scale ◽  
Pms2 Gene
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