An Update on Inherited Colon Cancer and Gastrointestinal Polyposis

Plevová, Pavlína

doi:10.14735/amko2019s97

Cited by 6 publications

(5 citation statements)

References 55 publications

(101 reference statements)

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“…In total, 20 genes with mononucleotide (mono-), dinucleotide (di-), trinucleotide (tri-), tetranucleotide (tetra-), pentanucleotide (penta-) or compound (more than one type of repeat motif) MSs were selected for screening. Cancer-associated genes, including ARID1A, APC, BAX, BRAF, CDKN1A, CDX2, CTNNB1, ERBB2, E2F4, MCC, PTN, PTEN, PRR11, RUNX3, TGFBRII and TP53, which have been reported to be associated with GC in the literature, and MMR genes, including MSH2, MLH1, MGMT and PMS2, were included in the present study (24)(25)(26)(27)(28)(29)(30)(31). In total, 91 MS loci were selected from the 5' untranslated region (UTR), intron, exon or 3'UTR of these 20 genes using the SSRHunter software (v1.3) (Li Qiang, Nanjing Agricultural University) and manual searching (Table SI), then primers for each selected MS were designed based on the flanking sequence using Primer Blast in the Pubmed website (https://www.ncbi.nlm.nih.gov/tools/primer-blast/index.…”

Section: Ms Analysismentioning

confidence: 99%

Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity in tumor‑related genes in gastric cancer

et al. 2021

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Microsatellite instability (MSI) detection is widely used in the diagnosis and prognosis evaluation of colorectal cancer. However, for gastric cancer (GC), there is no standard panel of microsatellites (MSs) used in clinical guidance. The present study aimed to identify useful predictors of the clinical features and for the prognosis of GC, based on an investigation of MSI and loss of heterozygosity (LOH) in tumor-related genes. First, from 20 tumor-related genes which were proven to be important to the development of GC, 91 MSs were identified, and PCR amplification, short tandem repeat scanning analysis and TA clone sequencing were used to analyze MSI and LOH in the first set of 90 GC samples. Subsequently, the same method was used to detect the MSI/LOH of the optimized loci in the second set of 136 GC samples. MSI/LOH in the mismatch repair genes was highly consistent with that in oncogenes and tumor suppressor genes, respectively. The length of the core sequence was a main factor for the MSI/LOH rate. The MSI of 12 single loci was significantly associated with lymph node metastasis. The MSI in TP53-1 and the LOH in MGMT-10 were significantly associated with early stages of tumor infiltration depth. The LOH in MGMT-10, PTN-2 and MCC-17 was significantly associated with TNM stage. The LOH in TP53-1 and ERBB2-12 was associated with adenocarcinoma. The MSI/LOH in 6 single loci of 5 tumor-related genes was associated with poor prognosis of GC. The present study demonstrated that the MSI/LOH of loci in tumor-associated genes was associated with 4 clinicopathological characteristics and outcomes of GC. These results may provide potential specific biomarkers for the clinical prediction and treatment of GC.

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Section: Ms Analysismentioning

confidence: 99%

Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity in tumor‑related genes in gastric cancer

et al. 2021

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“…These results suggest that STK11 on chromosome 19 is responsible for PJS and that a mutation or decreased expression of STK11 is the cause of the disease [66][67][68] .…”

Section: Stk11/lkb1 and Pjsmentioning

confidence: 87%

Role of the Serine/Threonine Kinase 11 (STK11) or Liver Kinase B1 (LKB1) Gene in Peutz-Jeghers Syndrome

Altamish

Dahiya

Singh

et al. 2020

Crit Rev Eukaryot Gene Expr

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Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps, and characteristic mucocutaneous freckling. PJS, an autosomal prevailing disease due to genetic mutation on chromosome 19p, manifested by restricted mucocutaneous melanosis in association with gastrointestinal (GI) polyposis. The gene for PJS has recently been shown to be a serine/threonine kinase, known as LKB1 or STK11, which maps to chromosome subband 19p13.3. This gene has a putative coding region of 1302 bp, divided into nine exons, and acts as a tumour suppressor in the hamartomatous polyps of PJS patients and in the other neoplasms which develop in PJS patients. It is probable that these neoplasms develop from hamartomas, but remains possible that the LKB1 or STK11 locus plays a role in a different genetic pathway of tumour growth in the cancers of PJS patients. This article has focused on role of LKB1 or STK11 gene expression in PJS and related cancers.

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“…FAP is an autosomal dominant genetic disease caused by mutations in APC [ 25 ]. As of April 2019, 1765 (2037) pathogenic APC mutations were recorded in the free version of the HGMD database.…”

Section: Discussionmentioning

confidence: 99%

“…In addition to gastrointestinal endoscopic monitoring, regular inspection of other organs is particularly important because the disease spectrum due to APC mutation may involve disorders of multiple organs outside the intestine. For example, the incidence of desmoid tumors, osteoma, and epidermoid cysts is significantly higher in individuals carrying mutations in APC codons 1395–1493 than in individuals with mutations in codons 177–452, and the development of hepatoblastoma and/or brain tumors occurs when the pathogenic variant is located only in codons 457–1309 [ 25 , 36 , 38 , 39 ]. Cancer in the mutation afflicted area is the main cause of death in FAP patients, and a biopsy should be performed in this area regardless of whether the mucosa is normal.…”

Section: Discussionmentioning

confidence: 99%

Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype

Xie¹,

Ruan

Zhang

et al. 2021

Canadian Journal of Gastroenterology and Hepatology

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A large number of colorectal cancers have a genetic background in China. However, due to insufficient awareness, the diagnostic rate remains low and merely 5-6% of colorectal cancer patients are diagnosed with hereditary colorectal cancer. Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disease caused by mutations in the adenomatous polyposis coli (APC) gene. Different mutation sites in APC are associated with the severity of FAP, risks of carcinogenesis, and extraintestinal manifestations. We used next-generation sequencing (NGS) and capture techniques to screen suspected mutation points in the proband in this pedigree. Using modified Sanger sequencing, we identified members of the family who were carriers of this variant and whether this segregated well with disease occurrence. FAP family members had multiple adenomatous polyps in their gastrointestinal tracts, some of which developed into cancer with age. Two subjects presented a rare common bile duct polyp phenotype. No extraintestinal manifestations were observed. A heterozygous frameshift mutation in APC exon 16 (NM_000038.6) was observed in the proband and in other patients: c.3260_3261del (p.Leu1087GlnQfs ∗ 31) (rs587782305); the variant call format was CCT/C. Due to the deletion of two bases, a stop codon appeared after 31 amino acids, and the protein was truncated prematurely, which affected the conformation of the protein. Pedigree genetic linkage analysis showed that the clinical phenotype cosegregated with the APC mutation p.L1087fs. This mutation may be the pathogenic in this FAP family and responsible for this rare common bile duct polyp.

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An Update on Inherited Colon Cancer and Gastrointestinal Polyposis

Cited by 6 publications

References 55 publications

Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity in tumor‑related genes in gastric cancer

Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity in tumor‑related genes in gastric cancer

Role of the Serine/Threonine Kinase 11 (STK11) or Liver Kinase B1 (LKB1) Gene in Peutz-Jeghers Syndrome

Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype

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