Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes

Wallander, Karin; Li, Wen; Holst, Susanna von; Thutkawkorapin, Jessada; Kontham, Vinaykumar; Forsberg, Anna; Lindblom, Annika; Lagerstedt‐Robinson, Kristina

doi:10.1002/gcc.22786

Cited by 6 publications

(9 citation statements)

References 31 publications

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“…Wallander et al [ 47 ] aimed to identify potential SNPs in patients with CRC, gastric cancer, or PCa. A total of 45 families with at least two members with CRC and at least one with PCa or gastric cancer were analyzed.…”

Section: Resultsmentioning

confidence: 99%

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Recent Insights on Genetic Testing in Primary Prostate Cancer

2021

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Prostate cancer (PCa) is one of the most common cancers in developed countries. The results of large trials indicate that the proportion of PCa attributable to hereditary factors is as high as 15%, highlighting the importance of genetic testing. Despite improved understanding of the prevalence of pathogenic variants among men with PCa, it remains unclear which men will most benefit from genetic testing. In this review, we summarize recent evidence on genetic testing in primary PCa and its impact on routine clinical practice. We outline current guideline recommendations on genetic testing, most importantly, for mutations in BRCA1/2, MMR, CHEK2, PALB2, and HOXB13 genes, as well as various single nucleotide polymorphisms associated with an increased risk of developing PCa. The implementation of genetic testing in clinical practice, especially in young patients with aggressive tumors or those with positive family history, represents a new challenge for the coming years and will identify men with pathogenic variants who may benefit from early screening/intervention and specific therapeutic options. Key PointsGenetic testing is an important part of personalized diagnosis and treatment of prostate cancer (PCa).Recent clinical studies have highlighted specific genes (e.g., BRCA 1/2, PALB2, CHEK, HOXB13) and single nucleotide polymorphisms as special genes of interest.One future goal of genetic testing is to detect men harboring an increased risk of lethal PCa.

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Section: Resultsmentioning

confidence: 99%

“…Families with both LS and polyposis syndrome in their history were excluded. The linkage analysis identified five potential loci for concordant SNPs, but further assessment of the exome did not reveal any potential pathologic sequence [ 47 ].…”

Section: Resultsmentioning

confidence: 99%

Recent Insights on Genetic Testing in Primary Prostate Cancer

2021

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“…We have previously used the Swedish population to search for cancer risk loci and could show higher odds ratios compared with previous GWAS. [24][25][26][27] We then used haplotype analysis as well as single nucleotide polymorphism (SNP) analysis and it was clear that when a founder haplotype was associated with risk, the OR was often higher than any SNP at that locus. We concluded that a haplotype could be better to define individuals at risk compared with SNPs.…”

Section: Introductionmentioning

confidence: 99%

“…Moreover, haplotype analysis did suggest that, sometimes, more than one risk factor could be involved at the same risk locus to influence risk. [24][25][26][27] To search for Swedish CRC risk haplotypes, samples from the Swedish Low-risk Colorectal Cancer Study were used. 28 The samples were included and genotyped within the CORECT consortium.…”

Section: Introductionmentioning

confidence: 99%

Colorectal cancer risk susceptibility loci in a Swedish population

Liu

Mahdessian

Helgadottir

et al. 2021

Molecular Carcinogenesis

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To search for colorectal cancer (CRC) risk loci, Swedish samples were used for a genome-wide haplotype analysis. A logistic regression model was employed in 2663 CRC cases and 1642 controls in the discovery analysis. Three analyses were done, on all, familial-, and nonfamilial CRC samples and only results with odds ratio (OR) > 1 were analyzed. single nucleotide polymorphism (SNP) analysis did not generate any statistically significant results. Haplotype analysis suggested novel loci, on chromosome 2q36.1 (OR = 1.71, p value = 5.6924 × 10 −8 ) in all CRC samples, chromosome 1q43 (OR = 4.04 p value = 3.24 × 10 −8 ) in familial CRC samples, and two hits in nonfamilial CRC samples, chromosomes 2q36.1 (OR = 1.71 p value = 5.69 × 10 −8 ) and 3p24.3 (OR = 1.62 p value = 6.21 × 10 −9 ). Moreover, one locus on chromosome 20q13.33 was suggested in analyses of all samples, and five more novel loci were suggested on chromosomes 10q25. 3, 15q,22.31, 17p11.2, 1p34.2, and 3q24. The haplotypes from the analysis of all samples were replicated in a second study of CRC cases and controls from the same part of Sweden. In summary, using haplotype analysis in Swedish CRC samples, the best hits were novel loci and the locus on chromosomes 2q36.1 and 20q13.33 suggested in the analysis of all samples were confirmed in a second cohort. The ORs were often higher than ORs from published genome-wide association study (GWAS). The study suggested it was possible that a risk locus could involve more than one gene, and that haplotypes could give information on the gene or genes possibly involved in the risk at specific locus.

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“…Evidence shows that the immune system plays a vital role in cancer occurrence and development [ 9 ]. Several studies have described a potential association between gene expression and the development of GC [ 10 , 11 , 12 ]. However, there has been no signature to systematically assess immune-relevant genes and predict the prognosis of patients with GC.…”

Section: Introductionmentioning

confidence: 99%

An immune-relevant signature of nine genes as a prognostic biomarker in patients with gastric carcinoma

Wang

Zhang

2020

Open Medicine

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BackgroundAs one of the most common malignant tumors worldwide, the morbidity and mortality of gastric carcinoma (GC) are gradually increasing. The aim of this study was to construct a signature according to immune-relevant genes to predict the survival outcome of GC patients using The Cancer Genome Altas (TCGA).MethodsUnivariate Cox regression analysis was used to assess the relationship between immune-relevant genes regarding the prognosis of patients with GC. The least absolute shrinkage and selection operator (LASSO) Cox regression model was used to select prognostic immune-relevant genes and to establish the signature for the prognostic evaluation of patients with GC. Multivariate Cox regression analysis and Kaplan–Meier survival analysis were used to assess the independent prognostic ability of the immune-relevant gene signature.ResultsA total of 113 prognostic immune-relevant genes were identified using univariate Cox proportional hazards regression analysis. A signature of nine immune-relevant genes was constructed using the LASSO Cox regression. The GC samples were assigned to two groups (low- and high risk) according to the optimal cutoff value of the signature score. Compared with the patients in the high-risk group, patients in the low-risk group had a significantly better prognosis in the TCGA and GSE84437 cohorts (log-rank test P < 0.001). Multivariate Cox regression analysis demonstrated that the signature of nine immune-relevant genes might serve as an independent predictor of GC.ConclusionsOur results showed that the signature of nine immune-relevant genes may potentially serve as a prognostic prediction for patients with GC, which may contribute to the decision-making of personalized treatment for the patients.

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Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes

Cited by 6 publications

References 31 publications

Recent Insights on Genetic Testing in Primary Prostate Cancer

Recent Insights on Genetic Testing in Primary Prostate Cancer

Colorectal cancer risk susceptibility loci in a Swedish population

An immune-relevant signature of nine genes as a prognostic biomarker in patients with gastric carcinoma

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