Colorectal cancer (CRC) is one of the most prevalent cancers affecting humans, with a complex genetic and environmental aetiology. Unlike cancers with known environmental, heritable, or sex-linked causes, sporadic CRC is hard to foresee and has no molecular biomarkers of risk in clinical use. One in twenty CRC cases presents with an established heritable component. The remaining cases are sporadic and associated with partially obscure genetic, epigenetic, regenerative, microbiological, dietary, and lifestyle factors. To tackle this complexity, we should improve the practice of colonoscopy, which is recommended uniformly beyond a certain age, to include an assessment of biomarkers indicative of individual CRC risk. Ideally, such biomarkers will be causal to the disease and potentially modifiable upon dietary or therapeutic interventions. Multi-omics analysis, including transcriptional, epigenetic as well as metagenomic, and metabolomic profiles, are urgently required to provide data for risk analyses. The aim of this article is to provide a perspective on the multifactorial derailment of homeostasis leading to the initiation of CRC, which may be explored via multi-omics and Gut-on-Chip analysis to identify much-needed predictive biomarkers.

/pdf/colon-cancer-from-epidemiology-to-prevention-1kmn1w0w.pdf

Colon Cancer: From Epidemiology to Prevention

Alopecia areata (AA) is one of the most prevalent autoimmune diseases affecting humans. Given that hair follicles are immune-privileged, autoimmunity can result in disfiguring hair loss. However, the genetic basis for AA in the Taiwanese population remains unknown.A genome-wide association study was conducted using a cohort of 408 AA cases and 8167 controls. To link variants to gene relationships, we used 882 SNPs (P<1E-05) within 74 genes that were associated with AA group to build the biological networks by IPA software. HLA diplotypes and haplotypes were analyzed using Attribute Bagging (HIBAG)-R package and chi-square analysis.Seven single nucleotide polymorphisms (SNPs) including LINC02006 (rs531166736, rs187306735), APC (rs112800832_C_CAT), SRP19 (rs139948960, rs144784670), EGFLAM (rs16903975) and LDLRAD3 (rs79874564) were closely associated with the AA phenotype (P<5E-08). Examination of biological networks revealed that these genomic areas are associated with antigen presentation signaling, B cell and T cell development, Th1 and Th2 activation pathways, Notch signaling, crosstalk signaling between dendritic cells and natural killer cells, and phagosome maturation. Based on human leukocyte antigen (HLA) genotype analysis, four HLA genotypes (HLA-B*15:01-*40:01, HLA-DQA1*01:02-*03:03, HLA-DQA1*01:02, and HLA-DQB1*02:01) were found to be associated with AA (adjusted p-value<0.05). HLA-DQA1*01:02 is the most significantly related gene in the Taiwanese population (adjusted p-value = 2.09E-05).This study successfully identified susceptibility loci associated with AA in the Taiwanese population. These findings not only shed light on the origins of AA within the Taiwanese context but also contribute to a comprehensive understanding of the genetic factors influencing AA susceptibility. 

Genome-Wide Association Study of Alopecia Areata in Taiwan: The Conflict Between Individuals and Hair Follicles

BackgroundConsumption of fibre, fruits and vegetables have been linked with lower colorectal cancer (CRC) risk. A genome-wide gene-environment (G × E) analysis was performed to test whether genetic variants modify these associations.MethodsA pooled sample of 45 studies including up to 69,734 participants (cases: 29,896; controls: 39,838) of European ancestry were included. To identify G × E interactions, we used the traditional 1--degree-of-freedom (DF) G × E test and to improve power a 2-step procedure and a 3DF joint test that investigates the association between a genetic variant and dietary exposure, CRC risk and G × E interaction simultaneously.FindingsThe 3-DF joint test revealed two significant loci with p-value <5 × 10−8. Rs4730274 close to the SLC26A3 gene showed an association with fibre (p-value: 2.4 × 10−3) and G × fibre interaction with CRC (OR per quartile of fibre increase = 0.87, 0.80, and 0.75 for CC, TC, and TT genotype, respectively; G × E p-value: 1.8 × 10−7). Rs1620977 in the NEGR1 gene showed an association with fruit intake (p-value: 1.0 × 10−8) and G × fruit interaction with CRC (OR per quartile of fruit increase = 0.75, 0.65, and 0.56 for AA, AG, and GG genotype, respectively; G × E -p-value: 0.029).InterpretationWe identified 2 loci associated with fibre and fruit intake that also modify the association of these dietary factors with CRC risk. Potential mechanisms include chronic inflammatory intestinal disorders, and gut function. However, further studies are needed for mechanistic validation and replication of findings.FundingNational Institutes of Health, National Cancer Institute. Full funding details for the individual consortia are provided in acknowledgments. 

Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer.

Colorectal cancer is one of the most common cancer types worldwide. Since colorectal cancer takes time to develop, its incidence and mortality can be treated effectively if it is detected in its early stages. As a result, non-invasive or invasive biomarkers play an essential role in the early diagnosis of colorectal cancer. Many experimental studies have been carried out to assess genetic, epigenetic, or protein markers in feces, serum, and tissue. It may be possible to find biomarkers that will help with the diagnosis of colorectal cancer by identifying the genes, RNAs, and/or proteins indicative of cancer growth. Recent advancements in the molecular subtypes of colorectal cancer, DNA methylation, microRNAs, long noncoding RNAs, exosomes, and their involvement in colorectal cancer have led to the discovery of numerous new colorectal cancer biomarkers. In small-scale investigations, most biomarkers appear promising. However, large-scale clinical trials are required to validate their effectiveness before routine clinical implementation. Hence, this review focuses on small-scale investigations and results of big data analysis that may provide an overview of the biomarkers for the diagnosis, therapy, and prognosis of colorectal cancer. 

An Updated Review on Molecular Biomarkers in Diagnosis and Therapy of Colorectal Cancer

Several single nucleotide polymorphisms (SNPs) associated with susceptibility to Hodgkin lymphoma (HL) and diffuse large B‐cell lymphoma (DLBCL) have been identified. The aim of this study was to identify susceptibility loci for HL and DLBCL in Polish patients. Altogether, DLBCL (n = 218 and HL patients (n = 224) and healthy individuals (n = 1181) were recruited. Lymphoma diagnosis was based on standard criteria. Genome‐wide association study (GWAS) was performed using pooled‐DNA samples on llumina Infinium Omni2.5 Exome‐8 v1.3, and selected loci were replicated by TaqMan SNP genotyping of individuals. GWAS detected thirteen and seven SNPs associated with DLBCL and HL, respectively. In the replication study, six and seven SNPs reached significance after correction for multiple testing in the DLBCL and HL cohorts, respectively. One and four SNPs associated with DLBCL and HL, respectively, were localized within, and two SNPs—near the major histocompatibility complex (MHC) region. In conclusion, the majority of loci associated with HL and DLBCL aetiology in previous studies have potential roles in immune function. Our pooled‐DNA GWAS enabled the identification of several susceptibility loci for DLBCL and HL in the Polish population; some of them were mapped within or adjacent to the MHC, and other associated SNPs were located outside the MHC.

Genetic associations with lymphomas in Polish patients: A pooled‐DNA genome‐wide association analysis

Despite great efforts, most of the genetic factors contributing to the risk of colorectal cancer (CRC) remain undetermined. Including small but homogenous populations in genome-wide association studies (GWAS) can help us discover new common risk variants specific to the studied population. In this study, including 465 CRC patients and 1548 controls, a pooled DNA samples-based GWAS was conducted in search of genetic variants associated with CRC in a Polish population. Combined with a new method of selecting single-nucleotide polymorphisms (SNPs) for verification in individual DNA samples, this approach allowed the detection of five new susceptibility loci not previously reported for CRC. The discovered loci were found to explain 10% of the overall risk of developing CRC. The strongest association was observed for rs10935945 in long non-coding RNA LINC02006 (3q25.2). Three other SNPs were also located within genes (rs17575184 in NEGR1, rs11060839 in PIWIL1, rs12935896 in BCAS3), while one was intergenic (rs9927668 at 16p13.2). An expression quantitative trait locus (eQTL) bioinformatic analysis suggested that these polymorphisms may affect transcription factor binding sites. In conclusion, four of the identified variants were located within genes likely involved in tumor invasiveness and metastasis. Therefore, they could possibly be markers of poor prognosis in CRC patients.

https://www.mdpi.com/2079-7737/10/6/465/pdf

GWAS Links New Variant in Long Non-Coding RNA LINC02006 with Colorectal Cancer Susceptibility.

Introduction. Small intestine cancers are a difficult oncological problem. Lack of specific symptoms and difficulties with accessing the location even for advanced diagnostic techniques delay the diagnosis and implementation of appropriate treatment. Aim. Analysis of incidence, clinical symptoms, diagnostic methods and results of treatment of small intestine tumors in the material of the Maria Sklodowska-Curie Institute — Oncology Center (MSCI) in Warsaw. Material and method. A retrospective analysis of 54 patients undergoing surgery for small intestine tumor in the years 2006–2015. The evaluated group consisted of 26 (48%) males, 28 (52%) females, median age was 63.5 ± 13.5 years (23–86). Results. In the study group 18 (33%) cases of sarcomas were found, including 16 (30%) cases of GIST. The remaining cases were diagnosed as: adenocarcinoma — 13 patients (24%), neuroendocrine tumor (NET) — 8 (15%), malignant melanoma — 6 (11%), lymphoma — 3 (6%) and benign tumors — 6 (11%). Symptoms included gastrointestinal bleeding (55.5%), abdominal pain (48%), weight loss (31.5%), nausea (30%), vomiting (24%), flatulence (24%), inte­stinal passage disturbances (15%). In 70% of patients anemia was diagnosed, which in 33% required an average of 4.5 packed red blood cells (PRBC) units (range 1–100) to be transfused before treatment. The test that led to diagnosis was in 26 (48%) cases computed tomography, in 8 (15%) cases capsule endoscopy and in 5 (9%) cases double-balloon enteroscopy. Partial resection of the small intestine with regional lymph nodes was performed in 38 patients (70%), local excision in 5 (9%) patients and anastomosis gastric pass in 4 (7%) patients. So far, 17 (31%) deaths have been reported in this group of patients. 5-year survival was 93.8% for sarcomas, 53.9% for SIC, 66.7% for GEP-NET. Conclusions. Partial resection of the small intestine remains the basic method of radical surgical treatment. Both diagnostics and treatment should be carried out in reference centers.

/pdf/diagnostics-and-treatment-of-small-intestine-tumors-in-our-28cd41w5rd.pdf

Diagnostics and treatment of small intestine tumors in our own experience

Introduction. Metastatic tumors in the pancreas constitute a small (2–5%), but steadily growing percentage of all neoplasms of this organ. The aim of the study was to analyze the surgical treatment of metastases in the pancreas, in particular its effectiveness and the risk of surgical complications. Material and methods. The retrospective analysis was performed on 21 patients treated surgically in three surgical centers. This group included 16 women (76%) and 5 men (24%). The median age at the time of diagnosis of the underlying disease was 55.5 years (41–71). We analyzed the location of secondary lesions, their size, number, type and radicality of surgical intervention, histopathological diagnosis of the disease, as well as the occurrence of postoperative complications. Results. The starting point for metastatic lesions in 16 patients (76%) was renal cell carcinoma (RCC), in other cases — skin melanoma, eyeball melanoma, adenocarcinoma of the rectum, non-small-cell bronchi carcinoma. R0 radical surgery was performed in 15 patients (74%) and perioperative mortality was 5% (1 patient died). The median total survival time was 151 months (10–342), with 168 months for RCC (25–344) and 62 months for the remaining cancers (10–241). Conclusions. The main factor that determines the patient’s future fate is the type of primary neoplasm and surgical treatment of metastatic tumors in the pancreas is the best solution for selected RCC cases.

/pdf/metastatic-tumors-of-pancreas-whether-and-when-surgical-2fqnlv3j5h.pdf

Metastatic tumors of pancreas — whether and when surgical intervention is gainful for diseased people. Retrospective analysis of data from three surgery centers

Introduction. Two randomized studies on the use of a gentamicin-collagen sponge (GRM01/1997 and GRM02/2007) in rectal cancer surgery showed a statistically significant decrease in the rate of distant metastases in the experimental group and a similar rate of local recurrences. The objective of the presented study was a retrospective evaluation of the effect of the GRM use on the observed rate of generalized recurrences, disease-free survival (DFS), overall survival (OS) and cancer-specific survival (CSS) – depending on the length of the interval between radiotherapy and surgery. Materials and methods. The study comprised 239 patients, included previously into randomized studies, in whom the 5 x 5 Gy radiotherapy was used. In 204 people, the surgery was made within 7 days of the completion of radiotherapy (group A). The remaining group of 35 patients were operated on after 4–8 weeks (group B). The follow-up period was 5 years. The statistical analysis was made with the Kaplan-Meier test. The value of α = 0.05 was degfined as the threshold of statistical significance. Results. In both groups, there were no statistical differences between the patients operated on with the use of GRM and those operated on without the use of GRM. The analysis took into consideration the most significant parameters, which could affect the oncological results, (ypTNM, lympho-vascular invasion (LVI), blood vessel invasion (BVI). In group A, the use of GRM was connected with a lower rate of metachronic distant metastases (p = 0.002; RR 0.41; 95% CI [0.24–0.72]), the prolongation of DFS (p = 0.008; HR 2.16; 95% CI [1.20–3.83]) and of CSS (p = 0.010; HR 2.37; 95% CI [1.20–4. 67]). No such relationships were observed in group B. Conclusions. The use of GRM decreases the risk of distant metastases and has an influence on the prolongation of recurrence free survival, but only when surgery is carried out within 7 days of the completion of irradiation.

/pdf/long-term-results-of-randomized-studies-on-the-use-of-a-1nnkreaogy.pdf

Long-term results of randomized studies on the use of a gentamicin-collagen sponge in rectal cancer – depending on the length of time between the completion of radiotherapy and the surgery

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GWAS Links New Variant in Long Non-Coding RNA LINC02006 with Colorectal Cancer Susceptibility.

Diagnostics and treatment of small intestine tumors in our own experience

Metastatic tumors of pancreas — whether and when surgical intervention is gainful for diseased people. Retrospective analysis of data from three surgery centers

Long-term results of randomized studies on the use of a gentamicin-collagen sponge in rectal cancer – depending on the length of time between the completion of radiotherapy and the surgery