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Advances in Genetics of Colorectal Cancer (CRC)
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Advances in Genetics of Colorectal Cancer (CRC)

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 September 2022) | Viewed by 15833

Special Issue Editor

Prof. Revital Kariv

E-Mail Website
Guest Editor
Cancer Biology Research Center, Tel Aviv University, P.O. Box 39040, Tel Aviv 6997801, Israel
Interests: hereditary GI cancers; colorectal cancer; next-generation sequencing; whole exome analysis; APC gene

Special Issue Information

Dear Colleagues,

As the Guest Editor of the Special Issue “Advances in the Genetics of Colorectal Cancer (CRC)” by the journal Genes, I am delighted to invite you to contribute an original research or review article that addresses this evolving topic.

Colorectal cancer genetics research has taken a sharp turn since the era of next-generation sequencing (NGS), with an incredible volume of information and the discovery of new genetic alterations related to colorectal neoplasia, risk prediction algorithms, interaction of genetics with lifestyle, and more. However, clinical practice is trying to catch up with the vast information in order to give sound screening and surveillance recommendations, predict risks, and personalize treatment.

Due to your professional interest in this topic, we would be privileged to receive a manuscript from your group related to the above topic. Papers submitted will be subjected to peer review.

I anticipate your positive response.

Sincerely,

Prof. Revital Kariv
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • colorectal cancer
  • colonic polyps
  • polyposis
  • hereditary CRC
  • lynch syndrome
  • mismatch repair
  • next generation sequencing
  • mutation
  • genetic variants
  • SNP
  • gene panel
  • whole exome and genome sequencing

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Published Papers (4 papers)

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Research

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14 pages, 2080 KiB  
Article
Efficacy of Wholistic Turmeric Supplement on Adenomatous Polyps in Patients with Familial Adenomatous Polyposis—A Randomized, Double-Blinded, Placebo-Controlled Study
by Ophir Gilad, Guy Rosner, Dana Ivancovsky-Wajcman, Reut Zur, Rina Rosin-Arbesfeld, Nathan Gluck, Hana Strul, Dana Lehavi, Vivien Rolfe and Revital Kariv
Genes 2022, 13(12), 2182; https://doi.org/10.3390/genes13122182 - 22 Nov 2022
Cited by 5 | Viewed by 7863
Abstract
Several studies have demonstrated that curcumin can cause the regression of polyps in familial adenomatous polyposis (FAP), while others have shown negative results. Wholistic turmeric (WT) containing curcumin and additional bioactive compounds may contribute to this effect. We performed a double-blinded, randomized, controlled [...] Read more.
Several studies have demonstrated that curcumin can cause the regression of polyps in familial adenomatous polyposis (FAP), while others have shown negative results. Wholistic turmeric (WT) containing curcumin and additional bioactive compounds may contribute to this effect. We performed a double-blinded, randomized, controlled trial to assess the efficacy of WT in FAP patients. Ten FAP patients were randomly assigned to receive either WT or placebo for 6 months. Colonoscopies were performed at baseline and after 6 months. The polyp number and size, as well as the cumulative polyp burden, were assessed. No differences were noted between the groups in terms of changes from the baseline’s polyp number, size, or burden. However, stratifying the data according to the right vs. left colon indicated a decrease in the median polyp number (from 5.5 to 1.5, p = 0.06) and polyp burden (from 24.25 mm to 11.5 mm, p = 0.028) in the left colon of the patients in the WT group. The adjusted left polyp number and burden in the WT arm were lower by 5.39 (p = 0.034) and 14.68 mm (p = 0.059), respectively. Whether WT can be used to reduce the polyp burden of patients with predominantly left-sided polyps remains to be seen; thus, further larger prospective trials are required. Full article
(This article belongs to the Special Issue Advances in Genetics of Colorectal Cancer (CRC))
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19 pages, 4370 KiB  
Article
Genetic Variation in DEAD-Box Helicase 20 as a Putative Marker of Recurrence in Propensity-Matched Colon Cancer Patients
by Yahya H. Hobani, Amany I. Almars, Walla Alelwani, Eman A. Toraih, Nader A. Nemr, Aly A. M. Shaalan, Manal S. Fawzy and Samy M. Attallah
Genes 2022, 13(8), 1404; https://doi.org/10.3390/genes13081404 - 7 Aug 2022
Cited by 3 | Viewed by 2575
Abstract
Variants of the DEAD-Box Helicase 20 (DDX20), one of the microRNAs (miRNAs) machinery genes, can modulate miRNA/target gene expressions and, hence, influence cancer susceptibility and prognosis. Here, we aimed to unravel the association of DDX20 rs197412 T/C variant with colon cancer risk and/or [...] Read more.
Variants of the DEAD-Box Helicase 20 (DDX20), one of the microRNAs (miRNAs) machinery genes, can modulate miRNA/target gene expressions and, hence, influence cancer susceptibility and prognosis. Here, we aimed to unravel the association of DDX20 rs197412 T/C variant with colon cancer risk and/or prognosis in paired samples of 122 colon cancer and non-cancer tissue specimens by TaqMan allelic discrimination analysis. Structural/functional bioinformatic analyses were carried out, followed by a meta-analysis. We found that the T allele was more frequent in cancer tissues compared to control tissues (60.2% vs. 35.7%, p < 0.001). Furthermore, the T variant was highly frequent in primary tumors with evidence of recurrence (73% vs. 47.5%, p < 0.001). Genetic association models, adjusted by age and sex, revealed that the T allele was associated with a higher risk of developing colon cancer under heterozygote (T/C vs. C/C: OR = 2.35, 95%CI = 1.25–4.44, p < 0.001), homozygote (T/T vs. C/C: OR = 7.6, 95%CI = 3.5–16.8, p < 0.001), dominant (T/C-T/T vs. C/C: OR = 3.4, 95%CI = 1.87–8.5, p < 0.001), and recessive (T/T vs. C/C-T/C: OR = 4.42, 95%CI = 2.29–8.54, p = 0.001) models. Kaplan–Meier survival curves showed the shift in the C > T allele to be associated with poor disease-free survival. After adjusting covariates using a multivariate cox regression model, patients harboring C > T somatic mutation were 3.5 times more likely to develop a recurrence (p < 0.001). A meta-analysis of nine studies (including ours) showed a higher risk of CRC (81%) in subjects harboring the T/T genotype than in T/C + C/C genotypes, supporting the potential clinical utility of the specified study variant as a biomarker for risk stratification in CRC cases. However, results were not significant in non-colorectal cancers. In conclusion, the DDX20 rs197412 variant is associated with increased colon cancer risk and a higher likelihood of recurrence in the study population. Full article
(This article belongs to the Special Issue Advances in Genetics of Colorectal Cancer (CRC))
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Review

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7 pages, 213 KiB  
Review
The Second Allele: A Key to Understanding the Timing of Sporadic and Hereditary Colorectal Tumorigenesis
by Mohammed Ali Abbass, Brandie Leach and James Michael Church
Genes 2021, 12(10), 1515; https://doi.org/10.3390/genes12101515 - 26 Sep 2021
Cited by 5 | Viewed by 1947
Abstract
Our understanding of the molecular basis of colorectal neoplasia is derived from Mendelian genetics, with tumor suppressor genes contributing more to the deregulation of growth than oncogenes. In patients with hereditary syndromes, expression of one allele of a key tumor suppressor gene is [...] Read more.
Our understanding of the molecular basis of colorectal neoplasia is derived from Mendelian genetics, with tumor suppressor genes contributing more to the deregulation of growth than oncogenes. In patients with hereditary syndromes, expression of one allele of a key tumor suppressor gene is absent at birth. The loss of the expression of the second allele precipitates tumorigenesis. However, there are multiple ways in which the expression of the second allele of a tumor suppressor gene is lost. Here, we review these ways and their possible effect on phenotype. Full article
(This article belongs to the Special Issue Advances in Genetics of Colorectal Cancer (CRC))

Other

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6 pages, 1411 KiB  
Brief Report
Whole Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations
by Revital Kariv, Dvir Dahary, Yuval Yaron, Yael Petel-Galil, Mira Malcov and Guy Rosner
Genes 2022, 13(8), 1408; https://doi.org/10.3390/genes13081408 - 8 Aug 2022
Cited by 4 | Viewed by 2275
Abstract
Hamartomatous polyposis syndromes (HPS) are rare cancer-predisposing disorders including Juvenile polyposis (JPS), Peutz–Jeghers (PJS) and PTEN hamartomatous syndromes (PHS). Penetrant mutations in corresponding genes (SMAD4, BMPR1A, STK11, PTEN and AKT1), are usually diagnosed via a next-generation-sequencing gene panel (NGS-GP) for tailored surveillance and [...] Read more.
Hamartomatous polyposis syndromes (HPS) are rare cancer-predisposing disorders including Juvenile polyposis (JPS), Peutz–Jeghers (PJS) and PTEN hamartomatous syndromes (PHS). Penetrant mutations in corresponding genes (SMAD4, BMPR1A, STK11, PTEN and AKT1), are usually diagnosed via a next-generation-sequencing gene panel (NGS-GP) for tailored surveillance and preimplantation testing for monogenic disorders (PGT-M). Five probands with HPS phenotype, with no genetic diagnosis per genetic workup, underwent whole-genome sequencing (WGS) that identified structural genetic alterations: two novel inversions in BMPRA1 and STK11, two BMPR1A-deletions, known as founders among Bukharan Jews, and BMPR1A microdeletion. BMPR1A inversion was validated by “junction fragment” amplification and direct testing. PGT-M was performed via multiplex-PCR and enabled successful birth of a non-carrier baby. WGS may be considered for HPS patients with no NGS-GP findings to exclude structural alterations. Full article
(This article belongs to the Special Issue Advances in Genetics of Colorectal Cancer (CRC))
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