Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
8.0
4.5
Journals
Cancers
Special Issues
Research Advances in Genetic Variants Associated with Cancer
share announcement

Research Advances in Genetic Variants Associated with Cancer

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Causes, Screening and Diagnosis".

Deadline for manuscript submissions: closed (29 February 2024) | Viewed by 4722

Special Issue Editors

Dr. Rachel Michaelson-Cohen

E-Mail Website
Guest Editor
Medical Genetics Institute, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel
Interests: hereditary breast and ovarian cancer; BRCA; gynecologic cancer; genetic-based risk calculation and management; genomic educatio
Prof. Dr. Yael Goldberg

E-Mail Website
Guest Editor
Rabin Medical Center, The Raphael Recanati Genetic Institute, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel
Interests: cancer genetics; Lynch syndrome; genetics of colorectal cancer; tumor–germline interphase; cancer genomics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Over the preceding years, there have been significant advances in the molecular analysis of genetic predisposition for cancer. Advanced technologies not only provide novel genomic insights, but also allow personalized strategies for risk estimation, screening, prevention, and therapy.

We invite scholars in the field to submit original research articles and reviews to this Special Issue that discuss recent advances in genetic variants associated with cancer, as well as challenges that we face in the era of cancer genomics; the use of advanced technologies in deciphering genetics of carcinogenesis; the interphase between tumor and germline genetics; genotype–phenotype correlation; variant penetrance and expression; tools for variant classification; genetic-based risk calculation and management ; tools for the optimal use of cancer genetics in the implementation of cancer genetics.

Dr. Rachel Michaelson-Cohen
Prof. Dr. Yael Goldberg
Guest Editors

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. Cancers is an international peer-reviewed open access semimonthly 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 2900 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

  • cancer genetics
  • genomics
  • germline variants
  • variants of uncertain significance
  • genotype–phenotype correlation
  • genetic-based risk calculation

Published Papers (4 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

10 pages, 773 KiB  
Article
KRAS Exon 2 Mutations in Patients with Sporadic Colorectal Cancer: Prevalence Variations in Mexican and Latin American Populations
by José Luis Venegas-Rodríguez, Jesús Arturo Hernández-Sandoval, Melva Gutiérrez-Angulo, José Miguel Moreno-Ortiz, Anahí González-Mercado, Jorge Peregrina-Sandoval, Helen Haydee Fernanda Ramírez-Plascencia, Beatriz Armida Flores-López, Carlos Rogelio Alvizo-Rodríguez, Jesús Alonso Valenzuela-Pérez, Sergio Cervantes-Ortiz and María de la Luz Ayala-Madrigal
Cancers 2024, 16(13), 2323; https://doi.org/10.3390/cancers16132323 - 25 Jun 2024
Viewed by 955
Abstract
We searched for the prevalence of actionable somatic mutations in exon 2 of the KRAS gene in western Mexican patients with CRC. Tumor tissue DNA samples from 150 patients with sporadic CRC recruited at the Civil Hospital of Guadalajara were analyzed. Mutations in [...] Read more.
We searched for the prevalence of actionable somatic mutations in exon 2 of the KRAS gene in western Mexican patients with CRC. Tumor tissue DNA samples from 150 patients with sporadic CRC recruited at the Civil Hospital of Guadalajara were analyzed. Mutations in exon 2 of the KRAS gene were identified using Sanger sequencing, and the data were analyzed considering clinical–pathological characteristics. Variants in codon 12 (rs121913529 G>A, G>C, and G>T) and codon 13 (rs112445441 G>A) were detected in 26 patients (with a prevalence of 17%). No significant associations were found between these variants and clinical–pathological characteristics (p > 0.05). Furthermore, a comprehensive search was carried out in PubMed/NCBI and Google for the prevalence of KRAS exon 2 mutations in Latin American populations. The 17 studies included 12,604 CRC patients, with an overall prevalence of 30% (95% CI = 0.26–0.35), although the prevalence ranged from 13 to 43% across the different data sources. Determining the variation and frequency of KRAS alleles in CRC patients will enhance their potential to receive targeted treatments and contribute to the understanding of the genomic profile of CRC. Full article
(This article belongs to the Special Issue Research Advances in Genetic Variants Associated with Cancer)
►▼ Show Figures

Figure 1

12 pages, 699 KiB  
Article
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort
by Aasem Abu Shtaya, Inbal Kedar, Samar Mattar, Ahmad Mahamid, Lina Basel-Salmon, Sarit Farage Barhom, Sofia Naftaly Nathan, Nurit Magal, Noy Azulay, Michal Levy Zalcberg, Rakefet Chen-Shtoyerman, Ori Segol, Mor Seri, Gili Reznick Levi, Shiri Shkedi-Rafid, Chana Vinkler, Iris Netzer, Ofir Hagari Bechar, Liat Chamma, Sari Liberman and Yael Goldbergadd Show full author list remove Hide full author list
Cancers 2024, 16(1), 94; https://doi.org/10.3390/cancers16010094 - 24 Dec 2023
Cited by 1 | Viewed by 910
Abstract
Founder pathogenic variants (PVs) are prevalent in Israel. This study investigated the current practice of offering cancer patients two-step genetic testing, starting with targeted testing for recurring founder PVs, followed, if negative, by next-generation sequencing. A total of 2128 subjects with cancer or [...] Read more.
Founder pathogenic variants (PVs) are prevalent in Israel. This study investigated the current practice of offering cancer patients two-step genetic testing, starting with targeted testing for recurring founder PVs, followed, if negative, by next-generation sequencing. A total of 2128 subjects with cancer or a positive family history underwent oncogenetic testing with a panel of 51 recurring PVs at a tertiary medical center in March 2020–January 2023. Those with a known familial PV (n = 370) were excluded from the analysis. Among the remainder, 128/1758 (7%) were heterozygous for at least one variant, and 44 (34%) carried a PV of medium-high penetrance (MHPV). Cancer was diagnosed in 1519/1758 patients (86%). The diagnostic yield of founder MHPV testing was 2% in cancer patients and 4% in healthy individuals with a positive family history. It was higher in Ashkenazi Jews than non-Ashkenazi Jews and Arabs, but not over 10% for any type of cancer, and it was significantly higher in younger (<40 years) than older (>50 years) individuals (7% vs. 1%). Eighty-four of the heterozygotes (66%), mostly Ashkenazi Jews, harbored a low-penetrance variant (LPV) not associated with the diagnosed cancer, usually APC c.3902T>A. These findings question the advantage of two-step testing. LPVs should not be included in targeted testing because this can lead to an overestimation of the yield, and their detection does not preclude further comprehensive testing. Full article
(This article belongs to the Special Issue Research Advances in Genetic Variants Associated with Cancer)
►▼ Show Figures

Figure 1

12 pages, 987 KiB  
Article
Assessment of STAT4 Variants and Risk of Hepatocellular Carcinoma in Latin Americans and Europeans
by Alan Ayoub, Chimaobi M. Anugwom, Jhon Prieto, Domingo Balderramo, Javier Diaz Ferrer, Angelo Z. Mattos, Marco Arrese, Enrique Carrera, Zwier M. A. Groothuismink, Jeffrey Oliveira, Andre Boonstra and Jose D. Debes
Cancers 2023, 15(18), 4530; https://doi.org/10.3390/cancers15184530 - 12 Sep 2023
Cited by 2 | Viewed by 906
Abstract
Hepatocellular carcinoma (HCC) is the third leading cause of cancer death worldwide. The STAT4 rs7574865 genetic variant has been associated with an increased risk of developing HCC in Asian populations. However, this association has not been studied in Latin America and is poorly [...] Read more.
Hepatocellular carcinoma (HCC) is the third leading cause of cancer death worldwide. The STAT4 rs7574865 genetic variant has been associated with an increased risk of developing HCC in Asian populations. However, this association has not been studied in Latin America and is poorly assessed in European populations. This case-control study investigated the association between STAT4 rs7574865 and HCC risk in these populations. We evaluated DNA samples from seven medical institutions across six Latin American countries and one Dutch institution in 1060 individuals (344 HCC and 716 controls). STAT4 rs7574865 SNP was genotyped using TaqMan-genotyping assay and analyzed using logistic regression. We found no significant association between the homozygous risk allele (G) of STAT4 and HCC development in either population, with odds ratios (OR) for GG versus TT of 0.85 (CI: 0.48–1.52, p = 0.58) and 0.81 (CI: 0.34–1.93, p = 0.67) for Latin Americans and Europeans respectively. No correlation was found between the risk allele and HCC based on underlying liver disease. However, we found that Latin Americans of European ancestry were more likely to carry the risk allele. Our results suggest that the STAT4 SNP rs7574865 does not influence the risk of developing HCC in Latin American or European populations, highlighting the importance of evaluating genetic risk factors in various ethnic groups and understanding the possible influence of ancestry on the genetic basis of disease. Full article
(This article belongs to the Special Issue Research Advances in Genetic Variants Associated with Cancer)
►▼ Show Figures

Figure 1

20 pages, 10182 KiB  
Article
Microbial Communities in Gynecological Cancers and Their Association with Tumor Somatic Variation
by Jesus Gonzalez-Bosquet, Megan E. McDonald, David P. Bender, Brian J. Smith, Kimberly K. Leslie, Michael J. Goodheart and Eric J. Devor
Cancers 2023, 15(13), 3316; https://doi.org/10.3390/cancers15133316 - 23 Jun 2023
Viewed by 1607
Abstract
There are strong correlations between the microbiome and human disease, including cancer. However, very little is known about potential mechanisms associated with malignant transformation in microbiome-associated gynecological cancer, except for HPV-induced cervical cancer. Our hypothesis is that differences in bacterial communities in upper [...] Read more.
There are strong correlations between the microbiome and human disease, including cancer. However, very little is known about potential mechanisms associated with malignant transformation in microbiome-associated gynecological cancer, except for HPV-induced cervical cancer. Our hypothesis is that differences in bacterial communities in upper genital tract epithelium may lead to selection of specific genomic variation at the cellular level of these tissues that may predispose to their malignant transformation. We first assessed differences in the taxonomic composition of microbial communities and genomic variation between gynecologic cancers and normal samples. Then, we performed a correlation analysis to assess whether differences in microbial communities selected for specific single nucleotide variation (SNV) between normal and gynecological cancers. We validated these results in independent datasets. This is a retrospective nested case-control study that used clinical and genomic information to perform all analyses. Our present study confirms a changing landscape in microbial communities as we progress into the upper genital tract, with more diversity in lower levels of the tract. Some of the different genomic variations between cancer and controls strongly correlated with the changing microbial communities. Pathway analyses including these correlated genes may help understand the basis for how changing bacterial landscapes may lead to these cancers. However, one of the most important implications of our findings is the possibility of cancer prevention in women at risk by detecting altered bacterial communities in the upper genital tract epithelium. Full article
(This article belongs to the Special Issue Research Advances in Genetic Variants Associated with Cancer)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-4
Back to TopTop