Involvement of chromosome 5 in large bowel cancer

A D Panani1, A Ferti-Passantonopoulou, S Raptis

  • 1Second Department of Internal Medicine, Propaedeutic of Athens University, Evangelismos Hospital, Greece.

Insights

Researchers studied large bowel cancer cases and found deletions in chromosome 5q12-22 in three patients. This specific chromosomal region may play a role in a subset of colorectal cancers.

Area of Science:

  • Genetics
  • Oncology
  • Cytogenetics

Background:

  • Colorectal cancer (CRC) is a significant global health concern.
  • Cytogenetic abnormalities are crucial in understanding cancer development.
  • Specific chromosomal deletions are implicated in various cancer types.

Purpose of the Study:

  • To investigate chromosomal deletions in large bowel cancer.
  • To identify specific chromosomal regions associated with colorectal cancer subtypes.

Main Methods:

  • Cytogenetic analysis of 30 large bowel cancer cases.
  • Detailed examination of chromosomal aberrations, focusing on chromosome 5.

Main Results:

  • Three out of 30 cases exhibited deletions on chromosome 5.
  • Two cases showed interstitial deletion of 5q, and one had a terminal deletion.
  • The deleted segment in all three cases was consistently identified as 5q12-22.

Conclusions:

  • The segment 5q12-22 is a potential critical region in a subgroup of colorectal cancers.
  • Further research into this specific chromosomal deletion may elucidate novel therapeutic targets.

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Tumor Progression02:07

Tumor Progression

Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...