Cancer Genes

Chromosome 1 is the largest human chromosome, constituting approximately 249 million base pairs. Chromosome 1 is the largest metacentric chromosome, with “p” and “q” arms of the chromosome almost similar in length. Chromosome 1 abnormalities or inclusion of any mutations leads to developmental defects, mental, psychological, cancer, etc., among the most common diseases. 1/10th of the genes in chromosome 1 have been reported its involvement in cancer growth and development. These cancer genes result from chromosomal rearrangement, fusion genes, somatic mutations, point mutation, gene insertion, gene deletion, and many more. Some of these cancer-causing genes appear to be involved in cancer more often, and other novel genes are also enlisted in this chapter.

The human chromosome 2 was formed by a head-to-head fusion mutation caused by two chromosomes of our ancestors. The gorilla and chimpanzee contain 48 chromosomes in contrast to 46 chromosomes in humans. Ten million years ago, the two chromosomes of apes underwent telomere-to-telomere fusion that gave rise to human chromosome 2. Apart from the exciting history, the human chromosome 2 is involved in various genetic conditions caused due to chromosomal deletions and duplications, leading to SATB2 (Special AT-rich sequence-binding protein 2)-associated syndrome, MBD5 (Methyl-CpG-binding domain 5)-associated neurodevelopmental disorder, 2q37 deletion syndrome, partial trisomy 2, myelodysplastic syndrome as well as cancer. These mutations cause different human abnormalities, such as craniofacial anomalies, cleft palate, genitourinary tract anomalies, microcephaly, hypotonia, heart defects, anemia, and myeloid malignancies. This chapter discusses 50 genes of human chromosome 2 involved in various cancer types.

Myriad genes in the genome have been implicated in cancer. However, a focused compilation of genes from the same chromosome would provide a valuable detailed yet succinct catalog for researchers, advantageous in quickly understanding the leading roles played by these genes in cancer. This chapter fulfills the above aim of furnishing a pocket dictionary- like a concise yet meticulous explanation of many genes from Chromosome 3, describing these genes’ functional essentialities in various cancers. Such a judicious collection of genes from a single chromosome is probably the first of its kind. The multiple inputs in this chapter from Chromosome 3 include oncogenes (BCL6, RAF1), tumor suppressor genes (SRGAP3, FHIT), transcription factors (FOXP1, MITF), fusion genes (MECOM), and many other types. With approximately 1085 genes spanning 198 million base pairs, Chromosome 3 constitutes 6.5% of the total DNA.

Chromosome 4 represents around 6 percent of the total DNA in the cell with 191 million DNA base pairs. Genetic changes in chromosome 4, such as somatic mutation, and chromosomal rearrangement like translocation, gene deletion, etc., have been reported to develop several types of cancer. This includes leukemias, multiple myeloma, oesophageal squamous cell carcinoma, prostate cancer, breast cancer, bladder cancer, etc. In this chapter, we have listed genes residing in chromosome 4, which further frequently support cancer development, progression, and metastasis.

Chromosome 5 presents an extensive collection of genes, and includes several cancer-associated ones. The contribution of chromosome 5 in abnormalities is evident through somatic translocations, germline, somatic, and, in some instances, expression of genes. Various syndromes are associated with chromosome 5, such as 5q minus syndrome, leading to the development of acute myeloid leukemia, PDGFRBassociated chronic eosinophilic leukemia contributing to acute myeloid leukemia, and myelodysplastic syndromes. Studies propose that a few genes on chromosome 5 play important roles withinside the increase and department of cells. When chromosome segments are deleted, as in a few instances of AML and MDS, those crucial genes are missing. Without those genes, cells can develop and divide too speedy and in an out-o- -control way. Researchers are trying to perceive the genes on chromosome five that might be associated with AML and MDS.

Chromosome 6 is among the 23 pairs of chromosomes in humans and it spans about 170 million base pairs. Several cancer genes have been identified to have a role in cancer development. Cancer is also a genetic disease caused due to changes in the genes that control cell function, such as cell division and cell growth. Most of these cancer genes either act as tumor suppressors or possess an oncogenic potential. Oncogenes like ROS1, MYB, HMGA1, etc., induce tumorigenesis by playing a role in DNA repair, replication, transcriptional regulation, and mRNA splicing. When these genes are highly expressed, they result in the transformation of normal cells to malignant cells; on the other side, tumor suppressor genes like IGF2R, AIM1, IRF4, etc., reduce tumorigenicity and invasive potential. Thus, reduced expression of these genes due to loss of heterozygosity, deletion or any epigenetic modifications can induce tumor formation. Also, some genes can either suppress or induce tumor formation given the cellular location and condition, such as CCN2, TNF, etc. Along with these, different types of structural abnormalities can be observed on chromosome 6, such as chromosomal translocation, deletion, duplication, and inversion. These abnormalities on both p and q arms have been known to contribute to the growth and spread of cancer by impacting the expression of cancer genes. Aberrant expression of the genes can also be influenced by fusions, missense mutations, non-missense mutations, silent mutations, frame-shift deletions, and insertion at the molecular level. Some genes can maintain stem-cell-like properties by regulating the expression of cell surface markers like Oct4, Nanog, Sox4, etc. This chapter explains important cancer genes, genetic mutations, and gene variations that can influence the risk of having cancer and induces cancer formation.

Chromosome 7 consists of 159 million base pairs, and around 950 genes, representing at least 5 percent of the entire DNA in a cell. Various genes that regulate cell division and cellular growth are present in Chromosome 7. Aberrations in these genes can therefore lead to tumorigenesis. Lymphomas and Leukemia have been frequently correlated with abnormalities on chromosome 7. Aberrations in chromosome 7, such as aneusomy in prostate cancer, gene amplifications in gastric cancer, and chromosomal gain in glioblastoma, are some of the starkly real ramifications of genetic abnormalities on chromosome 7. Numerous essential genes from Chromosome 7, including ABCB5, BRAF, CDK6, EGFR, ETV1, EZH2, IL6, and TWIST1, involved in cancer have been explained in this chapter.

Chromosome 8 spans more than 146 million DNA base pairs, and represents between 4.5 and 5 percent of the total DNA in cells. Sixteen percent of these genes and their mutations have been identified to play a role in cancer development. Cancer is a genetic disease at the somatic cell level. Multiple gene mutations usually precede them throughout one’s life. Oncogenes such as Myc, Lyn, Atad2, etc., from chromosome 8 promoted cancer cell proliferation, invasion, and migration. The increased expression of these proteins can transform a normal cell into a cancer cell. Chromosome 8 also houses multiple tumor suppressor genes, such as Dlc1, E2f5, Gata4, Ido1, etc. These proteins, when expressed, reduce the chances of tumor initiation within cells. Thus, mutations leading to the reduced expression of these genes are associated with multiple cancers. Mutation of other functional genes like Ank1, Ctsb, Ext1, Il7, etc., has also been implicated in various cancers for their role in increasing the invasive nature of cancers by regulating angiogenesis and facilitating cancer metastasis. Cancers can also stem from the translocational mutations of genes in chromosome 8. This chapter explains essential cancer genes, genetic mutations, and gene variations that can cause an increased risk of cancer and its progression.

Chromosome 9 represents approximately 4.5 percent of the total DNA in cells, and it’s a submetacentric type of chromosome. Chromosomal abnormalities in chromosome 9 have been reported in different kinds of cancer, for example, deletion of the long-q arm, a fusion of ABL1 with BCR results in the ABL1-BCR fusion gene, etc. Bladder cancer, chronic myeloid leukemia, etc., are several cancer types resulting from genetic changes in the genes present in chromosome 9. Dysregulation of the tumor suppressor genes or activation of the oncogene from chromosome 9 has supported the normal cell’s transformation. Here, we have listed a few top genes reappearing themselves as causative agent for cancer development in cancer and types of cancer.

Chromosome 10 contains various genes that are significantly involved in tumorigenesis. These genes described herein that play roles in cancer comprise receptor tyrosine kinases (FGFR2), proto-oncogenes (FRAT1, RET), tumor suppressor genes (PTEN, KLF6), and also genes involved in signal transduction (MAPK8), gene fusions (CCDC6, KIF5B, VTI1A), developmental processes (GATA3, NODAL), Epithelial- Mesenchymal transition (ZEB1, VIM) and epigenetic regulation (MLLT10). This chapter provides a compilation of many such genes from Chromosome 10 that are associated with cancer, with vivid delineations of the underlying molecular mechanisms of each gene in its contribution to cancer initiation, progression and metastasis. Genes that are insufficiently investigated but implicated in tumorigenesis have also been described in this chapter.

Over the years, many scientists and doctors have been treating the deadly cancer disease but cannot find a permanent treatment for this disease. Also, sometimes it becomes tough to understand the mechanisms and causes of cancer as it is a very complex disease that involves many biological processes. Due to the redundancy in our biological system, cancer progression becomes very easy, thus making it difficult to cure. To find the root cause of this disease, we should know what genetic alterations are causing cancer progress and who is participating in these alterations, like proteins, signaling pathways, or genes. Cancer is caused due to various reasons; it can be due to genetics but primarily due to carcinogens, causing mutations in the genes, thereby making them an oncogene. The Proto-oncogenes are those genes that usually assist the growth of tumor cells. The alteration, mutation, or increased copy number of a particular gene may turn into a proto-oncogene, which could end up completely activated or turned on. Many Tumor-causing alterations or mutations related to oncogenes are usually acquired and not inherited. These tumor-causing mutations often actuate oncogenes via chromosomal rearrangement or changes in the chromosome, which sequestrates one gene after another, thereby permitting the first gene to prompt the alternative. Search which genes are involved in different cancer types would help scientists proceed with new methods for finding a cure for this disease. This article will depict which genes and their location on which chromosomes, specifically on chromosome 11, are related to different types of cancer.

Chromosome 12 spans about 134 million DNA building blocks and represents approximately 4.5 percent of the total cellular DNA. Gene dysregulation from chromosome 12 has triggered a cell to transform into a cancerous cell. Different types of genes are present in chromosome 12 that cause colon cancer, ovarian cancer, prostate cancer, ampulla of Vater cancer (Vater cancer), etc. These genes play their role in the development and the progression of cancer into metastasis, Epithelial to mesenchymal transition, and overall cancer growth. In this chapter, we have enlisted the genes responsible for cancer and their short introduction.