By Quang La
Because our genes affect our susceptibility to particular types of cancer, genetics is a crucial factor in understanding cancer risk. Genetic mutations are changes in the DNA sequence that can cause aberrant cell division and growth, which in turn can aid in the emergence of cancer. While some mutations are acquired throughout time as a result of environmental influences or lifestyle choices, others are inherited from parents. We can better understand the genetic foundation of cancer and its possible hereditary character thanks to the research of these alterations. Genetically-based cancer disorders, including BRCA1 and BRCA2 mutations provide information on the genetic susceptibility to specific cancers and have been connected to breast and ovarian cancers. Comprehending these syndromes is essential for recognizing persons who are more susceptible and putting in place suitable preventive and screening measures. Genetic information can affect how cancer patients are treated and how well they recover. Using genetic data, precision medicine approaches can customize treatments to a patient's specific genetic profile, increasing treatment effectiveness and minimizing side effects. Additionally, knowledge of the genetic foundation of cancer can help with risk reduction plans, continuous monitoring, and early detection initiatives.
GENETIC MUTATIONS AND CANCER DEVELOPMENT
The emergence of cancer is mostly attributed to genetic alterations. These DNA modifications have the potential to interfere with cells' regular ability to divide and develop, which can ultimately result in tumor growth. For the purpose of identifying, managing, and preventing cancer, it is crucial to comprehend how genetic alterations affect the disease's development.
Types of Genetic Mutations
Cancer can occur as a result of a variety of genetic alterations. Single nucleotide variations known as point mutations result in changed proteins that may accelerate the development of cancer. A gene's reading frame can be broken by insertions and deletions, which can produce proteins that are not functional. The shifting of genetic material between chromosomes, known as chromosomal translocations, can result in aberrant gene fusions that can accelerate the development of cancer.
Oncogenes and Tumor Suppressor Genes
Oncogenes are genes that stimulate cell growth and division; these genes can be impacted by genetic alterations. These genes can promote unchecked cell proliferation and contribute to the development of cancer when they are mutated and become hyperactive. On the other hand, tumor suppressor genes, which typically prevent cell division and proliferation, can also be affected by genetic abnormalities. Mutations that inactivate tumor suppressor genes can eliminate the constraints on cell proliferation, which accelerates the development of cancer.
DNA Repair Genes
DNA repair genes are essential for preserving the genome's integrity because they correct mistakes and damage to DNA sequences. A build-up of genetic alterations can result from mutations in DNA repair genes, raising the risk of cancer development. Genomic instability brought on by malfunctioning DNA repair systems can facilitate the accumulation of new mutations that lead to malignant transformation.
Familial Cancer Syndromes
Some people are genetically predisposed to specific cancers due to genetic alterations they inherited. Certain cancers can strike at a younger age if a person has a family history of the disease, such as Lynch syndrome or BRCA mutations. These hereditary mutations have the potential to dramatically affect a family's vulnerability to cancer, underscoring the significance of genetic testing and counseling for those who may be at risk.
Targeted Therapies and Precision Medicine
Thanks to developments in the field of cancer research, tailored medicines that explicitly target the molecular changes responsible for the growth of cancer have been developed. Healthcare professionals are able to customize therapy options to specifically target the pathways affected by the genetic abnormalities found in a patient's tumor by identifying the mutations themselves. Techniques in precision medicine have the potential to enhance treatment results and lessen the negative effects of conventional cancer treatments.
HEREDITARY CANCER SYNDROMES
A collection of genetic conditions known as hereditary cancer syndromes make people more likely to get cancer at some point in their lives. These disorders are brought on by inherited gene alterations that raise the possibility of getting specific cancers. In the discipline of oncology, knowledge of hereditary cancer syndromes is essential since it can aid in the early detection, prevention, and treatment of cancer in vulnerable individuals. Hereditary cancer syndromes have been linked to a number of genes. Several prominent genes have been linked to these syndromes, such as TP53, which is linked to Li-Fraumeni syndrome, APC, which is linked to familial adenomatous polyposis, MLH1, MSH2, MSH6, and PMS2, which is linked to Lynch syndrome. Certain types of cancer can be considerably more likely to occur if these genes are mutated. When a hereditary cancer condition is inherited autosomally dominantly, a single mutant copy of the gene is enough to raise the risk of cancer. Some people receive the mutant gene from one or both of their parents. Compared to random cases, this pattern of inheritance raises the risk of getting cancer at a younger age.
Types of Hereditary Cancer Syndromes
Lynch Syndrome: Also known as hereditary non-polyposis colorectal cancer, Lynch syndrome increases the risk of developing colorectal cancer as well as other cancers such as endometrial, ovarian, and stomach cancer.
Hereditary Breast and Ovarian Cancer Syndrome: Caused by mutations in the BRCA1 and BRCA2 genes, this syndrome significantly raises the risk of breast, ovarian, and other cancers in affected individuals.
Li-Fraumeni Syndrome: Individuals with Li-Fraumeni syndrome have an increased risk of developing various types of cancer, including sarcomas, breast cancer, brain tumors, and adrenocortical carcinoma.
Genetic testing is commonly used to diagnose hereditary cancer syndromes by finding mutations in the predisposing genes. It may be suggested that those with a family history of cancer or other particular risk factors have genetic counseling and testing done to determine their risk. In order to identify cancer at an early, treatable stage, screening guidelines for people with hereditary cancer syndromes frequently call for more frequent and extensive surveillance. A combination of risk-reducing drugs, preventive surgery, and surveillance may be used to manage hereditary cancer syndromes. People who have been classified as having a high risk of developing cancer may choose to take preventative steps in order to lower their risk of contracting the illness. Furthermore, managing and treating patients with hereditary cancer syndromes requires continuous observation and coordination with medical professionals that specialize in cancer genetics.
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The Genetics of Cancer. (2022, August 17). Cancer.gov. https://www.cancer.gov/about-cancer/causes-prevention/genetics
Genetics and Cancer Risk. (n.d.). American Cancer Society. https://www.cancer.org/cancer/risk-prevention/genetics.html
Family history and inherited cancer genes. (2024, June 12). Cancer Research UK. https://www.cancerresearchuk.org/about-cancer/causes-of-cancer/inherited-cancer-genes-and-increased-cancer-risk/family-history-and-inherited-cancer-genes
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