Hereditary/Germline Mutations can Cause Cancer
Germline mutations are changes to an organism’s DNA that are passed down from parent to offspring. These mutations can be beneficial, neutral, or harmful.
Beneficial germline mutations may confer a competitive advantage and help an organism survive and reproduce in its environment. For example, a mutation that confers resistance to a deadly disease may allow an individual to survive and pass on the mutation to their offspring.
Neutral germline mutations do not have any noticeable effect on an organism’s fitness. Many of these mutations occur in regions of the genome that do not code for proteins, or they may have such minor effects that they are not detectable.
Harmful germline mutations can decrease an organism’s fitness and reduce its chances of survival and reproduction. These mutations can cause developmental defects, diseases, or death. Some harmful mutations may only have a small effect on fitness, while others can be lethal like leading to development of Cancer
Role Of Germline Mutations In Cancer
Germline mutations are responsible for a significant proportion of all cancer cases. These mutations can be passed down from generation to generation, and they can have a profound impact on the development and progression of cancer. Germline mutations can be acquired through DNA replication errors, exposure to mutagens, or inherited from a parent.
Germline mutations can have a significant impact on cancer risk. For example, mutations in the BRCA1 and BRCA2 genes are associated with an increased risk of breast and ovarian cancer. People with these mutations have a much higher lifetime risk of developing these diseases than the general population.
There are many other genes that have been linked to increased cancer risk. Some of these genes are associated with specific types of cancer, while others increase the risk of multiple types of cancer. In some cases, germline mutations can also lead to a decrease in cancer risk. For example, mutations in the APC gene are associated with a reduced risk of colorectal cancer. Germline mutations can also affect the severity of disease. In some cases, they can lead to more aggressive forms of cancer. For example, mutations in the BRCA1 gene are associated with a more aggressive form of breast cancer.
Germline mutations can also affect treatment options and outcomes. People with certain germline mutations may be more likely to respond to certain treatments or have a better prognosis. For example, people with BRCA1 and BRCA2 mutations may be more likely to respond to chemotherapy.
Role Of Somatic Mutations In Cancer
Somatic mutations are changes in the DNA of a tissue or organ that occur during a person’s lifetime. These changes are not passed down to future generations. Somatic mutations can be caused by environmental factors, such as ultraviolet (UV) radiation from the sun, or by errors that occur when cells divide. Some somatic mutations have no effect on health. However, others can lead to cancer or other diseases. Cancer occurs when somatic mutations cause cells to grow and divide uncontrollably.
There are several ways that somatic mutations can lead to cancer. One way is by causing cells to divide uncontrollably. Mutations in certain genes, such as the tumor suppressor gene p53, can cause this to happen. Normally, p53 helps to keep cell growth in check. But when it is mutated, it loses this ability, leading to uncontrolled cell division.
Another way that somatic mutations can lead to cancer is by affecting the way cells die. Normally, when cells become damaged or no longer needed, they undergo a process called apoptosis, or programmed cell death. However, mutations can cause cells to resist apoptosis. This allows damaged or unnecessary cells to survive and continue dividing, which can lead to cancer.
Next Generation Sequencing - From Mutation To Treatment
Researchers are using these NGS genetic testing to identify these mutations and develop targeted therapies that can better kill cancer cells. This approach, known as precision medicine, is already having a major impact on the treatment of cancer and is helping patients live longer, healthier lives.
There are many different types of mutations that can occur in cancer cells. Some of these mutations may make the cells more aggressive, while others may make them less responsive to treatment. However, by identifying these mutations, doctors can tailor treatments to each individual patient’s needs.
For example, patients with a specific type of lung cancer known as EGFR-positive lung cancer often have a mutation in the EGFR gene. This mutation makes the cancer cells more likely to grow and spread. However, there are drugs like Erlotinib that target this mutation and can help to shrink the tumor and prolong a patient’s life.