What is an example of genetic alterations in humans?
Genetic alterations in humans refer to changes in the DNA sequence that can lead to various health conditions, including diseases and disorders. These alterations can occur due to various factors such as mutations, deletions, insertions, and rearrangements of genetic material. In this article, we will explore an example of genetic alterations in humans and its implications on health and disease.
One of the most well-known examples of genetic alterations in humans is the BRCA1 and BRCA2 mutations. These mutations are associated with an increased risk of developing breast and ovarian cancer. The BRCA1 and BRCA2 genes are tumor suppressor genes that help regulate cell growth and division. When these genes are altered, they can no longer perform their function effectively, leading to uncontrolled cell growth and an increased risk of cancer.
The BRCA1 and BRCA2 mutations are inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is needed to increase the risk of cancer. Individuals with these mutations have a significantly higher risk of developing breast cancer, with estimates ranging from 45% to 87% by age 70 for BRCA1 mutations and 39% to 63% for BRCA2 mutations. Similarly, the risk of ovarian cancer is also increased, with estimates ranging from 11% to 39% for BRCA1 mutations and 11% to 17% for BRCA2 mutations.
The identification of BRCA1 and BRCA2 mutations has significant implications for individuals and their families. Genetic counseling and testing can help identify individuals who carry these mutations, allowing them to take proactive steps to reduce their risk of cancer. These steps may include increased surveillance, such as regular mammograms and breast MRI, as well as preventive measures, such as prophylactic mastectomy and oophorectomy.
In conclusion, the BRCA1 and BRCA2 mutations are a prime example of genetic alterations in humans that can lead to serious health conditions. Understanding the genetic basis of these mutations can help individuals and their families make informed decisions about their health and take appropriate preventive measures.
