What are Inherited Genetic Mutations?
Inherited genetic mutations are changes in genes that are passed down from one generation to the next. These mutations are present in the egg or sperm cells of parents and are therefore present in every cell of the body of the offspring. Unlike
somatic mutations, which occur in individual cells during a person's lifetime, inherited mutations are present from birth.
How Do Inherited Genetic Mutations Contribute to Cancer?
Certain inherited genetic mutations can significantly increase the risk of developing cancer. These mutations can affect genes responsible for cell division, DNA repair, and other critical processes. For instance, mutations in the
BRCA1 and
BRCA2 genes are well-known for increasing the risk of breast and ovarian cancers. Similarly, mutations in the
APC gene can lead to familial adenomatous polyposis, a condition that increases the risk of colorectal cancer.
1.
BRCA1 and
BRCA2: Linked to breast and ovarian cancers.
2.
TP53: Associated with Li-Fraumeni syndrome, which increases the risk of various cancers.
3.
MLH1,
MSH2,
MSH6, and
PMS2: Related to Lynch syndrome, which increases the risk of colorectal cancer.
4.
APC: Causes familial adenomatous polyposis and increases colorectal cancer risk.
5.
PTEN: Associated with Cowden syndrome, which increases the risk of breast, thyroid, and endometrial cancers.
How Are These Mutations Detected?
Inherited genetic mutations can be detected through
genetic testing. This usually involves a blood sample or a cheek swab, which is then analyzed for specific mutations. Genetic counseling is often recommended both before and after testing to help individuals understand their risk and the implications of test results.
1. Increased Cancer Surveillance: Individuals may undergo more frequent screening tests, such as mammograms, MRIs, or colonoscopies, to detect cancer early.
2. Preventive Measures: Some may opt for preventive surgeries, like mastectomy or oophorectomy, to reduce cancer risk.
3. Family Planning: Knowing one's genetic risk can influence family planning decisions, including the consideration of preimplantation genetic diagnosis (PGD) during in vitro fertilization (IVF).
4. Lifestyle Modifications: Individuals may make lifestyle changes, such as diet and exercise, to mitigate their cancer risk.
Can These Mutations Be Treated or Corrected?
Currently, there is no way to correct inherited genetic mutations. However, research is ongoing in the field of
gene therapy. For now, the focus is on managing cancer risk through surveillance, preventive measures, and targeted therapies. For example, individuals with BRCA mutations may benefit from
PARP inhibitors, a class of drugs that target cancer cells with specific genetic abnormalities.
What Are the Psychological and Social Implications?
Discovering an inherited genetic mutation can be emotionally challenging. It may cause anxiety, stress, or a sense of inevitability about developing cancer. Genetic counseling can provide support and help individuals navigate these complex emotions. Additionally, sharing genetic information with family members can be difficult but is crucial for informing them about their potential risks.
Conclusion
Inherited genetic mutations play a significant role in the development of various cancers. Understanding these mutations, their detection, and the implications of knowing one's genetic risk can help individuals make informed decisions about their health. While there is no way to correct these mutations, increased surveillance and preventive measures can significantly mitigate the associated risks.
