Cancer is one of the most devastating and common illnesses around. However, there have been years and years of research devoted to better understanding cancer, and this research has revealed important discoveries about why it exists and how to treat it.
What Is Cancer?
Cancer occurs when abnormal, mutated cells multiply uncontrollably. When these abnormal cells grow unchecked, they can invade and damage tissues and create tumors or abnormal masses. Tumors can be benign, meaning not cancerous, or malignant, meaning cancerous. These tumors can travel and form in other parts of the body, further disrupting necessary functions. When cancer travels like this, it is called metastatic cancer.
Cancer can be acquired via somatic mutation or hereditarily when passed down from a parent. Somatic mutation starts with one cell that mutates on its own and is transferred to any new cells that are copied from this cell. Somatic mutations are not passed on genetically. Hereditary mutation is present in the egg or sperm and thus present when the embryo is formed. This means that the mutation is present in every cell. In these cases, genetic cancer testing can help to inform the patients that they are a carrier.
What Cancers Are Hereditary?
Not all cancers are genetic, but family history is always a component for discerning care. Some of the most common hereditary cancers are:
- Cowden Syndrome. This is typified by numerous tumor-like growths and a greater risk for particular cancers, such as breast, uterus, and thyroid cancers. This is linked to mutations in the PTEN gene.
- Lynch Syndrome. This is characterized by an increased risk of colorectal cancer before the age of 50 and a higher risk of endometrial cancer. This is linked to mismatched pairs of genes, typically those that mend damage to DNA, such as MSH2, MSH6, MLHL, and PMS2.
- Hereditary Leukemia. It is estimated that 5-10% of all leukemia is hereditary. Recently, research has indicated at least a dozen genetic disorders linked to leukemia.
- Hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2). Those with mutations in BRCA1 and BRCA2 have an exceedingly increased risk of both breast and ovarian cancer.
- Li-Fraumeni Syndrome. There are several characterizations of Li-Fraumeni Syndrome. Those with this hereditary condition are likely to develop more than one cancer in their lifetimes. This rare syndrome may lead to the development of several different cancers, including leukemia and brain cancers, sarcoma, and breast cancer. Most often, a mutation of the TP53 gene causes this inherited syndrome.
- Gardner’s Syndrome. This is typified by a greatly increased risk of colon cancer, where pre-cancerous polyps in the hundreds to thousands form in the gastrointestinal tract.
- Von Hippel-Lindau Disease. Von Hippel-Lindau Disease affects numerous body systems by the abnormal growth of blood vessels. These growths can occur on the spinal cord, in areas of the brain, in the retina, and other types of tumors can develop elsewhere in the body. This is most almost always associated with a mutation in the VHL gene.
While cancer still poses many questions for doctors, research has paved the way to start unraveling all of the unknowns. Studying the gene mutations associated with cancer will continue to enhance how we understand cancer and how it can be treated.