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Peutz-Jeghers syndrome
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Peutz-Jeghers syndromeWhat is Peutz-Jeghers syndrome?Peutz-Jeghers syndrome is an inherited disorder that greatly increases a person's risk of developing certain types of cancer. People with Peutz-Jeghers syndrome often have small, dark-colored spots on the lips, around and inside the mouth, and near the eyes and nostrils. These spots appear during childhood and often fade as the person gets older. In addition, many people develop multiple noncancerous growths called polyps in the intestines and stomach. Polyps can cause medical problems such as bowel obstruction, bleeding, and pain. People with Peutz-Jeghers syndrome have a very high risk of developing cancer during their lifetimes. Cancers of the breast, colon, pancreas, stomach, and ovary are among the most common. How common is Peutz-Jeghers syndrome?The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 280,000 births. What genes are related to Peutz-Jeghers syndrome?Mutations in the STK11 gene cause Peutz-Jeghers syndrome. STK11 is a tumor suppressor gene, which means that it helps regulate the cycle of cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the gene prevent the STK11 protein from restraining cell growth, which can lead to the formation of tumors. Some people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. The cause of the disorder in these cases is unknown. How do people inherit Peutz-Jeghers syndrome?Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. About half of all cases are inherited from a parent who has the condition. The other cases occur in people with no history of the disorder in their families. Many of these sporadic cases appear to be caused by new gene mutations in the STK11 gene. Where can I find information about Peutz-Jeghers syndrome?You may find the following resources about Peutz-Jeghers syndrome helpful.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for Peutz-Jeghers syndrome?
See How are genetic conditions and genes named? in the Handbook. What if I still have specific questions about Peutz-Jeghers syndrome?
Where can I find general information about genetic conditions?The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful. What glossary definitions help with understanding Peutz-Jeghers syndrome?autosomal ; autosomal dominant ; bowel obstruction ; cancer ; cell division ; colon ; cutaneous ; gene ; intestine ; mutation ; new gene mutation ; pigmentation ; polyp ; polyposis ; protein ; sporadic ; tumor ; tumor suppressor gene You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook. |