Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

Article Abstract:

Individuals with Li-Fraumeni syndrome, a rare genetic disorder, have a high risk of developing several malignant tumors at an unusually early age, with a consequent high death rate. The types of tumors that develop in individuals with Li-Fraumeni syndrome include cancers of the breast, soft tissues, brain, bone, adrenal gland, and blood cells. The genetic defect of Li-Fraumeni syndrome has been located in a gene which encodes a protein known as p53. This gene is known as a tumor suppressor gene. Mutations (genetic changes) in p53 can cause uncontrolled cell growth or cancer. Mutations in p53 were identified in various types of tumors from members of five families with Li-Fraumeni syndrome. The p53 protein was not produced in individuals with the mutated gene. The identification of the gene that causes the tumor development in patients with Li-Fraumeni syndrome will allow the study of the effect of the inactivation of this gene on cancer development. The understanding of the defect will allow identification of members of families with Li-Fraumeni syndrome who carry the defect gene and are at high risk of developing cancer. These individuals can be monitored so that any cancer can be detected early, when it is most easily treated. It is hoped that the study of the p53 gene will allow understanding of genetic susceptibility to cancer in general. (Consumer Summary produced by Reliance Medical Information, Inc.)

Breast cancer, Cancer, Cancer genetics, Tumors, Li-Fraumeni syndrome

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Gene identified for inherited cancer susceptibility

Article Abstract:

Individuals with familial adenomatous polyposis (FAP) have a high risk of developing colon cancer. FAP begins as small polyps early in life and develops into cancer, if the polyps are not removed. FAP is very common and affects one of every 5,000 persons in the United States. Recently, a gene responsible for FAP in a few families with this condition was isolated. With the identification of the gene, individuals in families who are predisposed to FAP and whose families are known to contain the mutation can be screened. This gene is also mutated in other forms of colon cancer that are not inherited. The gene appears to be a tumor suppressor gene; it inhibits tumor development, if active. However, if inactivated by chromosomal alterations, the loss of the gene leads to the development of cancer. A second gene, which has been isolated, also appears to be involved in nonhereditary forms of colon cancer. This gene is also a tumor suppressor gene. The identification of these genes will allow further research to be done on the mechanisms of colon cancer, methods of treatment and, perhaps, prevention of disease. (Consumer Summary produced by Reliance Medical Information, Inc.)

Development and progression, Colorectal cancer, Polyposis, Familial, Familial polyposis

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