FLP/FRT System
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Familial Cancer
Definition
Definition
Fas-associating protein with death domain (FADD) is an intracellular mediator of lymphocyte ! apoptosis. It is an adaptor molecule in apoptosis that recruits caspase 8 or caspase 10 to the activated ! Fas or TNFR-1 receptors. The resulting aggregate is referred to as the death inducing signalling complex (disc), which performs caspase 8 proteolytic activation. Active caspase 8 triggers the subsequent cascade of caspases mediating apoptosis. It is a widely expressed protein of 208 aa and 28 kD, and the gene maps to 11q13.
If a cancer is familiar, it is more common in relatives of an affected individual than in the general population. The level of aggregation is usually measured as a relative risk in affected families as compared to all families. A relative risk of 2.0 implies a two-times higher risk for the offspring of an affected parent. Breast cancer, for example, is two-times more common in daughters whose mothers had breast cancer. The risks can be measured between parents and offspring, between siblings or between any first-degree relatives. Familial aggregation is found in all types of cancer. The highest familial risks are observed for thyroid and testicular cancers, with familial risks between 5and 10. Higher than 3.0 are the risks for melanoma, prostate, endometrial and squamous cell skin cancer. The breast and colon cancer the risk is about 2.0. The reasons for familial cancer are inherited susceptibility. A shared environment and common patterns of behaviour also play a role. Familial aggregation of lung and cervical cancer (relative risk about 2.0) can be partially explained by environmental factors. Inherited cancers are a subgroup of familial cancers where the genetic component is obvious. In many cases the underlying genes have been identified and gene tests are available for some cancer-related genes. Inherited cancers are often monogenic and confer a high risk in those family members who have inherited the defective gene. The frequency of disease is described by penetrance, which is 100% if all carriers of the defective gene contract can-
FAK Definition Focal adhesion kinase (FAK) is a cytoplasmic tyrosine kinase found in focal adhesions of cells. Focal adhesions are structures that anchor the actin cytoskeleton to extracellular matrix. Upon attachment of cells to extracellular matrix proteins, FAK is thought to associate with matrix receptors called integrins and becomes activated. Activation results in autophosphorylation, binding of ! Src family members to FAK and tyrosine phosphorylation of multiple proteins contained within focal adhesions. Such phosphorylation regulates the ability of cells to adhere to substrata and migrate.
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FAMMM
cer. Inherited cancers include cancers at many sites and syndromes at multiple sites.
FAMMM Definition Familial atypical multiple mole-melanoma syndrome (FAMMM); multiple naevi of atypical appearance; ! mole; ! melanoma.
Fanconi Anemia Hans Joenje Free University Medical Center, Amsterdam, The Netherlands h.joenj
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