How PJS is Inherited?

If an individual with a family history of PJS is affected, the children and siblings have a 50 per cent risk. The risk is the same for each pregnancy. If other family members have PJS, you may be diagnosed earlier as a result of bowel examination or freckling, before any bowel symptoms develop.

If no one else in the family has PJS except you, it may be that a spontaneous genetic change is responsible. You were probably diagnosed because you came to the doctor with cramping, with or without a blockage in the intestine, anemia, or a cancer.

If you are affected, your children will have the same 50 per cent risk of having inherited the PJS gene. PJS is a genetic condition which means that it can be passed from generation to generation within a family. PJS is passed through a family by way of a gene. Genes decide how our cells develop and how they work. When cells divide, the genes copy themselves. When copying takes place perfectly, genetic information is passed from one generation to the next without abnormalities. However, if even a tiny change occurs, a gene may carry the wrong information. Genetic research has recently identified a PJS gene on chrosomosome 19.

Scientists can now confirm a definite diagnosis of PJS in some affected families with PJS. Once the responsible genetic change is found in someone who has PJS, relatives who are at risk can have a gene test. Genetic counselling and testing is offered on a research basis for PJS. International research on PJS will ensure the expansion of knowledge about the genetic basis of this disease which, in turn, may lead to improved treatment.