Familial Cancer Syndromes Health Article

Definition

Familial cancer syndrome is a genetic condition that causes an increased risk for specific types of cancers. Familial cancer syndromes account for only 5-10% of all cancers.

Description

Most cancer is not inherited. Cancer is common; in 2000, over 1.2 million new cancer cases were diagnosed. Many people have relatives who have had cancer, but most of the time this is due to chance or environmental factors. In a familial cancer syndrome, an inherited genetic mutation causes a person to be at increased risk for cancer and other physical symptoms. There are many different familial cancer syndromes, and each one has a specific set of characteristic cancers and physical symptoms associated with it. For example, BRCA1 and BRCA2 gene mutations are associated with an increased risk for breast and ovarian cancer. Examples of other familial cancer syndromes include Von Hippel-Lindau syndrome, Peutz-Jeghers syndrome, and Li-Fraumeni syndrome.

Features

Below is a list of "clues" in a family tree that make a familial cancer syndrome more suspicious:

• Two or more close relatives with the same type of cancer (on the same side of the family).
• Cancer diagnosed at an earlier age than usual.
• Cancer diagnosed more than once in the same person (more than one primary cancer, not a cancer recurrence).
• Cluster of cancers associated with a known familial cancer syndrome (such as breast and ovarian).
• Many cases of cancer in a family, more than can be accounted for by chance.
• Cancer in a person who also has birth defects.
• Evidence of autosomal dominant inheritance, which is when a gene from one parent overrides that of the other parent. When one parent has a dominant abnormal gene, offspring each have a 50% chance of inheriting that gene.

Diagnosis

The most important step in determining if a family has a familial cancer syndrome is gathering an accurate family history. The family history should include children, brothers and sisters, parents, aunts, uncles, grandparents, nieces, nephews and cousins on both sides of the family. For a person who has had cancer, the type of cancer and age at diagnosis should be listed for each cancer. It may be necessary to obtain medical records to confirm what type of cancer a person had since family members may not always be aware of specific information. Birth defects, unusual skin findings, benign tumors, and special

screening tests (such as colonoscopy to look for colon polyps) should also be noted. When this type of family information is unavailable, it may be possible to look for clues in one or a small number of family members. Many hospitals have a "familial cancer clinic, " which is a team of health professionals with expertise in familial cancer syndromes. Geneticists, genetic counselors, oncologists and social workers assist individuals and families by providing risk assessment, support, screening and prevention recommendations, and genetic testing options (if available).

Inheritance

Some familial cancer syndromes show autosomal dominant inheritance, which means that an affected person has a 50% chance of passing on the genetic mutation to each of his/her children. Other familial cancer syndromes show autosomal recessive inheritance, which means that both parents are usually not affected, but are carriers of a mutation for the condition. In autosomal recessive inheritance, each child born to parents who are carriers has a 25% chance of having the condition. When a person is diagnosed with a familial cancer syndrome, relatives should be examined for signs of the syndrome. Sometimes a person identified as having a familial cancer syndrome is the first person in the family to be affected. That person is able to pass the condition on to his or her children, but the parents and siblings are not affected. Depending on the syndrome, genetics professionals can determine who in the family is at risk.