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Familial Cancer Syndromes
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
| Suppressor genes that, when deleted, predispose families to cancers | |
| Gene | Consequence of gene loss |
| Rb | Retinoblastoma and osteosarcoma |
| TP53 | Li-Fraumeni syndrome |
| Wt1 | Wilms' tumor |
| VHL | von Hippel-Lindau syndrome; renal cell carcinoma |
| NF1 | von Recklinghausen's disease; neurofibromatosis type 1; schwannoma and glioma |
| NF2 | Neurofibromatosis type 2; acoustic neuroma and meningiomas |
| APC | Familial adenomatous polyposis; colorectal tumors |
| MMR | Hereditary nonpolyposis-colorectal cancer |
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).
Neoplastic Syndromes, Hereditary Images
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