Cancer Syndromes and Family History

Dr. Shoba Kankipati                                                                                                                        

The majority of cancers are sporadic, which means that they occur without known family history. However there are specific cancer syndromes that can occur in multiple family members at an early age and can be related to a genetic mutation. Only 8-10% of cancers are genetically predisposed. Both affected and unaffected individuals can benefit from knowing their detailed family history. This includes both paternal and maternal family history.

Specific cancer syndromes that are commonly identified include cancer of the breast, ovary, uterus, colon, and thyroid. For example: A woman has a 11% chance of developing breast cancer, but if she has a strong family history that number may increase her risk up to 80%. Genes called BRCA1 and BRCA2 are implicated in 8-9% of breast cancers. These genes are passed onto a woman or a man from either the mother or father. Which makes knowing both paternal and maternal history very important in cancer risk assessment. These genes are also implicated in ovarian cancer. BRCA2 gene can cause male breast cancer, pancreatic cancer and prostate cancer.

An Ashkenazi Jewish woman has 1 in 40 chance of carrying a BRCA1 or 2 mutation. If a gene is not identified there are other familial syndromes where a specific pattern of increase breast cancer is seen among the women of the family. These women also need to be identified so appropriate risk reduction and surveillance can be offered.

Colon cancer can also have genetic or familial disposition. Syndromes called HNPCC (Hereditary Non-Polypsis Colon Cancer), FAP (Familiail Adenomatosis Polyposis of syndrome) can be identified with detail family history and appropriate testing. Patients with HNPCC are at an increased risk for uterine cancer, ovarian cancer, and cancers in the stomach and small bowel.

Patients and family members are usually reluctant to undergo genetic testing due to concerns about cost and insurance coverage. What they may not know is most health insurance companies will cover most of the costs. Your doctor or genetic counselor might need to write a letter to explain why testing is needed. There are also specific assistance programs that can help in cost coverage.

Another concern is how the results of genetic testing will affect the chance of getting health or life insurance in the future. In the United States, a federal law known as the Genetic Information Nondiscrimination Act prohibits health insurers and employers from using your genetic information. This law is intended to encourage Americans to take advantage of genetic testing if needed.

The important message here is to be aware of your family history, which includes your 1st, 2nd and 3rd generation relatives. If multiple cancers are observed in family members it is important to bring it to your physicians attention so they can guide you in regards to genetic testing for you and your family members. As new information is added to your family history remember to keep updating your primary care doctor about it. As one day you may not qualify for genetic testing and the next day you may.

Dr. Kankipati is a board certified Medical Oncologist and Hematologist with Epic Care, a group of experts in the diagnosis and comprehensive treatment of cancer and blood disorders.