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Genomics and Hereditary Cancer Risk Assessment

What Is Genomics?
Our genes influence almost everything about us, including our health. Our genetic blueprint determines not only our hair color and height, but also our susceptibility to infectious diseases such as tuberculosis and HIV, and chronic diseases such as diabetes, heart disease, and cancer.

While the field of genetics focuses on the study of single genes, genomics is "big picture" science-- the study of all the genes in an organism. Genomics helps us to understand the highly complex interactions of genes with each other and with the environment.

Genetic Testing is Available
In terms of diagnostics, we are already in position with some heritable conditions where it’s possible to determine who is at risk even before the disease has appeared, perhaps most dramatically in circumstances like the BRCA1 and BRCA2 genes. Women who carry mutations in one of those genes have a very high risk for breast and ovarian cancer, and there are now strong recommendations that women in such families ought to have the opportunity to undergo genetic testing in order to make decisions about surveillance or even surgical approaches to that high-risk situation.

Similarly, people in families with a very strong history of colon cancer can now take advantage of the kind of diagnostic testing that may identify individuals who have a risk as high as 60% for colon cancer and who can avoid a bad outcome by beginning colonoscopy at a very early age, and doing it every year instead of every 5 or 10 years. So those tests are with us now; they’re not for some distant future time.

Breast/Ovarian Cancer

Breast and ovarian cancer are topics of concern for all women - regardless of family history. Each year, close to 200,000 cases of breast cancer and about 25,000 cases of ovarian cancer are diagnosed. While the majority of breast and ovarian cancers are not caused by inherited risk factors, research has shown that about 10 percent of these cases are hereditary.

Here are some of the risk-reducing steps you and your doctor can take if your genetic test indicates a greater-than-average risk of developing an inherited cancer:

Colorectal/Endometrial Cancer
As many as 150,000 cases of colorectal (colon and/or rectal) cancer are diagnosed each year in both men and women of all ages. Five to ten percent of these cases are caused by inherited gene mutations that increase a person's lifetime risk of colorectal cancer. Hereditary nonpolyposis colorectal cancer and the adenomatous polyposis syndromes are the most common inherited syndromes that increase the risk for colorectal cancer and, in some cases, for other cancers. The adenomatous polyposis syndromes include familial adenomatous polyposis, attenuated FAP, and MYH -associated polyposis.

Here are some of the preventive steps you and your doctor can take if your genetic test indicates a risk of developing an inherited cancer.

Melanoma is a form of skin cancer that is highly curable when caught early. While melanoma only accounts for a small portion of skin cancer cases, it is the cause of most skin cancer-related deaths. The number of new melanomas diagnosed in the United States is rising rapidly, with over 59,000 new cases diagnosed each year.:

Here are some of the preventive steps you and your doctor can take if your genetic test indicates a greater-than-average risk of developing an
inherited cancer.

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