Cancer Genetics

It’s been a long few years for her family. In August 2016, the family, including older son Harrison, had gone to a fair and Alex, then 11 years old, hit his knee.
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“Our main focus is to evaluate patients who may have inherited forms of cancer, where it would make a difference in the management of their disease or the management of their family’s risk,” says Joseph F. Maher, MD.
As a result of having VHL, Sheana has had many surgeries. At age 12 she had a hemangioblastoma removed from her brain. At age 15, a tumor was removed from her spine. At age 17, another from her brain. She also has had tumors behind her eyes.
It is relatively uncommon for younger women — those who have not yet started menopause — to be diagnosed with breast cancer, says Ellis Levine, MD, Chief of Breast Medicine at Roswell Park Comprehensive Cancer Center.
BRCA1 and BRCA2 are tumor suppressor genes, meaning when they function normally their job is to keep tumors from forming. Some people however, have an altered or mutated copy of the gene and certain mutations are associated with an increased risk for several cancer types, including breast, ovarian, prostate, pancreatic, melanoma, and in some families, colorectal.
Our understanding of the genetic impact on cancer risk continues to evolve rapidly, and scientific advances in the field have led to significant changes in genetic screening for cancer risk in terms of what we test for, whom we test and how we test.

Parents do everything they can to keep their children safe and secure. So when an unexpected cancer diagnosis hits, it’s scary to think that you might have passed your cancer risk along to your children. For almost 700,000 Americans living with a brain tumor, there’s one question: “Is it hereditary?”

Unfortunately, most pancreatic cancer cases are not found until the disease has reached stage IV.

By studying similarities in high-risk individuals and tracing connections between their blood relatives, researchers are helping solve the mysteries of a disease that is usually diagnosed in the late stages, when it is harder to treat.

Epigenetics describes how normal genes that control the body’s functions can be switched on or off by different exposures and experiences, from before birth through adulthood. These changes could potentially affect the health of our offspring for generations.

A genetic consultation is often recommended for people who are concerned about their risk for cancer due to a personal or family history of cancer.