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Breast Cancer Genetics Provide a Look Inside
Date: 10/19/2012

In the past decade or so, genetic research — especially related to breast cancer — has provided a new window into early intervention and treatment. Much like mammography has allowed us to see into the breast tissue, genetic testing allows us see into the cells.

Researchers have identified two genes (BRCA1 and BRCA2) associated with inherited breast cancer. Gene mutations, studies show, contribute to five and ten percent breast cancer cases and increase risk of developing the disease.

The average woman has a 12 percent risk of developing breast cancer. For a woman with a BRCA mutation, breast cancer risk jumps to 85 percent.

Through genetic testing, those with risk factors like these two genes have the opportunity to get ahead of cancer, or if they’ve already been diagnosed, to understand it for themselves and their families.

Testing is available through programs like the Hereditary Oncology Prevention and Evaluation (HOPE) Program at The Cancer Institute of New Jersey Hamilton. Individuals who qualify for genetic counseling would answer ‘yes’ to one or more of the following questions:

-     Do you have relatives diagnosed with cancer at an age younger than 50?

-     Do you have several relatives with the same type of cancer, or related cancers such as breast and ovarian cancers or colon and endometrial cancers?

-     Are there at least two generations affected with cancer and/or pre-cancerous lesions?

-     Do you have a relative with a rare or hereditary cancer such as pancreatic cancer or ovarian cancer?

-    Is there a personal history of several different types of cancer?

Often, a positive test for the mutated genes will mean frequent breast cancer screenings or medications to lower risk. For others who have had breast or other types of cancer, or have a strong family history, confirmation of a gene mutation may mean more definitive preventative measures, such as mastectomy and reconstruction.

Facing cancer is not easy for anyone, but with genetic counseling programs like the HOPE Program, patients are given a clearer idea of what they are dealing with. It puts their minds at ease and helps them to make important decisions to live their best lives.

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