Fortunately, significant breakthroughs in cancer biology have shown genetics to be essential to understanding the development of cancer and thus create an incumbency upon providers to always obtain a comprehensive family history. Furthermore, advances in genetic testing have helped build predictive models for cancer development and thus can be used to guide early cancer screening tools that form the foundation of effective preventative medicine.
There has been an abundance of germline mutations that have been proven to be essential for cancer formation. These data not only help physicians make appropriate recommendations for early cancer detection but prophylactic therapy. Using this information, risk reduction procedures and behavior modification can all but eliminate the risk for certain cancers. Such is the case for BRCA testing in breast cancer, which usually is initiated when patients have a strong family history of the disease.
BRCA is a gene essential for DNA repair and is mutated in a small group of patients thereby conferring a marked increased risk for developing breast and ovarian cancer. Therefore, BRCA status can dictate the appropriate cancer screening recommendations for patients as well as guide chemo preventative strategies.
Emerging studies in cancer genetics have had an important impact in cancer therapeutics as well. Discoveries have been made in familial cancer syndromes such as Lynch Syndrome. This complex of diseases which includes colon cancer and uterine cancer and is frequently first suspected when patients describes a family history of several family members with one of these disease entities. Genetic testing can then determine the presence of a mutation which predisposes to the development of one of these malignancies, and if a cancer is diagnosed, therapy can be altered so that it will be most effective.
Genetic mutations that have been proven to be causative for cancers are at the forefront of cancer research and have impacted therapeutics in a very positive way. Thus, family history is crucial in helping physicians diagnose and treat cancers effectively. Therefore, patients and physicians should always be cognizant of the importance of obtaining a complete family history.
Chanh Huynh, M.D.
Cancer Care Associates of York
Read "For the Next Generations," an inspiring story about a mother who helped save the lives of her children and grandchildren through genetic testing.
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