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Genetic Mutation Points to High Risk of Developing Breast Cancer

Posted by floriza in Genetic Counseling

A study conducted in the Bahamas by the University of Miami School of Medicine over a period of many years has pinpointed a genetic mutation that makes a patient 70 to 80 percent more likely to develop breast cancer in their lifetime. Women with the gene mutation were also found to have a 30 to 50 percent risk of developing ovarian cancer.

Relatives of 214 women who had breast cancer were tested, and 23 percent of them had the mutation. The Bahamas were chosen because the area has an unusually high incidence of breast cancer.

While only 12 percent of women in the United States develop breast cancer before the age of 44, 34 percent of women in the Bahamas develop the disease before turning 44. In fact, women in the Bahamas are most likely to develop breast cancer around the age of 42. This compares with the average age of 62 in the United States.

The Bahamian women are also more likely to have breast cancer in late stages by the time of their diagnoses, and breast cancer is one of the leading causes of death in Bahamian women. The mutation was highest in the younger women and in women who had a close relative with breast cancer or ovarian cancer.

Helping Women in the Bahamas

As a result of the study, a genetic counseling center may be set up in the Bahamas to carry out the tests. The trick is making it cost-effective.

The American Cancer Society recommends that women begin having mammograms at age 40. Obviously, this is too late for the women of the Bahamas since 28 percent of breast cancer diagnoses are in women under the age of 40.

Similar studies are beginning in other high risk areas, including the Republic of Trinidad and Tobago, the island of Dominica, Barbados, and the Cayman Islands. It is uncertain what, if any, effect this finding will have on breast cancer studies within the United States.

Genetics and Breast Cancer

Worldwide, only five to ten percent of breast cancer diagnoses are believed to be genetic. Two breast cancer genes – BRCA1 and BRCA2 – have been identified, and everyone has them. These genes maintain healthy breast cell growth unless there is an abnormality such as the mutation found in the Bahamas.

Gene mutations give the cells faulty DNA instructions, causing them to grow in the wrong way and create damaged copies as the cells replicate. In this study, six mutations of the BRCA1 gene was found in the Bahamas.

Genetic counseling centers in New Jersey and other parts of the world can, in many cases, help determine your likelihood of developing certain diseases that are known to often be hereditary.


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