Genetic tests confirm high-risk breast cancer group

Mon, Oct 17th 2011, 09:29 AM

The results are in from a crucial phase of a years-long, groundbreaking breast cancer study involving Bahamian women: Twenty-five percent of their relatives who participated in genetic testing have been found to have a genetic mutation.
"That basically means that they're at a very high risk of developing breast cancer," said Dr. Judith Hurley, a breast cancer specialist at the University of Miami School of Medicine.
"If you have a genetic mutation, if you have one of these mutations in your breast cancer gene, you have a lifetime risk of somewhere between 70 and 80 percent of developing breast cancer and a somewhere between 30 and 50 percent chance of developing ovarian cancer.
"So I think for these ladies, it's going to change the way they look at things.  I think it's going to change the way they do things."
Dr. Hurley said some of them may opt for preventative surgery, and others will be much more careful about their followups.
"They will likely pay a lot more attention to their breasts because they are at such high risk," she said.
Through other phases of the study, researchers say it quickly became obvious that abnormal genes were causing Bahamian women to develop breast cancer at much younger ages than their American counterparts.
According to health statistics, 34 percent of Bahamian women diagnosed with breast cancer are 44 or younger. This compares to 12 percent of American women under 44.
What researchers also find startling is that 44.6 percent of those Bahamian women diagnosed have late stage breast cancer compared to 12 percent of American women.
The average age of women with breast cancer in The Bahamas is 42 while the average age in the United States is 62.
A team of local oncologists is also involved in the research.
Dr. Hurley said Dr. John Lunn is trying to acquire the technology so that genetic tests can be carried out cheaply in The Bahamas.
Additionally, she revealed that The Bahamas is going to have a full time genetic counselor for at least one year.
"During the time we hope that a Bahamian will be trained as a genetic counselor so that there is a full time permanent genetic counselor in The Bahamas," Dr. Hurley told The Nassau Guardian.
"In addition, we have opened the same study in Trinidad and Tobago, Dominica, Barbados and the Caymans."
Dr. Hurley wished not to reveal the number of family members of women with breast cancer who participated in the latest phase of the research, but she stressed the benefits of having a genetic counselor based in The Bahamas.
"I'm really excited about this," she said.
"I think this is just a great opportunity for Bahamian women to have access to a full time genetic counselor."
Researchers hope that as a result of the study, genetic counseling in The Bahamas will be conducted cheaply over the long term.
"If we can get it cheap, and if we can get it done in The Bahamas, then it becomes cost effective to go and get the test done," Dr. Hurley said.
"If your test is positive, regardless if you have a family member with cancer or not, then you can either take preventative measures or you can be very careful about your follow ups.
"If your test is negative, then you can go into the low risk group and you don't have to have close followups.  I think it's going to be a slow change, but things are going to change."
Bahamian health officials currently use the American Cancer Society's screening recommendations, which call for screening at age 40.
"But in The Bahamas 28 percent of the women who have breast cancer are under the age of 40, so you're missing more than 25 percent of the population, who develop breast cancer," Dr. Hurley said previously.
"So the screening guidelines that are currently in place are inadequate and we have to come up with new ones, that are specifically tailored to the population of The Bahamas."
Breast cancer is the sixth leading cause of death of Bahamian women, according to health officials.
The latest findings of the ongoing research come as October is being observed as Breast Cancer Awareness Month.

 
SIGNIFICANT FINDINGS

The following was taken from researchers' report produced on their study:
The Bahamas is a group of islands in the Caribbean with a high incidence of early onset breast cancer.
In isolated populations, the identification of founder mutations in cancer predisposing genes may facilitate genetic testing and counseling.
To date, six distinct BRCA1 mutations have been found in patients from cancer families from The Bahamas.
The frequencies of these mutant alleles have not been measured in a large series of unselected breast cancer patients from The Bahamas.
We studied 214 Bahamian women with invasive breast cancer, unselected for age or family history of cancer.
All patients were screened for six mutations in the BRCA1 gene that have previously been reported in cancer patients from The Bahamas.
A mutation was identified in 49 of the 214 breast cancer patients (23 percent).
The mutation frequency was particularly high in women diagnosed before age 50 (33 percent) in women with a first-degree relative with breast or ovarian cancer (41 percent) and in women with bilateral breast cancer (58 percent).
Approximately 23 percent of unselected cases of breast cancer in the Bahamian population are attributable to a founder mutation in the BRCA1 gene -- this is the highest reported mutation prevalence for any country studied to date.
Genetic testing for these mutations is advisable for all women diagnosed with breast cancer in The Bahamas.
 
THE TEAM

Talia Donenberg

Judith Hurley
Sylvester Comprehensive Cancer Center, University of Miami

John Lunn

Doctors Hospital, Nassau, Bahamas

DuVaughn Curling

Theodore Turnquest

Princess Margaret Hospital, Nassau, Bahamas

Elisa Krill-Jackson

Mount Sinai Comprehensive Cancer Center, Miami

Robert Royer
Steven A. Narod
Womens College Research Institute, Toronto, Canada

 

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