Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas.
Population-based testing for BRCA1/2 mutations detects a high proportion of carriers not identified by cancer family history-based testing. We sought to determine whether population-based testing is an effective approach to genetic testing in the Bahamas, where 23% of women with breast cancer carry one of seven founder mutations in the BRCA1 or BRCA2 gene. We determined the prevalence of founder BRCA mutations in 1847 Bahamian women without a personal history of breast or ovarian cancer, unselected for age or family history. We found that 2.8% (20/705) of unaffected women with a family history of breast/ovarian cancer and 0.09% (1/1089) of unaffected women without a family history carry a BRCA mutation. A total of 38% of unaffected women with a known mutation in the family were found to carry the familial mutation. We previously suggested that all Bahamian women with breast or ovarian cancer be offered genetic testing. These current data suggest that additionally all unaffected Bahamian women with a family history of breast/ovarian cancer should be offered genetic testing for the founder BRCA mutations.
Bahamas Breast Cancer Initiative Foundation, Nassau, Bahamas.
M
M
Trottier
Department of Hematology and Oncology, Doctors Hospital, Nassau, Bahamas.
J
J
Lunn
Department of Oncology, Princess Margaret Hospital, Nassau, Bahamas.|Department of Obstetrics and Gynecology, Princess Margaret Hospital, Nassau, Bahamas.
R
R
Butler
Department of Oncology, Princess Margaret Hospital, Nassau, Bahamas.
D
D
Curling
Department of Oncology, Princess Margaret Hospital, Nassau, Bahamas.
T
T
Turnquest
Department of Oncology, Princess Margaret Hospital, Nassau, Bahamas.
W
W
Francis
Department of Oncology, Princess Margaret Hospital, Nassau, Bahamas.|Department of Obstetrics and Gynecology, Princess Margaret Hospital, Nassau, Bahamas.
D
D
Halliday
Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.
R
R
Royer
Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.
S
S
Zhang
Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.
S
S
Li
Bahamas Breast Cancer Initiative Foundation, Nassau, Bahamas.
I
I
Thompson
Sylvester Comprehensive Cancer Center, University of Miami, Miami, FL, USA.
T
T
Donenberg
Sylvester Comprehensive Cancer Center, University of Miami, Miami, FL, USA.
J
J
Hurley
Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.|Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
M R
MR
Akbari
Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.|Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
S A
SA
Narod
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001444:Bahamas; D001943:Breast Neoplasms / Q000235:genetics / Q000378:metabolism; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics / Q000378:metabolism; D055815:Young Adult
D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
BRCA1; BRCA2; breast cancer; genetic testing; population genetic screening