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 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%). The mutation frequency was particularly high in women diagnosed before age 50 (33%) in women with a first-degree relative with breast or ovarian cancer (41%) and in women with bilateral breast cancer (58%). Approximately 23% 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.

IMPORTANCE Rates of breast and ovarian cancer are high in the Caribbean; however, to date, few published data quantify the prevalence of inherited cancer in the Caribbean population. OBJECTIVE To determine whether deleterious variants in genes that characterize the hereditary breast and ovarian cancer syndrome are associated with the development of breast and ovarian cancer in the English-and Creole-speaking Caribbean populations.

Background: The Bahamas is an island nation shown to have a high incidence of early onset breast cancer. In addition, recent research has revealed that the Bahamian population has a high prevalence of a founder mutation to the BRCA1 gene. Despite the population differences between the Bahamas and the United States, the screening guidelines for breast cancer in the Bahamas reflect those of the United States. This study provides data that suggests that the current breast cancer screening guidelines in the Bahamas do not capture cases in the age groups most at risk and are in need of revision. Methods: We performed a retrospective review of all cases submitted to the Princess Margaret Hospital cancer registry from 1998-2012. We divided the patients into 10 year age cohorts and determined the frequency of breast cancer in each group. For comparison, data for the United States was obtained using the Surveillance, Epidemiology, and End Results (SEER) 18 registries, including all cases of breast cancer from 1998-2012 further stratified into age groups and ethnicity. Results: The average age of diagnosis of breast cancer in the Bahamas from 1998-2012 was 54 years, compared to an average age of diagnosis in the United States overall population of 61 years and among the black American ethnicity, 58 years (2008-2012 data). The age group with the highest percentage of incidence in the Bahamas is the 40-49 age group consisting of 27% of those diagnosed from 1998-2012. During the same time period, the age group with the highest incidence of breast cancer in the United States was the 50-59 age group in the overall population (24.8%), as well as in the black population (26.7%). By beginning screening at age 40, according to screening guidelines during the study period, the United States was able to capture 95.3% of breast cancer cases in the overall population and 92.8% of breast cancer cases in the black population. Using similar guidelines, the Bahamas captured only 83.6% of breast cancer cases. For comparison, if screening began at age 30 in the Bahamas during the study period, 97% of breast cancer cases would have been captured. Conclusions: The data in this study demonstrates significant differences in the incidence of breast cancer between age group cohorts in the population of the Bahamas compared to the population of the United States. Furthermore, it suggests that the screening guidelines in place in the Bahamas may be insufficient at capturing an adequate percentage of the population at risk for breast cancer. A significant increase in capture of those with breast cancer in the Bahamas may be achieved by reducing the age to begin screening below the age of 40. Citation Format: Deleveaux S, Curling D, Francis W. Breast cancer in the Bahamas: Revisiting the adequacy of national screening guidelines [abstract]. In: Proceedings of the 2016 San Antonio Breast Cancer Symposium; 2016 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2017;77(4 Suppl):Abstract nr P5-08-16.

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The Caribbean population is predominantly of African descent with an admixture of Indigenous, East Asian, Indian subcontinent, Western European and Middle Eastern descendants. This region has one of the highest burdens of cancer in the world, and breast cancer is the leading cause of cancer death in Caribbean women. We established a cohort of 1,019 people diagnosed with breast and ovarian cancer across 7 Caribbean countries (Cayman Islands, Bahamas, Barbados, Dominica, Haiti, Jamaica, Trinidad and Tobago)—Caribbean Women's Cancer Study (CWCS). The primary objective was to identify deleterious mutations in the breast cancer genes in a cohort of Caribbean people with breast and/or ovarian cancer. Methods: The study was conducted between 2004-2015 in the Bahamas, Cayman Islands, Jamaica, Barbados, Dominica, Trinidad and Tobago and Haiti. Following IRB approval, 1,019 women and men diagnosed with breast or ovarian cancer were identified through outpatient oncology clinicals, treating physicians and cancer societies on the islands. In addition, participants were recruited through radio, newspaper and TV advertisements. Inclusion criteria were pathologic diagnosis of breast (male or female) and/or ovarian cancer, at least 1 grandparent born in one of the participating countries and ability to provide saliva. NGS and MPLA (BRCA1/2) were performed on a panel of 31 genes. The following epidemiologic and anthropometric measures were collected: family pedigree; age of menarche, menopause, and first pregnancy; number of pregnancies; number of siblings; year of birth; age at cancer diagnosis; body mass index (BMI) at time of diagnosis; stage of cancer; mode of diagnosis; and tumor characteristics. Results: The mean age of the mutation carriers was 45 (20-70) years and mean BMI was 29.0. 70% of the mutation carriers self-identified as Afro-Caribbean. 75% identified their cancer by palpation. The Bahamas has the highest incidence of hereditary breast cancer in the world due to founder mutations in the BRCA1 and BRCA2 genes (23% of unselected breast cancer). In Trinidad and Tobago 12% of women with breast cancer had a mutation in BRCA1/2, PALB2, RAD51C or CHEK2. Jamaica had 4.9% incidence of BRCA1/2, STK11, NBN and PALB2 mutations and 6.9% (5/94) of Haitian women have deleterious mutations in BRCA1/2, PALB2. In Barbados 17.9% (16/89) have deleterious mutations in BRCA1/2, PALB2. In Dominica (4/57) 8.8% of the cohort had BRCA2 or PALB2 deleterious mutations and 6.3% (4/63) in the Cayman Islands had a deleterious mutation in ATM, BRCA1/2. 64% of mutations carriers had a frameshift, nonsense, or large deletion in BRCA1, 23% in BRCA2 and 9% in PALB2. There were 29 unique mutations in BRCA1 in 92 individuals (64%) and 23 unique mutations in BRCA2 with recurring (founder) mutations predominantly in the Bahamas. 11 distinct mutations in PALB2 were seen in 13 individuals across 5 countries. Conclusion: This initial Caribbean population-based study demonstrates that genetic causes of breast cancer are common in the Caribbean population. Citation Format: Sophia H.L. George, Talia Donenberg, Cheryl Alexis, Vincent DeGennaro, Hedda Dyer, Sook Yin, Priscila Barreto-Coelho, Simonnette Thompson, Raleigh Butler, Gillian Wharfe, Jameel Ali, Theodore Turnquest, DuVaughn Curling, Mohammad Akbari, Steven Narod, Judith Hurley. The spectrum of germline mutation carriers in a cohort of breast and ovarian cancer patients in the Caribbean [abstract]. In: Proceedings of the Eleventh AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2018 Nov 2-5; New Orleans, LA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(6 Suppl):Abstract nr C060.

e13632 Background: Breast cancer is the leading cause of cancer in high-income (HIC) and low to middle-income countries (LMIC); and is the most common diagnosed cancer among women. Factors affecting breast cancer incidence include obesity, parity, age of menarche, age of first pregnancy and mutations in BRCA1/2 and genes involved in the homologous recombination repair pathway. These factors differ between HICs and LMICs including countries in the Caribbean. The majority of women from the Caribbean are of African ancestry and Black women have increased morbidity and mortality rates of breast cancer. Our goal is to study how reproductive patterns affect breast cancer age at presentation in Caribbean-born women. Methods: We conducted a prospective observational study recruiting patients from The Bahamas, Barbados, Cayman Islands, Dominica, Haiti, Jamaica and Trinidad and Tobago. Women were considered eligible if they were diagnosed with primary breast cancer at any age. The cohort was divided into four groups based on the year of birth ( < 1950, 1950 – 1959, 1960 – 1969, > 1970). The following data was collected: age at diagnosis of breast cancer, family history of cancer, age of first pregnancy, number of pregnancies, number of children, number of siblings, BMI at time of enrollment, age of menarche and menopause. Data analysis was conducted using the Chi-square test, ANOVA and logistic regression model. Results: A total of 1015 were enrolled and 995 met inclusion criteria. When comparing women born < 1950 to those > 1970, there was a statistically significant difference between means for the variables: Age at Breast cancer diagnosis (60.7 vs 35, p <.0001); number of siblings (4.5 vs 6.6, p <.0001); age of menarche (13.4 vs 12.3, p <.0001); number of pregnancies (4 vs 2.09); number of children (3.5 vs 1.6, p <.0001) and age of menopause at diagnosis (47.4 vs 37.5, p <.0001). When comparing women who were never pregnant to those who experienced pregnancy, mean age at breast cancer diagnosis was significantly reduced from 47.3 to 41.5 (p < 0.0001). Women who had n = 3 or more children were diagnosed older (mean of 49.9 years), compared to women with 2 or less children, (45.1 years, p < 0.0001). In multivariate analysis a higher likelihood for a positive mutation between year of birth 1960-1969 (aOR 2.19 [1.24 – 3.88], p = 0.007) and > 1970 (aOR 2.02 [1.06 – 3.88], p = 0.034) compared to < 1950. Conclusions: Our data shows that the Caribbean has undergone a rapid change in reproductive patterns in one generation. These changes provide an insight of risk factor patterns for breast cancer incidence which are associated with younger age of onset.

Introduction: There are many factors that affect breast and ovarian cancer incidence. Genetics, obesity, parity, age at menarche, age at first pregnancy, and family size are all determinants of breast and ovarian cancer risk and factors that differ between well-resourced countries and low- and middle-income countries (LMIC). These factors can be subject to rapid change. In addition, there are risks that are associated with the development of breast and ovarian cancer that are associated with race and ethnic group that are less well understood. The Caribbean is home to more than 20 million women, the majority of whom are of African ancestry. The demographics of the Caribbean basin in terms of finance, diet, and exposures are rapidly changing and these factors will, no doubt, be reflected in the rates of breast and ovarian cancer diagnosis. In this article, we propose to examine the changing factors that affect the development of breast and ovarian cancer in women with breast and ovarian cancer of Afro-Caribbean origin. Methods: This prospective study was approved by the University of Miami IRB and the Ministry of Health in the Bahamas. We recruited breast and ovarian cancer patients from public and private clinics in the Bahamas between September 2008 and January 2010. Women were eligible if they had been diagnosed with breast or ovarian cancer, and if at least one parent was born in the Bahamas. Data were analyzed from 250 women from 229 families. The cohort was divided into four groups depending on the year that they were born: &lt;1950, 1950-1959, 1960-1969, or &gt;1970. Data analysis was conducted using the c2 test or ANOVA with adjustment for clustered data. Results: Data analysis was conducted on the 250 patients, and the groups were broken down as follows: fifty-six patients were born before 1950, ninety-one were born between 1950-1959, seventy-one between 1960-1969, and thirty-two in or after 1970. The mean age of diagnosis of their first cancer decreased from 57 years (born before 1950) to 31 years (born in or after 1970, p&lt;0.0001). Patients born before 1950 had more siblings (p=0.045), more pregnancies (p&lt;0.0001), and more children (p&lt;0.0001). They had their menarche at an older age (13.8 years vs to 12.7 years, p=0.028) and their first pregnancy at a younger age (21.6 years vs 24.8 years, p=0.021) when compared to the patients born in or after 1970. There was no difference in their body mass index or family history of breast and ovarian cancer. 3.6% of the women were diagnosed with ovarian cancer. At the time of enrollment to study, 21% of the cohort had a TAH-BSO. 59.4% of women born in the 1950s underwent a TAH-BSO. Multivariate analysis of women diagnosed with breast or ovarian cancer, born in the 1960s or 1970s, had a significant odds ratio of having a BRCA mutation, OR 2.88 (1.26, 6.57), p=0.012 and OR 4.06 (1.62, 10.36), p=0.003, respectively. Conclusions: The Bahamas has undergone a rapid change from a developing country fertility pattern in the 1950s and by 1970 to a developed country's fertility pattern, in one generation. These changes influence breast and ovarian cancer risk and are associated with younger age of onset of breast cancer. We documented that 2.8% of Bahamian women without breast or ovarian cancer who had a family history of breast cancer had a deleterious mutation in BRCA 1 or 2. 40% of the 1,857 unaffected women who were offered genetic testing had a family history; thus, the prevalence of these mutations in the population is approximately 1% overall. However, the incidence of ovarian cancer is low. The unintended consequence of TAH-BSO for birth control and menorrhagia is a decrease in expected rates of both breast cancer and ovarian cancer. Citation Format: Sophia HL George, Ana Sandoval Leon, Talia Donenberg, Raleigh Bulter, Darron Halliday, DuVaughn Curling, Theodore Turnquest, John Lunn, Mohammad R. Akbari, Steven Narod, Judith Hurley. Changing fertility factors affecting breast cancer in the Bahamas [abstract]. In: Proceedings of the Tenth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2017 Sep 25-28; Atlanta, GA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2018;27(7 Suppl):Abstract nr B81.