A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas

Donenberg, Talia; Lunn, John; Curling, DuVaughn; Turnquest, Theodore; Krill-Jackson, Elisa; Royer, Robert E.; Narod, Steven A.; Hurley, Judith

doi:10.1007/s10549-010-1156-9

Cited by 64 publications

(62 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This is the most common founder mutation in the Jewish population, but has also been reported among several other non-Jewish ethnic groups, including Mexican, Chilean, and Bahamian groups [20, 27–29]. The proportion of the BRCA1 185delAG mutation in the current study (54%) is the highest one reported to date in an unselected breast cancer study in a Latin American country.…”

Section: Discussionsupporting

confidence: 67%

“…In addition, the BRCA1 3878delTA mutation has been reported twice in individuals of Latin American ancestry in the BIC database. The BRCA1 943ins10 mutation detected in one case in the study is the most commonly reported African founder mutation [28, 30] and a common Bahamian founder mutation [29]. The mutation has been reported 34 times in the BIC database, mainly in individuals of African descent, but also in individuals of Latin American descent [31–32].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru

et al. 2014

View full text Add to dashboard Cite

The prevalence of BRCA1 and BRCA2 mutations among breast cancer patients in Peru has not yet been explored. We enrolled 266 women with breast cancer from a National cancer hospital in Lima, Peru, unselected for age or family history. DNA was screened with a panel of 114 recurrent Hispanic BRCA mutations (HISPANEL). Among the 266 cases, thirteen deleterious mutations were identified (eleven in BRCA1 and two in BRCA2), representing 5% of the total. The average age of breast cancer in the mutation-positive cases was 44 years. BRCA1 185delAG represented seven of the eleven mutations in BRCA1. Other mutations detected in BRCA1 included: two 2080delA, one 943ins10, and one 3878delTA. The BRCA2 3036del4 mutation was seen in two patients. Given the relatively low cost of the HISPANEL test, one should consider offering this test to all Peruvian women with breast or ovarian cancer.

show abstract

Section: Discussionsupporting

confidence: 67%

Section: Discussionmentioning

confidence: 99%

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru

et al. 2014

View full text Add to dashboard Cite

show abstract

“…Mutation BRCA1 185delAG was the most prevalent, observed in 7 (54%) of the 13 mutation carriers, and is the most common founder mutation in the Ashkenazi Jewish population. It has also been reported in other population groups living in Mexico, Chile, and the Bahamas [19,29,30]. The frequency observed in Peru (54%) is the highest yet reported in nonselected populations in Latin America.…”

Section: Perumentioning

confidence: 62%

Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review

Ossa

Torres

2016

The Oncologist

View full text Add to dashboard Cite

Background. Numerous epidemiological factors affect the probability of developing breast or ovarian cancer, but no predictor is as determinant as inheriting a mutation in BRCA1 or BRCA2. The concept of the founder effect explains the reduced genetic variability in some populations, according to the theory that new populations can be formed from a reduced number of individuals, so the new population would carry only a small fraction of the genetic variability of the original population. The main purpose of this review is to provide an update on the state of the art in founder mutations and some recurrent mutations that have recently been described in Latin America. Methods. A literature search was performed in the electronic databases of PUBMED, EMBASE, LILACS, and BIREME using the terms BRCA1, BRCA2, founder mutation, Latin American population, and Hispanic. Sixty-two papers were identified, of which 38 were considered relevant for this review. Each result is shown per country. Results. In Latin America, clear founder effects have been reported in Mexico (BRCA1 del exons 9-12), Brazil (BRCA1 5382insC and BRCA2 c.156_157insAlu), and Colombia (BRCA1 3450del4, A1708E, and BRCA2 3034del4) and in Latinas residing

show abstract

“…9 With regard to non-colonic malignancies, a breast cancer study conducted in the Bahamas, demonstrates the degree to which a founder effect can change a population's hereditary cancer burden for a malignancy that is generally sporadic in nature. 26 In this study, breast cancer patients in the population unselected for age or family history were found to have a very high BRCA mutation rate of 23%. Supporting the possibility of hereditary CRC in the Acadian region is that the white population has statistically significantly higher CRC rates compared with the state as a whole, which may share similar environmental exposures with the Acadian parishes.…”

Section: Discussionmentioning

confidence: 75%

Colorectal Cancer Incidence Rates in the Louisiana Acadian Parishes Demonstrated to be Among the Highest in the United States

Karlitz

Blanton

Andrews

et al. 2014

Clinical and Translational Gastroenterology

View full text Add to dashboard Cite

Objectives:Determine whether colorectal cancer (CRC) rates are disproportionately high in the French-Acadian region (population 1.2 million) of Louisiana, home of the Cajuns, a founder population.Methods:2005–2009 cancer incidence rates were stratified by age/race/gender in the 18 Acadian parish region and 9-parish subgroup with higher proportions of French speakers and compared with Louisiana and United States rates. Parishes were identified through language census data. A total of 3,288 CRC cases were identified in the Acadian region and 11,737 in Louisiana.Results:CRC rates in whites and white males in the 18 parishes were statistically significantly higher than both Louisiana and US rates. In the 9 parishes, rates increased further; whites had an incidence of 56.1/100,000, 13% higher than Louisiana (P<0.0003) and 23% higher than US rates (P<0.0001). In white males, incidence was 72.6/100,000, 19% higher than Louisiana (P<0.0002) and 37% higher than US rates (P<0.0001). If the 9-parish regions were considered a “state,” white males would have the highest CRC incidence in the United States by 11% (P<0.0175) compared with other white male populations.Conclusions:CRC rates are among the highest in the United States, increasing with the proportion of French speakers, a marker for the Cajun population. This appears to be the first study identifying a high rate of cancer in a large, regional, US founder population, raising the possibility of a genetic predisposition. Alternatively, an unidentified, robust environmental risk factor may be present. Future studies are needed to identify genetic and/or other risk factors in this population.

show abstract

A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas

Cited by 64 publications

References 34 publications

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru

Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review

Colorectal Cancer Incidence Rates in the Louisiana Acadian Parishes Demonstrated to be Among the Highest in the United States

Contact Info

Product

Resources

About