Prevalence of founder mutations in the <scp>BRCA1</scp> and <scp>BRCA2</scp> genes among unaffected women from the Bahamas

Trottier, Magan; Lunn, John; Butler, Raleigh; Curling, D.; Turnquest, Theodore; Francis, William J.; Halliday, Darron; Royer, Robert E.; Zhang, S.; Li, S.; Thompson, Islay; Donenberg, Talia; Hurley, Judith; Akbari, Mohammad Reza; Narod, Steven A.

doi:10.1111/cge.12602

Cited by 25 publications

(22 citation statements)

References 15 publications

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“…Specific BRCA founder mutations have been described in a number of other founder populations (in addition to the Jewish population). These include Polish, French, Swedish, Norwegian, Dutch, Hispanic, Malaysian, Afro-American, Pakistani, Filipino, Inuit and Bahamian populations [ 53 , 54 , 55 ]. Findings of BRCA founder mutation testing studies from the Jewish population could also have implications for BRCA -testing in other founder populations.…”

Section: Resultsmentioning

confidence: 99%

Population Based Testing for Primary Prevention: A Systematic Review

Manchanda

Gaba

2018

Cancers

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The current clinical model for genetic testing is based on clinical-criteria/family-history (FH) and a pre-defined mutation probability threshold. It requires people to develop cancer before identifying unaffected individuals in the family to target prevention. This process is inefficient, resource intensive and misses >50% of individuals or mutation carriers at risk. Population genetic-testing can overcome these limitations. It is technically feasible to test populations on a large scale; genetic-testing costs are falling and acceptability and awareness are rising. MEDLINE, EMBASE, Pubmed, CINAHL and PsychINFO databases were searched using free-text and MeSH terms; retrieved reference lists of publications were screened; additionally, web-based platforms, Google, and clinical-trial registries were searched. Quality of studies was evaluated using appropriate check-lists. A number of studies have evaluated population-based BRCA-testing in the Jewish population. This has been found to be acceptable, feasible, clinically-effective, safe, associated with high satisfaction rates and extremely cost-effective. Data support change in guidelines for population-based BRCA-testing in the Jewish population. Population panel testing for BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 gene mutations is the most cost-effective genetic-testing strategy in general-population women and can prevent thousands more breast and ovarian cancers than current clinical-criteria based approaches. A few ongoing studies are evaluating population-based genetic-testing for multiple cancer susceptibility genes in the general population but more implementation studies are needed. A future population-testing programme could also target other chronic diseases.

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Section: Resultsmentioning

confidence: 99%

Population Based Testing for Primary Prevention: A Systematic Review

Manchanda

Gaba

2018

Cancers

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“…Table 1 shows the prevalence for BRCA mutations for selected countries in Latin America. Within the region, the highest frequency of BRCA mutations has been reported in The Bahamas with 23% of women with breast cancer and 2.8% of unaffected women with family history of breast/ovarian cancer having BRCA mutations (20, 21). …”

Section: Introductionmentioning

confidence: 99%

Genetic Cancer Risk Assessment for Breast Cancer in Latin America

Chávarri‐Guerra

Blazer

Weitzel

2017

RIC

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In Latin America, breast cancer is the most common malignancy in women, and limited available data suggest that up to 15% of all breast cancer cases in the region are hereditary. Genetic cancer risk assessment and counseling is a critical component of the appropriate clinical care of patients with hereditary breast cancer and their families. Unfortunately, genetic services are underdeveloped across Latin America, and access to genetic testing and counseling is very scarce in the region. Barriers contributing to the access to genetic care are high cost and lack of insurance coverage for genetic tests, insufficient oncogenetics training or expertise, nonexistence of genetic counseling as a clinical discipline, and lack of supportive healthcare policies. In this review, we highlight relevant initiatives undertaken in several Latin American countries aimed at creating genetic cancer risk assessment programs. Additionally, we present a review of the scientific literature on the current status of breast cancer genomics in Latin America, with specific emphasis on demographic indicators, access to cancer genetic care, training and strategies to improve outcomes, and international collaborations. (Rev Inves ClIn. 2017;69:94-102)

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“…The survey population included female residents in the Bahamas for whom a mutation had been detected by genetic testing through the course of several studies conducted between 2004 and 2012 (Akbari et al., ; Trottier et al., , ). When a mutation was identified in a family, genetic counseling and testing was offered to other at‐risk women in the family (Trottier et al., ).…”

Section: Methodsmentioning

confidence: 99%

“…The Bahamas is an island country in the Caribbean with a population of 300,000 which has approximately 100 new breast cancer cases per year (Akbari et al., ). The Bahamas has the highest known prevalence of BRCA mutations among breast cancer patients of any country; 23% of women with breast cancer in the Bahamas were found to carry one of seven founder mutations in the BRCA1 or BRCA2 gene (Akbari et al., ; Trottier et al., ). From 2004 to 2008 selected familial cases of breast cancer were offered testing.…”

Section: Introductionmentioning

confidence: 99%

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Short report: Follow‐up of Bahamian women with a BRCA1 or BRCA2 mutation

Narod

Butler²,

Bobrowski

et al. 2017

Molec Gen & Gen Med

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PurposeWe sought to determine to what extent the knowledge of carrying a BRCA1 or BRCA2 mutation influences the uptake of preventive surgeries in Bahamian women, including bilateral salpingo‐oophorectomy and bilateral mastectomy.Patients and methodsThe study population consisted of 78 female residents of the Bahamas for whom a BRCA1 or BRCA2 mutation had been detected between 2004 and 2014. The mean age of the 78 participants at the time of genetic testing was 46 years (age range 22–73 years). The mean time of follow‐up was 4.4 years.ResultsOf the 78 study participants, 19 women had a bilateral salpingo‐oophorectomy (24%). Seven out of 37 patients who had unilateral breast cancer chose to remove the unaffected contralateral breast (19%). Three of 13 patients with no history of breast cancer chose to have a prophylactic bilateral mastectomy (23%).ConclusionPreventive surgery is an acceptable option for a significant proportion of Bahamian women with a BRCA1 or BRCA2 mutation. It will be important to identify and reduce barriers to preventive surgery in the Bahamas in order that the benefit of getting testing can be fully realized.

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Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas

Cited by 25 publications

References 15 publications

Population Based Testing for Primary Prevention: A Systematic Review

Population Based Testing for Primary Prevention: A Systematic Review

Genetic Cancer Risk Assessment for Breast Cancer in Latin America

Short report: Follow‐up of Bahamian women with a BRCA1 or BRCA2 mutation

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