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

Abstract

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.

Breast Cancer in the Caribbean

“…Among Bahamian BC patients, surgery was the preferred method of treatment (later confirmed by a report of 79% (110/194) of BC participants who had a surgical mastectomy), with modified radical mastectomy being the top choice, in contrast to radiation used only in 6.5% of patients, with no patient on record for radiotherapy in 2011 [ 13 , 113 ]. A follow-up of BRCA1/2 mutation carriers revealed a lower than preferred (three out of 13) uptake of preventive surgery among unaffected persons and 46% (36 out of 78) overall which shows promise regarding the effectiveness of the genetic program [ 114 ].…”

“…A national genetic screening program ( BRCA1/2 variant founder-mutation panel) is being offered to manage the burden of BC among Bahamian women resulting from several studies that have discovered a high prevalence of BRCA1/2 founder mutations among unselected affected BC persons in addition to unaffected women with a family history of breast and ovarian cancer [ 53 , 60 , 88 , 89 ]. However, it is expected that inexpensive next-generation sequencing will be included in this program to offer universal genetic testing for BRCA1 and BRCA2 [ 114 ]. As a measure to improve disease outcome, prophylactic treatment (such as salpingo-oophorectomy and bilateral mastectomy or hormone therapy) is offered to all mutation carriers in the Bahamas, on account of 80-90% lifetime risk of developing BC [ 13 , 114 , 121 ].…”

“…However, it is expected that inexpensive next-generation sequencing will be included in this program to offer universal genetic testing for BRCA1 and BRCA2 [ 114 ]. As a measure to improve disease outcome, prophylactic treatment (such as salpingo-oophorectomy and bilateral mastectomy or hormone therapy) is offered to all mutation carriers in the Bahamas, on account of 80-90% lifetime risk of developing BC [ 13 , 114 , 121 ]. Responsiveness to genetic testing by ARR was more successful when contacted directly by a genetic counselor than through other means, which is not the standard practice in the United States and thus shows the need for culturally tailored initiatives [ 121 ].…”

Breast cancer in Trinidad and Tobago

“…[ 2 ] In the Caribbean region, the incidence and mortality were the highest in the Bahamas and the lowest in Haiti. [ 3 4 ] The previous literature data about BCa in Trinidad and Tobago (TnT) has been valuable in determining the BCa association with ancestry, geography, and mortality. [ 5 6 7 ] However, there has been no study detailing the histopathology and receptor analysis of BCa in TnT.…”

Clinical Cancer Genetics in a Lower-Middle Income Country: Considerations for Policymaking

“…This issue, along with other social and cultural factors that make case ascertainment and cancer genetic counseling challenging, have been described in other populations, notably in Asia 8 and the Carribbean. 9 …”