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

Steven A Narod,Raleigh Butler, David Bobrowski,Mohammad R Akbari, DuVaughan Curling,John Lunn, Catherine Ho, Sara Panahi,Marcia Llacuachaqui,Talia Donenberg,Judith Hurley

MOLECULAR GENETICS & GENOMIC MEDICINE(2018)

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摘要
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 46years (age range 22-73years). The mean time of follow-up was 4.4years. 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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关键词
Bahamas,BRCA1,BRCA2,breast cancer,genetic testing,prophylactic bilateral mastectomy,prophylactic bilateral salpingo-oophorectomy
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