A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago

作者：Donenberg Talia; Ahmed Humayun; Royer Robert; Zhang Shiyu; Narod Steven A; George Sophia; Akbari Mohammad R; Ali Jameel; Hurley Judith^*

来源：Breast Cancer Research and Treatment, 2016, 159(1): 131-138.

DOI：10.1007/s10549-016-3870-4

• Breast cancer
• BRCA1
• Hereditary
• Bahamas

The mortality rate from breast cancer in the nation of Trinidad and Tobago is among the highest of any country in the Caribbean region. The contribution of inherited gene mutations to the burden of breast cancer in Trinidad and Tobago has not been studied. We examined the prevalence of mutations in three susceptibility genes (BRCA1, BRCA2, and PALB2) in breast cancer patients in Trinidad and Tobago. We studied 268 unselected breast cancer patients from Trinidad and Tobago and looked for mutations across the entire coding sequences of BRCA1, BRCA2, and PALB2. Overall, 28 of 268 patients (10.4 %) had a mutation in one of the three genes, including 15 in BRCA1, ten in BRCA2, two in PALB2, and one in both BRCA2 and PALB2. There were 25 different mutations identified; of these, four mutations were seen in two patients each. Given the high prevalence of mutations, it is reasonable to offer genetic testing for these three genes to all breast cancer patients in Trinidad and Tobago.

• 出版日期2016-8
• 单位河北医科大学