The phases of disclosing BRCA1/2 genetic information to offspring
The phases of disclosing BRCA1/2 genetic information to offspring
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DOI：
10.1002/pon.1344
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发表时间：
2008-08-01
期刊：
影响因子：
3.6
通讯作者：
Esplen, Mary Jane
中科院分区：
文献类型：
--
作者：
Clarke, Susan;Butler, Kate;Esplen, Mary Jane
Objective: Women who carry a genetic mutation for hereditary breast/ovarian cancer (BRCA1 or BRCA2) are at high risk to develop cancer. A positive genetic test result also has implications for a BRCA1/2 carrier's offspring who each have a 50% chance of inheriting the mutation. The dissemination of BRCA1/2-related information by carriers to offspring is not well understood. Our study examines the experiences of BRCA1/2 carriers in communicating genetic information to their offspring using a grounded theory approach.Methods: Qualitative data were obtained from a multi-site group therapy trial for BRCA1/2 carriers with primary themes identified and coded using the constant comparison technique and verified by team members.Results: Female participants had a mean age of 45.4 years, 83% were married, 71% bad children (ranging from ages 2 to 30 years) and 45.9% had a prior diagnosis of cancer. Dissemination of genetic information by BRCA1/2 carriers to their offspring was described as a process involving several distinct phases with specific challenges within each phase. Several themes were identified including dilemmas on 'if' and 'when' to disclose to offspring, concerns should offspring receive a positive test result for BRCA1/2, dilemmas around feeling a need to protect versus the need to inform, and women as being the primary communicators.Conclusion: These findings have implications for genetic counselling as well as follow-up. Copyright (C) 2008 John Wiley & Sons, Ltd.
