作者
Joël Vos, Wilma Otten, Christi Van Asperen, Anna Jansen, Fred Menko, Aad Tibben
发表日期
2008/8
期刊
Psycho‐Oncology
卷号
17
期号
8
页码范围
822-830
出版商
John Wiley & Sons, Ltd.
简介
Objective: Unclassified variants (UVs, variants of uncertain clinical significance) are found in 13% of all BRCA1/2 mutation analyses. Little is known about the counsellees' recall and interpretation of a UV, and its psychosocial/medical impact.
Method: Retrospective semi‐structured interviews with open questions and five‐point Likert scales were carried out in 24 counsellees who received a UV result 3 years before (sd=1.9).
Results: Sixty‐seven percent (16/24) recalled the UV result as a non‐informative DNA result; 29% recalled a pathogenic result. However, 79% of all counsellees interpreted the UV result as a genetic predisposition for cancer. Variations in recall and interpretation were unexplained by demographics, cancer history of themselves and relatives, and communication aspects of UV disclosure. Sixty‐seven percent perceived genetic counselling as completed, whereas 71% expected to receive new …
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