Germline, hematopoietic, mosaic, and somatic variation: interplay between inherited and acquired genetic alterations in disease assessment

被引：5
|
作者：
Konnick, Eric Q. [1 ]
Pritchard, Colin C. [1 ]
机构：
[1] Univ Washington, Med Ctr, Dept Lab Med, Box 357110,1959 NE Pacific St, Seattle, WA 98195 USA
来源：
GENOME MEDICINE | 2016年 / 8卷
关键词：
SUSPECTED LYNCH SYNDROME; CANCER; RISK;
D O I：
10.1186/s13073-016-0350-8
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Advances in genetic analysis have revealed new complexities in the interpretation of genetic variants. Correct assessment of a genetic variant relies on the clinical context and knowledge of the underlying biology. We outline four scenarios encountered in genetic testing where careful consideration of the origin of genetic variation is required for variant interpretation.
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页数：3
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