Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation

被引：31
|
作者：
Monteiro, Alvaro N. [1 ]
Bouwman, Peter [3 ]
Kousholt, Arne N. [3 ]
Eccles, Diana M. [4 ]
Millot, Gael A. [5 ]
Masson, Jean-Yves [6 ]
Schmidt, Marjanka K. [3 ]
Sharan, Shyam K. [7 ]
Scully, Ralph [8 ]
Wiesmueller, Lisa [9 ]
Couch, Fergus [10 ]
Vreeswijk, Maaike P. G. [2 ]
机构：
[1] H Lee Moffitt Canc Ctr & Res Inst, Canc Epidemiol, Tampa, FL 33612 USA
[2] Leiden Univ, Med Ctr, Human Genet, NL-2300 RC Leiden, Netherlands
[3] Netherlands Canc Inst, Oncode Inst, Div Mol Pathol, Amsterdam, Netherlands
[4] Univ Southampton, Fac Med, Canc Sci, Southampton, Hants, England
[5] Inst Pasteur, USR CNRS 3756, Hub DBC, Paris, France
[6] Laval Univ, CHU Quebec Univ Laval, Div Oncol, Canc Res Ctr, Quebec City, PQ, Canada
[7] NCI, Frederick, MD 21701 USA
[8] Beth Israel Deaconess Med Ctr, Boston, MA 02215 USA
[9] Ulm Univ, Ulm, Baden Wurttembe, Switzerland
[10] Mayo Clin, Rochester, MN USA
来源：
JOURNAL OF MEDICAL GENETICS | 2020年 / 57卷 / 08期
关键词：
cancer; breast; clinical genetics; genetic screening; counselling; getting research into practice; molecular genetics; MISSENSE VARIANTS; SEQUENCE VARIANTS; TUMOR SUPPRESSION; BRCA1; MUTATIONS; PARP INHIBITOR; REPAIR; CLASSIFICATION; PREDICTION; THERAPY; DOMAIN;
D O I：
10.1136/jmedgenet-2019-106368
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：509 / 518
页数：10
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