Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

被引：63
|
作者：
Li, Marilyn M. [1 ]
Chao, Elizabeth [2 ]
Esplin, Edward D. [3 ]
Miller, David T. [4 ]
Nathanson, Katherine L. [5 ]
Plon, Sharon E. [6 ,7 ]
Scheuner, Maren T. [8 ,9 ,10 ]
Stewart, Douglas R. [11 ]
机构：
[1] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Philadelphia, PA 19104 USA
[2] Univ Calif Irvine, Sch Med, Div Genet & Genom Med, Irvine, CA 92717 USA
[3] Invitae, San Francisco, CA USA
[4] Brigham & Womens Hosp, Dept Pathol, Div Genet & Genom, 75 Francis St, Boston, MA 02115 USA
[5] Univ Penn, Perelman Sch Med, Dept Med Translat Med & Human Genet, Philadelphia, PA 19104 USA
[6] Baylor Coll Med, Houston, TX 77030 USA
[7] Texas Childrens Hosp, Houston, TX 77030 USA
[8] UCSF Sch Med, Dept Med, Dept Pediat, Div Med Genet, San Francisco, CA USA
[9] UCSF Sch Med, Dept Med, Div Hematol Oncol, San Francisco, CA USA
[10] San Francisco VA Hlth Care Syst, Clin Genet Program, San Francisco, CA USA
[11] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, Rockville, MD USA
[12] Amer Coll Med Genet & Genom, Bethesda, MD USA
来源：
GENETICS IN MEDICINE | 2020年 / 22卷 / 07期
关键词：
presumed germline pathogenic variants (PGPV); somatic variants; tumor testing; next-generation sequencing (NGS); secondary findings; BREAST-CANCER; GUIDELINE; DISEASE; HEALTH; IMPACT; GENES; DNA;
D O I：
10.1038/s41436-020-0783-8
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：1142 / 1148
页数：7
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