Rare De Novo Germline Copy-Number Variation in Testicular Cancer

被引：15

作者：

Stadler, Zsofia K. ^{[1
]}

Esposito, Diane ^{[2
]}

Shah, Sohela ^{[3
]}

Vijai, Joseph ^{[1
]}

Yamrom, Boris ^{[2
]}

Levy, Dan ^{[2
]}

Lee, Yoon-ha ^{[2
]}

Kendall, Jude ^{[2
]}

Leotta, Anthony ^{[2
]}

Ronemus, Michael ^{[2
]}

Hansen, Nichole ^{[1
]}

Sarrel, Kara ^{[1
]}

Rau-Murthy, Rohini ^{[1
]}

Schrader, Kasmintan ^{[3
]}

Kauff, Noah ^{[1
]}

Klein, Robert J. ^{[3
]}

Lipkin, Steven M. ^{[4
]}

Murali, Rajmohan ^{[5
,6
]}

Robson, Mark ^{[1
]}

Sheinfeld, Joel ^{[7
]}

Feldman, Darren ^{[1
]}

Bosl, George ^{[1
]}

Norton, Larry ^{[1
]}

Wigler, Michael ^{[2
]}

Offit, Kenneth ^{[1
,3
]}

机构：

[1] Mem Sloan Kettering Canc Ctr, Dept Med, New York, NY 10065 USA

[2] Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

[3] Sloan Kettering Inst, Canc Biol & Genet Program, New York, NY 10065 USA

[4] Weill Cornell Med Coll, Dept Med, New York, NY 10065 USA

[5] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10065 USA

[6] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, New York, NY 10065 USA

[7] Mem Sloan Kettering Canc Ctr, Dept Surg, New York, NY 10065 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2012年 / 91卷 / 02期

关键词：

CELL TUMORS; SCHIZOPHRENIA; ASSOCIATION; MUTATIONS;

D O I：

10.1016/j.ajhg.2012.06.019

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Although heritable factors are an important determinant of risk of early-onset cancer, the majority of these malignancies appear to occur sporadically without identifiable risk factors. Germ line de novo copy-number variations (CNVs) have been observed in sporadic neuro-cognitive and cardiovascular disorders. We explored this mechanism in 382 genomes of 116 early-onset cancer case-parent trios and unaffected siblings. Unique de novo germline CNVs were not observed in 107 breast or colon cancer trios or controls but were indeed found in 7% of 43 testicular germ cell tumor trios; this percentage exceeds background CNV rates and suggests a rare de novo genetic paradigm for susceptibility to some human malignancies.

引用

页码：379 / 383

页数：5

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