Rare De Novo Germline Copy-Number Variation in Testicular Cancer | Zendy

Zsofia K. Stadler | Zendy; Diane Esposito | Zendy; Sohela Shah | Zendy; Joseph Vijai | Zendy; Boris Yamrom | Zendy; Dan Levy | Zendy; Yoon-ha Lee | Zendy; Jude Kendall | Zendy; Anthony Leotta | Zendy; Michael Ronemus | Zendy; Nichole Hansen | Zendy; Kara Sarrel | Zendy; Rohini RauMurthy | Zendy; Kasmintan A. Schrader | Zendy; Noah D. Kauff | Zendy; Robert J. Klein | Zendy; Steven M. Lipkin | Zendy; Rajmohan Murali | Zendy; Mark E. Robson | Zendy; Joel Sheinfeld | Zendy; Darren R. Feldman | Zendy; George J. Bosl | Zendy; Larry Norton | Zendy; Michael Wigler | Zendy; Kenneth Offit | Zendy

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Rare De Novo Germline Copy-Number Variation in Testicular Cancer

Author(s) -

Zsofia K. Stadler,

Diane Esposito,

Sohela Shah,

Joseph Vijai,

Boris Yamrom,

Dan Levy,

Yoon-ha Lee,

Jude Kendall,

Anthony Leotta,

Michael Ronemus,

Nichole Hansen,

Kara Sarrel,

Rohini RauMurthy,

Kasmintan A. Schrader,

Noah D. Kauff,

Robert J. Klein,

Steven M. Lipkin,

Rajmohan Murali,

Mark E. Robson,

Joel Sheinfeld,

Darren R. Feldman,

George J. Bosl,

Larry Norton,

Michael Wigler,

Kenneth Offit

Publication year - 2012

Publication title -

the american journal of human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.661

H-Index - 302

eISSN - 1537-6605

pISSN - 0002-9297

DOI - 10.1016/j.ajhg.2012.06.019

Subject(s) - germline , biology , copy number variation , genetics , cancer , germline mutation , testicular cancer , genome wide association study , loss of heterozygosity , allele , mutation , genome , genotype , gene , single nucleotide polymorphism

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. Germline de novo copy-number variations (CNVs) have been observed in sporadic neurocognitive 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.

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