title: Rare de novo germline copy-number variation in testicular cancer.
abstract: 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.
authors.affiliation: Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA.
authors.forename: Zsofia K
authors.initials: ZK
authors.lastname: Stadler
authors.forename: Diane
authors.initials: D
authors.lastname: Esposito
authors.forename: Sohela
authors.initials: S
authors.lastname: Shah
authors.forename: Joseph
authors.initials: J
authors.lastname: Vijai
authors.forename: Boris
authors.initials: B
authors.lastname: Yamrom
authors.forename: Dan
authors.initials: D
authors.lastname: Levy
authors.forename: Yoon-Ha
authors.initials: YH
authors.lastname: Lee
authors.forename: Jude
authors.initials: J
authors.lastname: Kendall
authors.forename: Anthony
authors.initials: A
authors.lastname: Leotta
authors.forename: Michael
authors.initials: M
authors.lastname: Ronemus
authors.forename: Nichole
authors.initials: N
authors.lastname: Hansen
authors.forename: Kara
authors.initials: K
authors.lastname: Sarrel
authors.forename: Rohini
authors.initials: R
authors.lastname: Rau-Murthy
authors.forename: Kasmintan
authors.initials: K
authors.lastname: Schrader
authors.forename: Noah
authors.initials: N
authors.lastname: Kauff
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Klein
authors.forename: Steven M
authors.initials: SM
authors.lastname: Lipkin
authors.forename: Rajmohan
authors.initials: R
authors.lastname: Murali
authors.forename: Mark
authors.initials: M
authors.lastname: Robson
authors.forename: Joel
authors.initials: J
authors.lastname: Sheinfeld
authors.forename: Darren
authors.initials: D
authors.lastname: Feldman
authors.forename: George
authors.initials: G
authors.lastname: Bosl
authors.forename: Larry
authors.initials: L
authors.lastname: Norton
authors.forename: Michael
authors.initials: M
authors.lastname: Wigler
authors.forename: Kenneth
authors.initials: K
authors.lastname: Offit
mesh_terms: D000328:Adult; D056915:DNA Copy Number Variations / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D023281:Genomics / Q000379:methods*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D010290:Parents; D012107:Research Design; D013736:Testicular Neoplasms / Q000235:genetics*