@article{708dff39cc0f474eb8b183f09981d637,
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.",
author = "Stadler, {Zsofia K.} and Diane Esposito and Sohela Shah and Joseph Vijai and Boris Yamrom and Dan Levy and Lee, {Yoon Ha} and Jude Kendall and Anthony Leotta and Michael Ronemus and Nichole Hansen and Kara Sarrel and Rohini Rau-Murthy and Kasmintan Schrader and Noah Kauff and Klein, {Robert J.} and Lipkin, {Steven M.} and Rajmohan Murali and Mark Robson and Joel Sheinfeld and Darren Feldman and George Bosl and Larry Norton and Michael Wigler and Kenneth Offit",
note = "Funding Information: This work was supported by the Starr Cancer Consortium; the Simons Foundation (M.W.); the Breast Cancer Research Foundation; the American Society of Clinical Oncology Career Development Award and the Damon Runyon Cancer Research Foundation Clinical Investigator Award (both to Z.K.S.); the Society of Memorial Sloan-Kettering Cancer Center (MSKCC); the Goldstein Fund of the Program in Cancer Prevention, Control, and Population Research of MSKCC; the Claire and Meyer W. Frank and Leann Frank Charitable Foundation; the Lymphoma Foundation; the Niehaus, Weissenbach, Southworth fund of the Robert and Kate Niehaus Clinical Cancer Genetics Initiative at MSKCC; the Sabin Family Research Fund; and the Ruth Silverman Trust. M.W. is an American Cancer Society Research Professor. We would also like to acknowledge Olusegun Isaac Alatise for his contributions. ",
year = "2012",
month = aug,
day = "10",
doi = "10.1016/j.ajhg.2012.06.019",
language = "English",
volume = "91",
pages = "379--383",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "2",
}