Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes-Reference-Cited by-同舟云学术

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

Published:2018-10-11 Issue:11 Volume:39 Page:1542-1552
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Walsh Michael F.¹^ORCID,Ritter Deborah I.²,Kesserwan Chimene³,Sonkin Dmitriy⁴^ORCID,Chakravarty Debyani¹,Chao Elizabeth⁵,Ghosh Rajarshi²,Kemel Yelena¹,Wu Gang³,Lee Kristy⁶,Kulkarni Shashikant²,Hedges Dale³,Mandelker Diana¹,Ceyhan‐Birsoy Ozge¹,Luo Minjie⁷,Drazer Michael⁸,Zhang Liying¹,Offit Kenneth¹,Plon Sharon E.²

Affiliation:

1. Memorial Sloan Kettering Cancer Center New York City New York USA

2. Baylor College of Medicine Houston Texas USA

3. St. Jude Children's Hospital Memphis Tennessee USA

4. National Cancer Institute Bethesda Maryland USA

5. University of California Irvine California USA

6. University of North Carolina Chapel Hill North Carolina USA

7. Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

8. University of Chicago Chicago Illinois USA

Funder

National Human Genome Research Institute

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Baylor College of Medicine

V Foundation for Cancer Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23640

Reference56 articles.

1. Prospective genomic profiling of prostate cancer across disease states reveals germline and somatic alterations that may affect clinical decision making;Abida W.;JCO Precision Oncology,2017

2. Patterns of genomic loss of heterozygosity predict homologous recombination repair defects in epithelial ovarian cancer

3. Signatures of mutational processes in human cancer

4. Knudson's hypothesis and theTP53 revolution

5. Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging

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