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The Landscape of the Heritable Cancer Genome

The Landscape of the Heritable Cancer Genome Published OnlineFirst March 17, 2021; DOI: 10.1158/0008-5472.CAN-20-3348 CANCER RESEARCH | GENOME AND EPIGENOME 1 2 3 4 1 Viola Fanfani , Luca Citi , Adrian L. Harris , Francesco Pezzella , and Giovanni Stracquadanio ABSTRACT Genome-wide association studies (GWAS) have found hun- at least 10% of the heritable risk for 14 of them, including dreds of single-nucleotide polymorphisms (SNP) associated late onset malignancies. We then identified 1,146 genes, called with increased risk of cancer. However, the amount of heritable cancer heritability genes (CHG), explaining a significant pro- risk explained by SNPs is limited, leaving most of the cancer portion of cancer heritability. CHGs were involved in hallmark heritability unexplained. Tumor sequencing projects have processes controlling the transformation from normal to shown that causal mutations are enriched in genic regions. cancerous cells. Importantly, 60 of them also harbored somatic We hypothesized that SNPs located in protein coding genes driver mutations, and 27 are tumor suppressors. Our results and nearby regulatory regions could explain a significant pro- suggest that germline and somatic mutation information could portion of the heritable risk of cancer. To perform gene-level be exploited to identify subgroups of individuals at higher risk heritability analysis, we developed a new http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Cancer Research American Association of Cancer Research

The Landscape of the Heritable Cancer Genome

The Landscape of the Heritable Cancer Genome

Cancer Research , Volume 81 (10) – May 15, 2021

Abstract

Published OnlineFirst March 17, 2021; DOI: 10.1158/0008-5472.CAN-20-3348 CANCER RESEARCH | GENOME AND EPIGENOME 1 2 3 4 1 Viola Fanfani , Luca Citi , Adrian L. Harris , Francesco Pezzella , and Giovanni Stracquadanio ABSTRACT Genome-wide association studies (GWAS) have found hun- at least 10% of the heritable risk for 14 of them, including dreds of single-nucleotide polymorphisms (SNP) associated late onset malignancies. We then identified 1,146 genes, called with increased risk of cancer. However, the amount of heritable cancer heritability genes (CHG), explaining a significant pro- risk explained by SNPs is limited, leaving most of the cancer portion of cancer heritability. CHGs were involved in hallmark heritability unexplained. Tumor sequencing projects have processes controlling the transformation from normal to shown that causal mutations are enriched in genic regions. cancerous cells. Importantly, 60 of them also harbored somatic We hypothesized that SNPs located in protein coding genes driver mutations, and 27 are tumor suppressors. Our results and nearby regulatory regions could explain a significant pro- suggest that germline and somatic mutation information could portion of the heritable risk of cancer. To perform gene-level be exploited to identify subgroups of individuals at higher risk heritability analysis, we developed a new

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    Comprehensive Characterization of Cancer Driver Genes and Mutations

    Cell, 174

Publisher
American Association of Cancer Research
Copyright
©2021 American Association for Cancer Research.
ISSN
0008-5472
eISSN
1538-7445
DOI
10.1158/0008-5472.can-20-3348
Publisher site
See Article on Publisher Site

Abstract

Published OnlineFirst March 17, 2021; DOI: 10.1158/0008-5472.CAN-20-3348 CANCER RESEARCH | GENOME AND EPIGENOME 1 2 3 4 1 Viola Fanfani , Luca Citi , Adrian L. Harris , Francesco Pezzella , and Giovanni Stracquadanio ABSTRACT Genome-wide association studies (GWAS) have found hun- at least 10% of the heritable risk for 14 of them, including dreds of single-nucleotide polymorphisms (SNP) associated late onset malignancies. We then identified 1,146 genes, called with increased risk of cancer. However, the amount of heritable cancer heritability genes (CHG), explaining a significant pro- risk explained by SNPs is limited, leaving most of the cancer portion of cancer heritability. CHGs were involved in hallmark heritability unexplained. Tumor sequencing projects have processes controlling the transformation from normal to shown that causal mutations are enriched in genic regions. cancerous cells. Importantly, 60 of them also harbored somatic We hypothesized that SNPs located in protein coding genes driver mutations, and 27 are tumor suppressors. Our results and nearby regulatory regions could explain a significant pro- suggest that germline and somatic mutation information could portion of the heritable risk of cancer. To perform gene-level be exploited to identify subgroups of individuals at higher risk heritability analysis, we developed a new

Journal

Cancer ResearchAmerican Association of Cancer Research

Published: May 15, 2021

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