The genomic landscapes of human breast and colorectal cancers by Wood Laura D, Parsons D Williams, Jones Sin, Lin Jimmy, Sjöblom Tobias, Leary Rebecca J, Shen Dong, Boca Simina M, Barber Thomas, Ptak Janine, Silliman Natalie, Szabo Steve, Dezso Zoltan, Ustyanksky Vadim, Nikolskaya Tatiana, Nikolsky Yuri, Karchin Rachel, Wilson Paul A, Kaminker Joshua S, Zhang Zemin, Croshaw Randal, Willis Joseph, Dawson Dawn, Shipitsin Michail, Willson James K V, Sukumar Saraswati, Polyak Kornelia, Park Ben Ho, Pethiyagoda Charit L, Pant P V Krishna, Ballinger Dennis G, Sparks Andrew B, Hartigan James, Smith Douglas R, Suh Erick, Papadopoulos Nickolas, Buckhaults Phillip, Markowitz Sanford D, Parmigiani Giovanni, Kinzler Kenneth W, Velculescu Victor E, Vogelstein Bert in Science (New York, N.Y.) (2007).

[PMID: 17932254] PubMed


Human cancer is caused by the accumulation of mutations in oncogenes and tumor suppressor genes. To catalog the genetic changes that occur during tumorigenesis, we isolated DNA from 11 breast and 11 colorectal tumors and determined the sequences of the genes in the Reference Sequence database in these samples. Based on analysis of exons representing 20,857 transcripts from 18,191 genes, we conclude that the genomic landscapes of breast and colorectal cancers are composed of a handful of commonly mutated gene "mountains" and a much larger number of gene "hills" that are mutated at low frequency. We describe statistical and bioinformatic tools that may help identify mutations with a role in tumorigenesis. These results have implications for understanding the nature and heterogeneity of human cancers and for using personal genomics for tumor diagnosis and therapy.

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