title: Genome-wide sequencing to identify the cause of hereditary cancer syndromes: with examples from familial pancreatic cancer.
abstract: Advances in our understanding of the human genome and next-generation technologies have facilitated the use of genome-wide sequencing to decipher the genetic basis of Mendelian disease and hereditary cancer syndromes. However, the application of genome-wide sequencing in hereditary cancer syndromes has had mixed success, in part, due to complex nature of the underlying genetic architecture. In this review we discuss the use of genome-wide sequencing in both Mendelian diseases and hereditary cancer syndromes, highlighting the potential and challenges of this approach using familial pancreatic cancer as an example.
authors.affiliation: Ludwig Center for Cancer Genetics and Therapeutics, The Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA.
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Roberts
authors.forename: Alison P
authors.initials: AP
authors.lastname: Klein
mesh_terms: D000818:Animals; D014408:Biomarkers, Tumor / Q000235:genetics*; D002277:Carcinoma / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D019295:Computational Biology; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D015894:Genome, Human; D055106:Genome-Wide Association Study; D023281:Genomics / Q000379:methods*; D040941:Heredity; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010375:Pedigree; D010641:Phenotype; D057285:Precision Medicine; D011237:Predictive Value of Tests; D011379:Prognosis; D017422:Sequence Analysis, DNA
chemical_list: D014408:Biomarkers, Tumor