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Hereditary kidney cancer models for understanding the cancer genome (95.2)
Author(s) -
Spellman Paul
Publication year - 2014
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.28.1_supplement.95.2
Subject(s) - germline , penetrance , cancer , genetics , genome , biology , germline mutation , somatic cell , allele , cancer syndrome , kidney cancer , phenotype , mutation , cancer research , gene
Von Hippel‐Lindau syndrome manifests primarily as hereditary kidney cancer. The syndrome is caused by single loss of function alleles in the VHL tumor suppressor that act in an autosomal dominant pattern. Patients with the syndrome develop clear cell kidney cancers in which the wild‐type germline allele is mutated or lost. The penetrance of the phenotype is so severe that most patients develop multiple independent tumors because of the somatic mutations are distinct. My group in collaboration with Marston Linehan's group have sequenced the genomes of 43 tumors from seven individuals as well as matched normal DNA. I will present an analysis of mutation spectra in the samples and show patterns that suggest individual level biases in those spectra. Further, I will present analyses of the genomes that suggests guiding biases that have influenced the development of tumors guided by the host genome.