Annals of Human Genetics: Power of Genetic Association Studies with Fixed and Random Genotype Frequencies

August 15, 2010

Julia Kozlitina Chao Xing Alexander Pertsemlidis William R. Schucany Summary When estimating the power of genetic association studies, the allele and genotype frequencies are often assumed to be known, and the numbers of individuals with each genotype are set equal to their expectations under Hardy‐Weinberg equilibrium. In fact, both allele and genotype frequencies are unknown […]

Nucleic Acids Research: PARP1 suppresses homologous recombination events in mice “in vivo”

July 21, 2010

Alison Claybon, Bijal Karia, Crystal Bruce, Alexander J. R. Bishop Abstract Recent studies suggest that PARP1 inhibitors, several of which are currently in a clinical trial, may selectively kill BRCA1/2 mutant cancer cells. It is thought that the success of this therapy is based on immitigable lethal DNA damage in the cancer cells resultant from the concurrent loss […]

Oncogene: MicroRNA-185 suppresses tumor growth and progression by targeting the Six1 oncogene in human cancers

July 5, 2010

J S Imam, K Buddavarapu, J S Lee-Chang, S Ganapathy, C Camosy, Y Chen & M K Rao Abstract Homeobox genes encode transcription factors that are essential for normal development and are often dysregulated in cancers. The molecular mechanisms that cause their misregulation in cancers are largely unknown. In this study, we investigate the mechanism by which the Six1 homeobox protein, which […]

BMC: MicroRNA expression distinguishes SCLC from NSCLC lung tumor cells and suggests a possible pathological relationship between SCLCs and NSCLCs

June 17, 2010

Liqin Du, Jeoffrey J Schageman, Irnov, Luc Girard, Scott M Hammond, John D Minna, Adi F Gazdar & Alexander Pertsemlidis Abstract Background Recent studies have shown that microRNAs (miRNAs) play roles in tumorigenesis and are reliable classifiers of certain cancer types and subtypes. However, the role of miRNAs in the pathogenesis and diagnosis of small cell […]

BMC Systems Biology: Building and analyzing protein interactome networks by cross-species comparisons

March 30, 2010

Amy M Wiles, Mark Doderer, Jianhua Ruan, Ting-Ting Gu, Dashnamoorthy Ravi, Barron Blackman & Alexander JR Bishop Abstract Background A genomic catalog of protein-protein interactions is a rich source of information, particularly for exploring the relationships between proteins. Numerous systems-wide and small-scale experiments have been conducted to identify interactions; however, our knowledge of all interactions for any one species is incomplete, and […]

Breast Cancer Research Treatment: Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers

February 24, 2010

Susan M Domchek 1, Tara M Friebel, Judy E Garber, Claudine Isaacs, Ellen Matloff, Rosalind Eeles, D Gareth Evans, Wendy Rubinstein, Christian F Singer, Stephen Rubin, Henry T Lynch, Mary B Daly, Jeffrey Weitzel, Patricia A Ganz, Gabriella Pichert, Olufunmilayo I Olopade, Gail Tomlinson, Nadine Tung, Joanne L Blum, Fergus Couch, Timothy R Rebbeck Abstract Risk-reducing salpingo-oophorectomy (RRSO) is widely used for cancer risk reduction in BRCA1 or BRCA2 (BRCA1/2) mutation carriers. Occult ovarian/fallopian tube cancers […]

Pediatric Blood & Cancer: Establishment and characterization of a cancer cell line derived from an aggressive childhood liver tumor

December 1, 2009

Tina T-L Chen 1, Dinesh Rakheja, Jaclyn Y Hung, Peter J Hornsby, Piotr Tabaczewski, Marcio Malogolowkin, James Feusner, Frank Miskevich, Roger Schultz, Gail E Tomlinson Abstract Background: Hepatoblastoma is a rare malignancy of childhood. The scarcity of adequate cell models has limited our understanding of this tumor. Here we describe and characterize a new human liver tumor cell line, Hep293TT, derived from an aggressive childhood hepatoblastoma. […]

Breast Cancer Research Treatment: Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

November 18, 2009

Amanda B Spurdle 1, Paul Fahey, Xiaoqing Chen, Lesley McGuffog, kConFab; Douglas Easton, Susan Peock, Margaret Cook, EMBRACE; Jacques Simard, INHERIT; Tim R Rebbeck, MAGIC; Antonis C Antoniou, Georgia Chenevix-Trench Abstract The GSTP1, GSTM1, and GSTT1 detoxification genes all have functional polymorphisms that are common in the general population. A single study of 320 BRCA1/2 carriers previously assessed their effect in BRCA1 or BRCA2 mutation carriers. This study showed no […]

BMC Research: Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers

October 20, 2009

Susan L Neuhausen 1, Sean Brummel, Yuan Chun Ding, Christian F Singer, Georg Pfeiler, Henry T Lynch, Katherine L Nathanson, Timothy R Rebbeck, Judy E Garber, Fergus Couch, Jeffrey Weitzel, Steven A Narod, Patricia A Ganz, Mary B Daly, Andrew K Godwin, Claudine Isaacs, Olufunmilayo I Olopade, Gail Tomlinson, Wendy S Rubinstein, Nadine Tung, Joanne L Blum, Daniel L Gillen Abstract Introduction: Women who carry mutations in BRCA1 and BRCA2 have a substantially increased risk of developing breast […]

PLOS Genetics: A Network of Conserved Damage Survival Pathways Revealed by a Genomic RNAi Screen

October 19, 2009

Dashnamoorthy Ravi, Amy M. Wiles, Selvaraj Bhavani, Jianhua Ruan, Philip Leder, Alexander J. R. Bishop  Abstract Damage initiates a pleiotropic cellular response aimed at cellular survival when appropriate. To identify genes required for damage survival, we used a cell-based RNAi screen against the Drosophila genome and the alkylating agent methyl methanesulphonate (MMS). Similar studies performed in other model organisms report […]