Research Paper

BMC Research Notes: A model-based circular binary segmentation algorithm for the analysis of array CGH data

October 10, 2011

Fang-Han Hsu, Hung-I H Chen, Mong-Hsun Tsai, Liang-Chuan Lai, Chi-Cheng Huang, Shih-Hsin Tu, Eric Y Chuang & Yidong Chen Abstract Background Circular Binary Segmentation (CBS) is a permutation-based algorithm for array Comparative Genomic Hybridization (aCGH) data analysis. CBS accurately segments data by detecting change-points using a maximal-t test, but an extensive computational burden is involved for evaluating the significance of change-points using permutations. […]


BMC Cancer: Activating mutation in MET oncogene in familial colorectal cancer

October 4, 2011

Deborah W Neklason 1, Michelle W Done, Nykole R Sargent, Ann G Schwartz, Hoda Anton-Culver, Constance A Griffin, Dennis J Ahnen, Joellen M Schildkraut, Gail E Tomlinson, Louise C Strong, Alexander R Miller, Jill E Stopfer, Randall W Burt Abstract Background: In developed countries, the lifetime risk of developing colorectal cancer (CRC) is 5%, and it is the second leading cause of death from cancer. The presence of family […]


Carcinogenesis: Candidate gene association analysis of acute lymphoblastic leukemia identifies new susceptibility locus at 11p15 (LMO1)

September 21, 2011

Joke Beuten 1, Jonathan A L Gelfond, Duangjai Piwkham, Brad H Pollock, Naomi J Winick, Anderson B Collier 3rd, Gail E Tomlinson Abstract To determine the contribution of susceptibility loci in explaining the genetic basis of acute lymphoblastic leukemia (ALL), we genotyped 29 high-potential candidate genes with 672 tagged single-nucleotide polymorphisms (SNPs) in a sample (163 cases and 251 healthy controls) of […]


Molecular & Cellular Biology: A Conditional Mouse Model for Measuring the Frequency of Homologous Recombination Events In Vivo in the Absence of Essential Genes

August 10, 2011

Adam D. Brown, Alison B. Claybon, Alexander J. R. Bishop ABSTRACT The ability to detect and repair DNA damage is crucial to the prevention of various diseases. The loss of function of genes involved in these processes is known to result in significant developmental defects and/or predisposition to cancer. One such DNA repair mechanism, homologous recombination, has […]


Cancer Epidemiology Biomarkers & Prevevention: Genetic variation in IGF2 and HTRA1 and breast cancer risk among BRCA1 and BRCA2 carriers

August 1, 2011

Susan L Neuhausen 1, Sean Brummel, Yuan Chun Ding, Linda Steele, Katherine L Nathanson, Susan Domchek, Timothy R Rebbeck, Christian F Singer, Georg Pfeiler, Henry T Lynch, Judy E Garber, Fergus Couch, Jeffrey N Weitzel, Andrew Godwin, Steven A Narod, Patricia A Ganz, Mary B Daly, Claudine Isaacs, Olufunmilayo I Olopade, Gail E Tomlinson, Wendy S Rubinstein, Nadine Tung, Joanne L Blum, Daniel L Gillen Abstract Background: BRCA1 and BRCA2 mutation carriers have a lifetime breast cancer risk of 40% […]


Cancer Research: Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes

July 28, 2011

Timothy R Rebbeck 1, Nandita Mitra, Susan M Domchek, Fei Wan, Tara M Friebel, Teo V Tran, Christian F Singer, Muy-Kheng Maria Tea, Joanne L Blum, Nadine Tung, Olufunmilayo I Olopade, Jeffrey N Weitzel, Henry T Lynch, Carrie L Snyder, Judy E Garber, Antonis C Antoniou, Susan Peock, D Gareth Evans, Joan Paterson, M John Kennedy, Alan Donaldson, Huw Dorkins, Douglas F Easton, Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE); Wendy S Rubinstein, Mary B Daly, Claudine Isaacs, Heli Nevanlinna, Fergus J […]


JAMA Network: Clinically relevant changes in family history of cancer over time

July 13, 2011

Argyrios Ziogas 1, Nora K Horick, Anita Y Kinney, Jan T Lowery, Susan M Domchek, Claudine Isaacs, Constance A Griffin, Patricia G Moorman, Karen L Edwards, Deirdre A Hill, Jonathan S Berg, Gail E Tomlinson, Hoda Anton-Culver, Louise C Strong, Carol H Kasten, Dianne M Finkelstein, Sharon E Plon Abstract Context: Knowledge of family cancer history is important for assessing cancer risk and guiding screening recommendations. Objective: To quantify how often throughout adulthood clinically […]


Cancer Epidemiology Biomarkers & Prevention: Polymorphisms in CYP1A1 and ethnic-specific susceptibility to acute lymphoblastic leukemia in children.

July 1, 2011

Ryan M Swinney 1, Joke Beuten, Anderson B Collier 3rd, Tina T-L Chen, Naomi J Winick, Brad H Pollock, Gail E Tomlinson Abstract Background: Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy. The U.S. Surveillance Epidemiology and End Results (SEER) registry reports that Hispanic children have the highest incidence of ALL, however, it is unclear if this is due to genetic […]


Pediatric Developmental Pathology: Activated NOTCH2 is overexpressed in hepatoblastomas: an immunohistochemical study

June 3, 2011

Jason B Litten 1, Tina T-L Chen, Roger Schultz, Karl Herman, Jessica Comstock, Joshua Schiffman, Gail E Tomlinson, Dinesh Rakheja Abstract Hepatoblastoma is a pediatric malignancy characterized by the uncontrolled proliferation of immature hepatocytes (hepatoblasts). This disease is diagnosed primarily in children younger than 5 years and is disproportionately observed in former premature infants. Cytogenetically, hepatoblastoma is characterized by numerical aberrations, as well […]


Cancer Epidemiology Biomarkers & Prevention: Multilocus association of genetic variants in MLL, CREBBP, EP300, and TOP2A with childhood acute lymphoblastic leukemia in Hispanics from Texas

June 1, 2011

Duangjai Piwkham 1, Jonathan A L Gelfond, Budsaba Rerkamnuaychoke, Samart Pakakasama, Vivienne I Rebel, Brad H Pollock, Naomi J Winick, Anderson B Collier 3rd, Gail E Tomlinson, Joke Beuten Abstract Background: Hispanic children have both a higher incidence and a poorer outcome in acute lymphoblastic leukemia (ALL). Moreover, a higher incidence for therapy-related acute myeloid leukemia with 11q23 translocations after treatment with topoisomerase II (topo II) […]