Research Topics
Genomes and Genes
| Alison P KleinSummaryAffiliation: Johns Hopkins University Country: USA Publications
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Detail Information
Publications
Incorporating tumor immunohistochemical markers in BRCA1 and BRCA2 carrier predictionYu Chuan Tai
Breast Cancer Res 10:401. 2008- Identifying people at a high risk of developing pancreatic cancerAlison P Klein
Department of Oncology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins School of Medicine, Baltimore, Maryland 21231, USA
Nat Rev Cancer 13:66-74. 2013.... - Identification of functional genetic variation in exome sequence analysisAndrew Jaffe
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615 N Wolfe Street, Baltimore, MD 21205, USA
BMC Proc 5:S13. 2011..Analysis was conducted without knowledge of the simulation model. Agreement between programs was modest ranging from 59.4% to 71.4% and only 3.5% of variants were classified as deleterious and 10.9% as tolerated across all four programs... - Linkage analysis of chromosome 4 in families with familial pancreatic cancerAlison P Klein
The Sol Goldman Pancreatic Research Center, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, Maryland 21231, USA
Cancer Biol Ther 6:320-3. 2007.... - Heritability analysis of spherical equivalent, axial length, corneal curvature, and anterior chamber depth in the Beaver Dam Eye StudyAlison P Klein
Sidney Kimmel Comprehensive Cancer Center, School of Medicine, Johns Hopkins University, Baltimore, MD 21231, USA
Arch Ophthalmol 127:649-55. 2009..However, the measured phenotype of spherical equivalent is in large part dictated by the relationship between the underlying optical components of axial length, corneal curvature, and anterior chamber depth... - Investigation of altering single-nucleotide polymorphism density on the power to detect trait loci and frequency of false positive in nonparametric linkage analyses of qualitative traitsAlison P Klein
Inherited Disease Research Branch, NHGRI NIH, Baltimore, MD, USA
BMC Genet 6:S20. 2005..The presence of LD between markers may have led to an increased number of false positive regions but no clear relationship between regions of high LD and locations of false positive linkage signals was observed... - Linkage analysis of quantitative refraction and refractive errors in the Beaver Dam Eye StudyAlison P Klein
Department of Oncology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
Invest Ophthalmol Vis Sci 52:5220-5. 2011.... - Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility geneSian Jones
Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA
Science 324:217. 2009..These results illustrate that complete, unbiased sequencing of protein-coding genes can lead to the identification of a gene responsible for a hereditary disease... - Absence of deleterious palladin mutations in patients with familial pancreatic cancerAlison P Klein
Department of Pathology, The John Hopkins University School of Medicine, Baltimore, MD, USA
Cancer Epidemiol Biomarkers Prev 18:1328-30. 2009..We sequenced the coding regions of PALLD in 48 individuals with familial pancreatic cancer. We did not find any deleterious mutations and find no evidence to implicate mutations in PALLD as a cause of familial pancreatic cancer... 
Confirmation of linkage to ocular refraction on chromosome 22q and identification of a novel linkage region on 1qAlison P Klein
Departments of Oncology and Pathology, Johns Hopkins School of Medicine, Baltimore, MD 21231, USA
Arch Ophthalmol 125:80-5. 2007....- Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathwaysJian Wu
Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Proc Natl Acad Sci U S A 108:21188-93. 2011..These results highlight the essential role of ubiquitin ligases in these neoplasms and have important implications for the diagnosis and treatment of patients with cystic tumors... - Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye StudyPriya Duggal
Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA
Arch Ophthalmol 125:74-9. 2007..To identify genetic loci that control intraocular pressure (IOP)... - Elevated cancer mortality in the relatives of patients with pancreatic cancerLi Wang
1Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland 21231, USA
Cancer Epidemiol Biomarkers Prev 18:2829-34. 2009..Our results show that relatives of pancreatic cancer patients are at higher risk of developing cancers at other sites and highlight the importance of complete family history in clinical risk assessment... - Frequent detection of pancreatic lesions in asymptomatic high-risk individualsMarcia Irene Canto
Department of Medicine Division of Gastroenterology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland 21205, USA
Gastroenterology 142:796-804; quiz e14-5. 2012..We determined the baseline prevalence and characteristics of pancreatic abnormalities using 3 imaging tests to screen asymptomatic, high-risk individuals (HRIs)... - Importance of age of onset in pancreatic cancer kindredsKieran A Brune
Department of Pathology, Sol Goldman Pancreatic Cancer Research Center at Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, MD 21231, USA
J Natl Cancer Inst 102:119-26. 2010..Young-onset cancer is a hallmark of many familial cancer syndromes, yet the implications of young-onset disease in predicting risk of pancreatic cancer among familial pancreatic cancer (FPC) kindred members remain unclear... - Polygenic effects and cigarette smoking account for a portion of the familial aggregation of nuclear sclerosisAlison P Klein
Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, Baltimore, MD, USA
Am J Epidemiol 161:707-13. 2005..Cigarette smoking was an important covariate in these analyses. Overall, results highlight the complex etiology of nuclear sclerosis... - PancPRO: risk assessment for individuals with a family history of pancreatic cancerWenyi Wang
Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins School of Medicine, Baltimore, MD, USA
J Clin Oncol 25:1417-22. 2007..The goal of this study was to develop and validate PancPRO, a Mendelian model for pancreatic cancer risk prediction in individuals with familial pancreatic cancer, to identify high-risk individuals... - SMAD4 gene mutations are associated with poor prognosis in pancreatic cancerAmanda Blackford
Department of Oncology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
Clin Cancer Res 15:4674-9. 2009..Recently, the majority of protein coding genes were sequenced in a collection of pancreatic cancers, providing an unprecedented opportunity to identify genetic markers of prognosis for patients with adenocarcinoma of the pancreas... - DPC4 gene status of the primary carcinoma correlates with patterns of failure in patients with pancreatic cancerChristine A Iacobuzio-Donahue
Department of Pathology, Surgery, and Oncology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA
J Clin Oncol 27:1806-13. 2009..A comprehensive study of pancreatic cancers from patients who have succumbed to their disease has the potential to greatly expand our understanding of the most lethal stage of this disease and identify novel areas for intervention... 
ATM mutations in patients with hereditary pancreatic cancerNicholas J Roberts
Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland, USA
Cancer Discov 2:41-6. 2012..Our results have important implications for the management of patients in affected families and illustrate the power of genome-wide sequencing to identify the basis of familial cancer syndromes...- Genome-wide somatic copy number alterations in low-grade PanINs and IPMNs from individuals with a family history of pancreatic cancerSeung Mo Hong
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD, USA
Clin Cancer Res 18:4303-12. 2012..Characterizing the earliest chromosomal alterations of pancreatic precursor neoplasms from individuals with a familial aggregation of pancreatic cancer may provide clues as to the loci of pancreatic cancer susceptibility genes... - Tumor COX-2 expression and prognosis of patients with resectable pancreatic cancerHiroyuki Matsubayashi
Department of Pathology, The Sol Goldman Pancreatic Research Center, The Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
Cancer Biol Ther 6:1569-75. 2007..We evaluated the prognostic significance of COX-2 expression in pancreatic adenocarcinomas... - Familial pancreatic cancer: from genes to improved patient careRalph H Hruban
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins Hospital, Weinberg Building 2242, 401 North Broadway, Baltimore, MD 21231, USA
Expert Rev Gastroenterol Hepatol 1:81-8. 2007..This review focuses on the genetic basis for the familial aggregation of pancreatic cancer, with emphasis placed on the implications of the genetic alterations on clinical patient care... - Identification of tag single-nucleotide polymorphisms in regions with varying linkage disequilibriumPriya Duggal
Inherited Disease Research Branch, NHGRI NIH, Baltimore, MD, USA
BMC Genet 6:S73. 2005..In addition, we compared the selected SNPs in a multipoint linkage analysis for one region with strong LD. As the number of selected SNPs increased, the LOD score, mean information content, and type I error also increased... - Genetic and epigenetic alterations of familial pancreatic cancersKieran Brune
Department of Pathology, Medicine, Oncology, Johns Hopkins Medical Institutions, The Sol Goldman Pancreatic Cancer Research Center, 1550 Orleans Street, CRB2, Room 342, Baltimore, MD 21231, USA
Cancer Epidemiol Biomarkers Prev 17:3536-42. 2008..The aim of this study was to compare the prevalence of common genetic and epigenetic alterations in sporadic and familial pancreatic ductal adenocarcinomas... - Absence of germline BRCA1 mutations in familial pancreatic cancer patientsJennifer E Axilbund
Department of Oncology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University, Baltimore, Maryland, USA
Cancer Biol Ther 8:131-5. 2009.... - Support for polygenic influences on ocular refractive errorAlison P Klein
Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, Baltimore, Maryland, USA
Invest Ophthalmol Vis Sci 46:442-6. 2005..CONCLUSIONS: These results support the involvement of genetic factors in the etiology of refractive error and are consistent with reports of linkage to multiple regions of the genome... - A genetic contribution to intraocular pressure: the beaver dam eye studyPriya Duggal
Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA
Invest Ophthalmol Vis Sci 46:555-60. 2005..The pilot linkage study further confirms the heterogeneity of IOP with the identification of two novel genetic loci... - Prognosis of minimally invasive carcinoma arising in mucinous cystic neoplasms of the pancreasGloria H Lewis
Departments of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA
Am J Surg Pathol 37:601-5. 2013..Our study demonstrates that the majority of patients with minimally invasive adenocarcinoma arising in MCNs are cured by surgery, particularly if the neoplasms are completely examined histologically... - Expression of Yes-associated protein modulates Survivin expression in primary liver malignanciesHaibo Bai
Department of Pathology, Howard Hughes Medical Institute Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Hum Pathol 43:1376-85. 2012..Our findings suggested that Yes-associated protein contributes to primary liver tumorigenesis and likely mediates its oncogenic effects through modulating Survivin expression... - Serotonin expression in pancreatic neuroendocrine tumors correlates with a trabecular histologic pattern and large duct involvementChad M McCall
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA
Hum Pathol 43:1169-76. 2012..Serotonin-expressing tumors are also less likely to have lymph node metastases and more likely to involve large pancreatic ducts... - Analysis of polymorphisms and haplotype structure of the human thymidylate synthase genetic region: a tool for pharmacogenetic studiesSoma Ghosh
Department of Oncology, Johns Hopkins School of Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America
PLoS ONE 7:e34426. 2012..The presence of multiple long (up to 26 nt), polymorphic monothymidine repeats in the promoter region of the sole human thymidylate synthetic enzyme is intriguing... - Genetic susceptibility to pancreatic cancerAlison P Klein
Department of Oncology and Pathology, Sol Goldman Pancreatic Cancer Research Center, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA
Mol Carcinog 51:14-24. 2012..This review addresses our current understanding of the familial aggregation of pancreatic cancer, established pancreatic cancer susceptablity genes and how this knowledge informs risk assessment and screening for high-risk families... - Altered telomeres in tumors with ATRX and DAXX mutationsChristopher M Heaphy
Department of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA
Science 333:425. 2011..ATRX mutations also correlate with abnormal telomeres in tumors of the central nervous system. These data suggest that an alternative telomere maintenance function may operate in human tumors with alterations in the ATRX or DAXX genes... - Core signaling pathways in human pancreatic cancers revealed by global genomic analysesSian Jones
Sol Goldman Pancreatic Cancer Research Center, Ludwig Center and Howard Hughes Medical Institute at the Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Science 321:1801-6. 2008..Dysregulation of these core pathways and processes through mutation can explain the major features of pancreatic tumorigenesis... - Prospective risk of pancreatic cancer in familial pancreatic cancer kindredsAlison P Klein
Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, NIH, Baltimore, Maryland, USA
Cancer Res 64:2634-8. 2004..Risk was higher in smokers than in nonsmokers. Individuals with a strong family history of pancreatic cancer have a significantly increased risk of developing pancreatic cancer... - Multifocal neoplastic precursor lesions associated with lobular atrophy of the pancreas in patients having a strong family history of pancreatic cancerKieran Brune
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA
Am J Surg Pathol 30:1067-76. 2006..The multifocal nature of familial pancreatic neoplasia suggests that surveillance of these patients is warranted after partial pancreatectomy... - Palladin is overexpressed in the non-neoplastic stroma of infiltrating ductal adenocarcinomas of the pancreas, but is only rarely overexpressed in neoplastic cellsSafia N Salaria
The Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21231 2410, USA
Cancer Biol Ther 6:324-8. 2007..This hypothesis was based on reverse transcriptase-polymerase chain reaction analyses of bulk pancreatic tissue, yet pancreatic cancer is a complex admixture of neoplastic epithelial cells and desmoplastic stroma... - Clinical significance of the genetic landscape of pancreatic cancer and implications for identification of potential long-term survivorsShinichi Yachida
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
Clin Cancer Res 18:6339-47. 2012..Genetic alterations of KRAS, CDKN2A, TP53, and SMAD4 are the most frequent events in pancreatic cancer. We determined the extent to which these 4 alterations are coexistent in the same carcinoma, and their impact on patient outcome... - Evidence for a major gene influencing risk of pancreatic cancerAlison P Klein
Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA
Genet Epidemiol 23:133-49. 2002..This hospital-based segregation analysis of pancreatic cancer found evidence supporting the role of a rare major gene influencing risk of pancreatic cancer... - Expression of Yes-associated protein in common solid tumorsAngela A Steinhardt
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA
Hum Pathol 39:1582-9. 2008.... - Peritumoral fibroblast SPARC expression and patient outcome with resectable pancreatic adenocarcinomaJeffrey R Infante
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins Medical Institutions, Baltimore, MD 21205, USA
J Clin Oncol 25:319-25. 2007..We evaluated the prognostic significance of tumor and peritumoral SPARC expression in patients with pancreatic adenocarcinoma... - Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst developmentJian Wu
Ludwig Center for Cancer Genetics and Howard Hughes Medical Institutions, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
Sci Transl Med 3:92ra66. 2011..In addition to defining a new pathway for pancreatic neoplasia, these data suggest that GNAS mutations can inform the diagnosis and management of patients with cystic pancreatic lesions... - Familial pancreatic cancerChanjuan Shi
Department of Oncology, The Johns Hopkins School of Medicine, Baltimore, MD 21212, USA
Arch Pathol Lab Med 133:365-74. 2009..The known genes associated with these conditions can explain only a portion of the clustering of pancreatic cancer in families, and research to identify additional susceptibility genes is ongoing... - Colocalization of inflammatory response with B7-h1 expression in human melanocytic lesions supports an adaptive resistance mechanism of immune escapeJanis M Taube
Department of Dermatology, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA
Sci Transl Med 4:127ra37. 2012..These observations suggest that therapies that block this pathway may benefit patients with B7-H1(+) tumors... - Evaluation of random forests performance for genome-wide association studies in the presence of interaction effectsYoonhee Kim
National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive, Baltimore, MD 21224, USA
BMC Proc 3:S64. 2009.... - Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discoveryAik Choon Tan
The Institute for Computational Medicine, Johns Hopkins University, Baltimore, Maryland, USA
Cancer Biol Ther 7:135-44. 2008.... - Importance sampling method of correction for multiple testing in affected sib-pair linkage analysisAlison P Klein
Inherited Disease Research Branch, NHGRI, NIH, Baltimore, Maryland, USA
BMC Genet 4:S73. 2003..The ability of these methods to detect trait loci was also low. However, this may be partially due to a limitation inherent in our binary trait definitions... - Pancreatic cancer and factors associated with the insulin resistance syndrome in the Korean cancer prevention studyAmy Berrington de Gonzalez
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA
Cancer Epidemiol Biomarkers Prev 17:359-64. 2008..The association with elevated liver enzyme levels is a novel finding that warrants further investigation... - ABO blood group and other genetic variants associated with pancreatic cancerAnne Marie Lennon
Department of Medicine, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, MD 21205 2196, USA
Genome Med 2:39. 2010..1... - Copy-number variants in patients with a strong family history of pancreatic cancerRobert Lucito
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
Cancer Biol Ther 6:1592-9. 2007..Selected deletions and amplifications were confirmed using real-time PCR, including a germ-line amplification on chromosome 19. These genetic copy-number variants define potential candidate loci for the familial pancreatic cancer gene... - The GLC1H glaucoma locus may reflect glaucoma with elevated intraocular pressurePriya Duggal
Arch Ophthalmol 125:1716-7; author reply 1717. 2007 - GeneLink: a database to facilitate genetic studies of complex traitsElizabeth M Gillanders
Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 8000, USA
BMC Genomics 5:81. 2004..To minimize the difficulties inherent in complex trait studies, we have developed GeneLink, a Web-accessible, password-protected Sybase database... - Pancreatic cancer genetic epidemiology consortiumGloria M Petersen
Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Cancer Epidemiol Biomarkers Prev 15:704-10. 2006..Linkage studies are ongoing. The PACGENE Consortium will be a valuable family-based resource that will greatly enhance genetic epidemiology research in pancreatic cancer... - Overview of linkage analysis: application to pancreatic cancerAlison P Klein
Statistical Genetics Section, National Human Genome Research Institute, National Institute of Health, USA
Methods Mol Med 103:329-41. 2005..This chapter focuses on the basics of linkage analysis for qualitative traits (affected/unaffected) as could be applied to the study of pancreatic cancer...