Affiliation: University of Pennsylvania
- A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibilityPeter A Kanetsky
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Hum Mol Genet 20:3109-17. 2011..Our findings continue to corroborate that genes influencing male germ cell development and differentiation have emerged as the major players in inherited TGCT susceptibility...
- Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumoursNelly Sabbaghian
Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada
BMC Res Notes 6:127. 2013..To further explore the importance of DICER1 mutations in the etiology of testicular germ cell tumors (TGCT), we studied germ-line DNA samples from 43 probands diagnosed with familial TGCT...
- Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studiesSara Raimondi
Division of Epidemiology and Biostatistics, European Institute of Oncology, Via Ramusio 1, Milan, 20141, Italy
BMC Med Res Methodol 12:116. 2012..Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia...
- Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?Peter A Kanetsky
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
Cancer 116:2416-28. 2010..A study was carried out to describe associations of MC1R variants and melanoma in a US population and to investigate whether genetic risk is modified by pigmentation characteristics and sun exposure measures...
- Population differences in the frequency of the agouti signaling protein g.8818a>G polymorphismCharnita Zeigler-Johnson
Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania, Philadelphia, PA 19104 6021, USA
Pigment Cell Res 17:185-7. 2004....
- Development of a novel location-based assessment of sensory symptoms in cancer patients: preliminary reliability and validity assessmentAdam R Burkey
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA
J Pain Symptom Manage 37:848-62. 2009....
- A polymorphism in the agouti signaling protein gene is associated with human pigmentationPeter A Kanetsky
Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 6021, USA
Am J Hum Genet 70:770-5. 2002..This is the first report of an association of ASIP with specific human pigmentation characteristics. It remains to be investigated whether the interaction of MC1R and ASIP can enhance prediction of human pigmentation and melanoma risk...
- Population-based study of natural variation in the melanocortin-1 receptor gene and melanomaPeter A Kanetsky
Department of Biostatistics and Epidemiology and Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6021, USA
Cancer Res 66:9330-7. 2006....
- The Y deletion gr/gr and susceptibility to testicular germ cell tumorKatherine L Nathanson
Department of Medicine, Abramson Family Cancer Research Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
Am J Hum Genet 77:1034-43. 2005..0; 95% CI 1.6-5.4; P = .0004) than with nonseminoma TGCT (aOR 1.5; 95% CI 0.72-3.0; P = .29). These data indicate that the Y microdeletion gr/gr is a rare, low-penetrance allele that confers susceptibility to TGCT...
- Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approachPeter A Kanetsky
Department of Biostatistics and Epidemiology, Division of Hematology Oncology, Center for Clinical Epidemiology and Biostatistics and Epidemiology, University of Pennsylvania, 903 Blockley Hall, Philadelphia, PA 19104 6021
Cancer Epidemiol Biomarkers Prev 13:808-19. 2004..S. Caucasians. Risk variants defined by either the published literature or by evolutionary criteria are strongly and significantly associated with all fair pigmentation phenotypes that were measured...
- P gene as an inherited biomarker of human eye colorTimothy R Rebbeck
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Cancer Epidemiol Biomarkers Prev 11:782-4. 2002..001), or the combination of both variants (P = 0.003). These results suggest that P gene, in part, determines normal phenotypic variation in human eye color and may therefore represent an inherited biomarker of cutaneous cancer risk...
- Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancerPeter A Kanetsky
Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Nat Genet 41:811-5. 2009..All of the genotypes were associated with both seminoma and nonseminoma TGCT subtypes. These results demonstrate that common genetic variants affect TGCT risk and implicate KITLG and SPRY4 as genes involved in TGCT susceptibility...
- Allelic variants in HOX genes in cryptorchidismYanping Wang
Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Birth Defects Res A Clin Mol Teratol 79:269-75. 2007..Findings from animal models and small clinical studies suggest that the posterior HOX genes (paralogs 9-13) could be potential candidate genes for cryptorchidism and that the HOX genes are functionally redundant within paralogous groups...
- Collapse of the CD27+ B-cell compartment associated with systemic plasmacytosis in patients with advanced melanoma and other cancersErica L Carpenter
Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Clin Cancer Res 15:4277-87. 2009..This study aimed to investigate whether B-cell physiology was altered in the presence of melanoma and other cancers...
- p16 expression in keratoacanthomas and squamous cell carcinomas of the skin: an immunohistochemical studyEmad Kaabipour
Department of Pathology, Pennsylvania Hospital, Philadelphia, PA 19107, USA
Arch Pathol Lab Med 130:69-73. 2006..Distinguishing between keratoacanthoma (KA) and squamous cell carcinoma (SCC) is not an uncommon histologic diagnostic dilemma...