Katherine Nathanson

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. pmc Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours
    Nelly Sabbaghian
    Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, QC, Canada
    BMC Res Notes 6:127. 2013
  2. pmc Comprehensive characterization of the DNA amplification at 13q34 in human breast cancer reveals TFDP1 and CUL4A as likely candidate target genes
    Lorenzo Melchor
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Center CNIO, Madrid, E 28029, Spain
    Breast Cancer Res 11:R86. 2009
  3. pmc Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers
    Susan L Neuhausen
    Department of Epidemiology, University of California Irvine, 224 Irvine Hall, Irvine, CA 92697, USA
    Breast Cancer Res 11:R76. 2009
  4. pmc Using genetics and genomics strategies to personalize therapy for cancer: focus on melanoma
    Katherine L Nathanson
    351 BRB 2 3, University of Pennsylvania School of Medicine, 421 Curie Blvd, Philadelphia, PA 19104, United States
    Biochem Pharmacol 80:755-61. 2010
  5. pmc The Y deletion gr/gr and susceptibility to testicular germ cell tumor
    Katherine 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
  6. doi request reprint Diagnosis of adult hereditary pulmonary disease and the role of genetic testing
    Parina Shah
    Hospital of the University of Pennsylvania, 3400 Spruce St, 100 Centrex, Philadelphia, PA 19104, USA
    Chest 137:976-82. 2010
  7. pmc Biallelic TSC gene inactivation in tuberous sclerosis complex
    Peter B Crino
    Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Neurology 74:1716-23. 2010
  8. doi request reprint Therapeutic approaches for women predisposed to breast cancer
    Katherine L Nathanson
    Department of Medicine and Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Annu Rev Med 62:295-306. 2011
  9. pmc Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers
    Timothy R Rebbeck
    Abramson Cancer Center, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
    Cancer Res 69:5801-10. 2009
  10. ncbi request reprint BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic
    Helen A Shih
    Abramson Family Cancer Research Institute and Department of Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    J Clin Oncol 20:994-9. 2002

Research Grants

  1. IDENTIFYING MODIFYING GENES IN BRCA1 MUTATION CARRIERS
    Katherine Nathanson; Fiscal Year: 2005
  2. Using array CGH to identify prostate cancer genes
    Katherine Nathanson; Fiscal Year: 2005

Detail Information

Publications37

  1. pmc Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours
    Nelly 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...
  2. pmc Comprehensive characterization of the DNA amplification at 13q34 in human breast cancer reveals TFDP1 and CUL4A as likely candidate target genes
    Lorenzo Melchor
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Research Center CNIO, Madrid, E 28029, Spain
    Breast Cancer Res 11:R86. 2009
    ..These genomic aberrations may drive carcinogenesis through the upregulation of proto-oncogenes. We have characterized DNA amplification at the human chromosomal region 13q34 in breast cancer...
  3. pmc Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers
    Susan L Neuhausen
    Department of Epidemiology, University of California Irvine, 224 Irvine Hall, Irvine, CA 92697, USA
    Breast Cancer Res 11:R76. 2009
    ..In this study, we investigate the association of variants in genes involved in IGF signaling and risk of breast cancer in women who carry deleterious BRCA1 and BRCA2 mutations...
  4. pmc Using genetics and genomics strategies to personalize therapy for cancer: focus on melanoma
    Katherine L Nathanson
    351 BRB 2 3, University of Pennsylvania School of Medicine, 421 Curie Blvd, Philadelphia, PA 19104, United States
    Biochem Pharmacol 80:755-61. 2010
    ..However in the future, personalized medicine will use a combination of inherited and somatic genetics to select the optimal tailored therapy for each patient...
  5. pmc The Y deletion gr/gr and susceptibility to testicular germ cell tumor
    Katherine 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...
  6. doi request reprint Diagnosis of adult hereditary pulmonary disease and the role of genetic testing
    Parina Shah
    Hospital of the University of Pennsylvania, 3400 Spruce St, 100 Centrex, Philadelphia, PA 19104, USA
    Chest 137:976-82. 2010
    ..This article describes diagnosis of rare hereditary pulmonary disease in adults and the role of genetic testing. A summary on coding and reimbursement is included...
  7. pmc Biallelic TSC gene inactivation in tuberous sclerosis complex
    Peter B Crino
    Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Neurology 74:1716-23. 2010
    ..Loss of TSC1 or TSC2 in vitro and in vivo leads to mTORC1 cascade activation and ribosomal protein S6 phosphorylation (P-S6). Giant cells (GCs) in tubers exhibit S6 phosphorylation, suggesting cell-specific loss of TSC gene function...
  8. doi request reprint Therapeutic approaches for women predisposed to breast cancer
    Katherine L Nathanson
    Department of Medicine and Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Annu Rev Med 62:295-306. 2011
    ..PARP inhibitors represent a novel therapeutic strategy that exploits the weaknesses of BRCA1/2-associated malignancies...
  9. pmc Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers
    Timothy R Rebbeck
    Abramson Cancer Center, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
    Cancer Res 69:5801-10. 2009
    ..026). Variants in genes that interact biologically withBRCA1 and/or BRCA2 may be associated with modified ovarian cancer risk in women who carry BRCA1/2 mutations...
  10. ncbi request reprint BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic
    Helen A Shih
    Abramson Family Cancer Research Institute and Department of Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    J Clin Oncol 20:994-9. 2002
    ..To determine the prevalence of BRCA1 and BRCA2 mutations in families identified in a breast cancer risk evaluation clinic...
  11. ncbi request reprint The tuberous sclerosis complex
    Peter B Crino
    Department of Neurology, University of Pennsylvania Medical Center, Philadelphia 19104, USA
    N Engl J Med 355:1345-56. 2006
  12. ncbi request reprint Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic
    Gabriel A Brooks
    School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Cancer Biol Ther 5:1098-102. 2006
    ..Biallelic mutations of BRCA2 are a cause of Fanconi anemia and characteristic childhood cancers. We undertook this study to evaluate the contribution of familial BRCA mutations to childhood cancer in hereditary breast cancer families...
  13. ncbi request reprint Somatic genetic changes in association with testicular germ cell tumor prognosis
    Katherine L Nathanson
    Division of Medical Genetics, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Cancer Biol Ther 3:1159-61. 2004
  14. pmc The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families
    Maurizia Dalla Palma
    Division of Medical Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Cancer Res 68:7006-14. 2008
    ..Whereas these findings should be confirmed in larger sample sets, our data suggest that genomic rearrangement testing be considered in all non-Ashkenazi Jewish women with an estimated mutation prevalence >or=10%...
  15. ncbi request reprint CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5q
    Katherine L Nathanson
    Department of Medicine, Abramson Family Cancer Research Institute, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Hum Mol Genet 11:1327-32. 2002
    ..The approach described here may be utilized to identify penetrance modifiers in other autosomal dominant syndromes...
  16. pmc Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas
    Keiran S M Smalley
    The Wistar Institute, 3601 Spruce Street, Philadelphia, PA 19104, USA
    Mol Cancer Ther 7:2876-83. 2008
    ....
  17. pmc Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer
    Peter 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...
  18. doi request reprint The mitogen-activated protein/extracellular signal-regulated kinase kinase inhibitor AZD6244 (ARRY-142886) induces growth arrest in melanoma cells and tumor regression when combined with docetaxel
    Nikolas K Haass
    The Wistar Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Clin Cancer Res 14:230-9. 2008
    ..This study addresses the anti-melanoma activity of the MEK inhibitor AZD6244 (ARRY-142886)...
  19. pmc Active Notch1 confers a transformed phenotype to primary human melanocytes
    Chelsea C Pinnix
    Wistar Institute, Philadelphia, PA 19104, USA
    Cancer Res 69:5312-20. 2009
    ..This new information yields valuable insight into the basic epidemiology of melanoma and launches a realm of possibilities for drug intervention in this deadly disease...
  20. ncbi request reprint Pheochromocytoma: the expanding genetic differential diagnosis
    Jennifer Bryant
    Division of Medical Genetics, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia 19104, USA
    J Natl Cancer Inst 95:1196-204. 2003
    ....
  21. pmc Identification of a novel subgroup of melanomas with KIT/cyclin-dependent kinase-4 overexpression
    Keiran S M Smalley
    The Wistar Institute, 3601 Spruce Street, Philadelphia, PA 19104, USA
    Cancer Res 68:5743-52. 2008
    ..This group of melanomas may be a subpopulation for which imatinib or other KIT inhibitors may constitute optimal therapy...
  22. pmc Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility
    Mieke Schutte
    Department of Medical Oncology, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Hum Genet 72:1023-8. 2003
    ..These results indicate that 1100delC may be the only CHEK2 allele that makes an appreciable contribution to breast cancer susceptibility...
  23. ncbi request reprint Genome-wide linkage screen for testicular germ cell tumour susceptibility loci
    Gillian P Crockford
    Genetic Epidemiology Division, Cancer Research UK Clinical Centre, St James s University Hospital, Leeds, UK
    Hum Mol Genet 15:443-51. 2006
    ..Overall, the results indicate that no single major locus can account for the majority of the familial aggregation of TGCT, and suggests that multiple susceptibility loci with weak effects contribute to the disease...
  24. ncbi request reprint Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
    Hanne Meijers-Heijboer
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Nat Genet 31:55-9. 2002
    ....
  25. pmc Resolving ATM haplotypes in whites
    Richard Letrero
    Am J Hum Genet 72:1071-3. 2003
  26. ncbi request reprint Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program
    Marcia S Brose
    Department of Medicine and Abramson Family Cancer Research Institute, University of Pennsylvania Cancer Center, Philadelphia 19104, USA
    J Natl Cancer Inst 94:1365-72. 2002
    ..The purpose of this study was to estimate BRCA1-related cancer risks for individuals ascertained in a breast cancer risk evaluation clinic...
  27. ncbi request reprint The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma
    Mary Alice Abbott
    Division of Human Genetics, University of Connecticut Health Center, Farmington, Connecticut 06119, USA
    Am J Med Genet A 140:685-90. 2006
    ..This series of eight patients strengthens the correlation between the V84L mutation and the VHL type 2C phenotype, and improves our ability to provide prognostic and management recommendations for similarly affected individuals...
  28. pmc A genome wide linkage search for breast cancer susceptibility genes
    Paula Smith
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
    Genes Chromosomes Cancer 45:646-55. 2006
    ..They also indicate that no single gene is likely to account for a large fraction of the familial aggregation of breast cancer that is not due to mutations in BRCA1 or BRCA2...
  29. ncbi request reprint An evaluation of BRCA1 and BRCA2 founder mutations penetrance estimates for breast cancer among Ashkenazi Jewish women
    Monica R McClain
    Foundation for Blood Research, Scarborough, Maine, USA
    Genet Med 7:34-9. 2005
    ..Reported estimates of the magnitude of this risk vary widely. We describe an integrated approach for assessing the plausibility of these estimates...
  30. pmc A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers
    Deborah Thompson
    Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Worts Causeway, Cambridge, CB1 8RN, United Kingdom
    Cancer Epidemiol Biomarkers Prev 15:2542-5. 2006
    ..Our results suggest that the risk of cancer associated with CHEK2 1100delC mutations is restricted to breast cancer, although we cannot rule out a small increase in overall cancer risk...
  31. pmc Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis
    Marcelo A Carvalho
    Risk Assessment, Detection, and Intervention Program, H Lee Moffitt Cancer Center, University of South Florida College of Medicine, 12902 Magnolia Drive, Tampa, FL 33612, USA
    Cancer Res 67:1494-501. 2007
    ..These results bring functional assays for BRCA1 closer to clinical applicability...
  32. ncbi request reprint Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications
    Monica R McClain
    Foundation for Blood Research, Scarborough, Maine, USA
    Genet Med 7:28-33. 2005
    ..Assuring reliability of information about these mutations is increasingly important to the health care community; mutation testing is becoming more widespread. We describe a methodology for assessing such information...
  33. ncbi request reprint Network modeling links breast cancer susceptibility and centrosome dysfunction
    Miguel Angel Pujana
    Center for Cancer Systems Biology CCSB, Dana Farber Cancer Institute and Department of Genetics, Harvard Medical School, 44 Binney St, Boston, Massachusetts 02115, USA
    Nat Genet 39:1338-49. 2007
    ..Our network modeling strategy should be useful for the discovery of additional cancer-associated genes...
  34. pmc Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors
    Rachel Linger
    Testicular Cancer Genetics Team, Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Genes Chromosomes Cancer 47:247-52. 2008
    ..Whether it is disease-causing or not, mutations in DND1 make, at most, a very small contribution to TGCT susceptibility in adults and adolescents...
  35. ncbi request reprint Estrogen receptor status could modulate the genomic pattern in familial and sporadic breast cancer
    Lorenzo Melchor
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center CNIO, Madrid, Spain
    Clin Cancer Res 13:7305-13. 2007
    ....
  36. pmc Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    Am J Hum Genet 82:937-48. 2008
    ....
  37. pmc Application of a BRAF pyrosequencing assay for mutation detection and copy number analysis in malignant melanoma
    Cynthia Spittle
    Clinical Translational Medicine, Oncology, Wyeth Research, 500 Arcola Rd, Collegeville, PA 19426, USA
    J Mol Diagn 9:464-71. 2007
    ..Pyro-sequencing serves as an excellent platform for BRAF genotyping of tumors from patients entering clinical trial...

Research Grants2

  1. IDENTIFYING MODIFYING GENES IN BRCA1 MUTATION CARRIERS
    Katherine Nathanson; Fiscal Year: 2005
    ..abstract_text> ..
  2. Using array CGH to identify prostate cancer genes
    Katherine Nathanson; Fiscal Year: 2005
    ....