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InterMEL: An international biorepository and clinical database to uncover predictors of survival in early-stage melanoma

-Core2), Irene Orlow (Co-PI- Core 2), Jessica M. Kenney (Research Assistant/Sr. Laboratory Specialist), Keimya D. Sadeghi (Research Assistant and Data Engineer), Kelli O’Connell (Research Biostatistician ... Services Production Manager). Author Contributions Conceptualization: Irene Orlow, James S. Wilmott, Anne E. Cust, Stergios J. Moschos, Eva Hernando, Christopher I. Amos, Jeffrey E. Lee, Pei-Fen Kuan, Ivan

Interpretation of Melanoma Risk Feedback in First-Degree Relatives of Melanoma Patients

Little is known about how individuals might interpret brief genetic risk feedback. We examined interpretation and behavioral intentions (sun protection, skin screening) in melanoma first-degree relatives (FDRs) after exposure to brief prototypic melanoma risk feedback. Using a 3 by 2 experimental pre-post design where feedback type (high-risk mutation, gene environment, and...

Interpretation of Melanoma Risk Feedback in First-Degree Relatives of Melanoma Patients

Little is known about how individuals might interpret brief genetic risk feedback. We examined interpretation and behavioral intentions (sun protection, skin screening) in melanoma first-degree relatives (FDRs) after exposure to brief prototypic melanoma risk feedback. Using a 3 by 2 experimental pre-post design where feedback type (high-risk mutation, gene environment, and...

Interpretation of Melanoma Risk Feedback in First-Degree Relatives of Melanoma Patients

Irene Orlow 1 Marianne Berwick 2 Laura Koehly 0 Department of Psychiatry & Behavioral Sciences, Memorial Sloan-Kettering Cancer Center , 641 Lexington Avenue, New York, NY 10022 , USA 1 Department of

Interpretation of Melanoma Risk Feedback in First-Degree Relatives of Melanoma Patients

Irene Orlow 1 Marianne Berwick 2 Laura Koehly 0 Department of Psychiatry & Behavioral Sciences, Memorial Sloan-Kettering Cancer Center , 641 Lexington Avenue, New York, NY 10022 , USA 1 Department of

No prognostic value added by vitamin D pathway SNPs to current prognostic system for melanoma survival

Mexico), Colin B. Begg, Ph.D. (co-PI), Irene Orlow, Ph.D. (co-Investigator), Klaus J. Busam, M.D. (Dermatopathologist), Anne S. Reiner, 10 / 13 M.P.H. (Biostatistician), Pampa Roy, Ph.D. (Laboratory

CYP2D6 phenotype, tamoxifen, and risk of contralateral breast cancer in the WECARE Study

(Coordinating Center) investigators and staff—Jonine L. Bernstein PhD (WECARE Study P.I.); Marinela Capanu PhD; Xiaolin Liang MD; Irene Orlow MSc, PhD; Anne S. Reiner MPH; Mark Robson, MD; and Meghan Woods MPH

Gastrointestinal stromal tumors: a case-only analysis of single nucleotide polymorphisms and somatic mutations

Gastrointestinal stromal tumors are rare soft tissue sarcomas that typically develop from mesenchymal cells with acquired gain-in-function mutations in KIT or PDGFRA oncogenes. These somatic mutations have been well-characterized, but little is known about inherited genetic risk factors. Given evidence that certain susceptibility loci and carcinogens are associated with...

Gastrointestinal Stromal Tumors, Somatic Mutations and Candidate Genetic Risk Variants

Gastrointestinal stromal tumors (GISTs) are rare but treatable soft tissue sarcomas. Nearly all GISTs have somatic mutations in either the KIT or PDGFRA gene, but there are no known inherited genetic risk factors. We assessed the relationship between KIT/PDGFRA mutations and select deletions or single nucleotide polymorphisms (SNPs) in 279 participants from a clinical trial of...

Variants in Estrogen Biosynthesis Genes, Sex Steroid Hormone Levels, and Endometrial Cancer: A HuGE Review

Variants in genes involved in estrogen biosynthesis are likely to be important in the etiology of endometrial cancer. This review summarizes data on variants in seven genes in the estrogen biosynthesis pathway and their relation to circulating levels of sex steroid hormones in women and to risk of endometrial cancer. Little or no association was found between genotypes of the...

Inherited Variation at MC1R and Histological Characteristics of Primary Melanoma

Variation in the melanocortin-1receptor (MC1R) gene is associated with pigmentary phenotypes and risk of malignant melanoma. Few studies have reported on MC1R variation with respect to tumor characteristics, especially clinically important prognostic features. We examined associations between MC1R variants and histopathological melanoma characteristics. Study participants were...

Vitamin D receptor polymorphisms and survival in patients with cutaneous melanoma: a population-based study

Factors known to affect melanoma survival include age at presentation, sex and tumor characteristics. Polymorphisms also appear to modulate survival following diagnosis. Result from other studies suggest that vitamin D receptor (VDR) polymorphisms (SNPs) impact survival in patients with glioma, renal cell carcinoma, lung, breast, prostate and other cancers; however, a...

Erratum to: Clinicopathologic Features of Incident and Subsequent Tumors in Patients with Multiple Primary Cutaneous Melanomas

Lynn From FRCPC Klaus J. Busam Colin B. Begg Terence Dwyer Stephen B. Gruber Peter A. Kanetsky Irene Orlow Stefano Rosso Nancy E. Thomas Marianne Berwick Richard A. Scolyer MBBS FRCPA FRCPath Bruce K

Risk of Non-Melanoma Cancers in First-Degree Relatives of CDKN2A Mutation Carriers

0 Bhramar Mukherjee, John Oliver DeLancey, Leon Raskin, Jessica Everett, Joanne Jeter, Colin B. Begg, Irene Orlow, Marianne Berwick, Bruce K. Armstrong, Anne Kricker, Loraine D. Marrett, Robert C

Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma

Background Cutaneous Malignant Melanoma causes over 75% of skin cancer-related deaths, and it is clear that many factors may contribute to the outcome. Matrix Metalloproteinases (MMPs) play an important role in the degradation and remodeling of the extracellular matrix and basement membrane that, in turn, modulate cell division, migration and angiogenesis. Some polymorphisms are...

Alterations of INK4A and INK4B Genes in Adult Soft Tissue Sarcomas: Effect on Survival

BACKGROUND: The INK4A and INK4B genes map to chromosome 9p21, with the INK4A gene encoding two protein products, p16 and p19ARF. Alterations of the INK4A and INK4B genes occur frequently in certain primary malignant neoplasms. This study was undertaken to evaluate the frequency of INK4A and INK4B gene alterations in a cohort of adult soft tissue sarcomas. METHODS: The status of...

Prognostic Significance of Transcription Factor E2F-1 in Bladder Cancer: Genotypic and Phenotypic Characterization

0 Oxford University Press 1 Farhang Rabbani , Victoria M. Richon, Irene Orlow, Ming-Lan Lu, Marija Drobnjak, Maria Dudas, Elizabeth Charytonowicz, Guido Dalbagni, Carlos Cordon-Cardo 2 Journal of the

Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population

Endometrial cancer (EC) contributes substantially to total burden of cancer morbidity and mortality in the United States. Family history is a known risk factor for EC, thus genetic factors may play a role in EC pathogenesis. Three previous genome-wide association studies (GWAS) have found only one locus associated with EC, suggesting that common variants with large effects may...

Lifetime Risk of Melanoma in CDKN2A Mutation Carriers in a Population-Based Sample

: Coordinating Center, Memorial SloanKettering Cancer Center, New York, NY: Marianne Berwick (PI, currently at the University of New Mexico), Colin B. Begg (Co-PI), Irene Orlow (Co-Investigator), Urvi Mujumdar

Vitamin D Metabolic Pathway Genes and Pancreatic Cancer Risk

Evidence on the association between vitamin D status and pancreatic cancer risk is inconsistent. This inconsistency may be partially attributable to variation in vitamin D regulating genes. We selected 11 vitamin D-related genes (GC, DHCR7, CYP2R1, VDR, CYP27B1, CYP24A1, CYP27A1, RXRA, CRP2, CASR and CUBN) totaling 213 single nucleotide polymorphisms (SNPs), and examined...