domingo, 11 de abril de 2010

Genomics in the Scientific Literature [1] - Cancer



Cancer
1. Exploring genetic susceptibility to cancer in diverse populations
Haiman CA & Stram DO // Curr Opin Genet Dev 2010 Mar

Curr Opin Genet Dev. 2010 Mar 30. [Epub ahead of print]
Exploring genetic susceptibility to cancer in diverse populations.
Haiman CA, Stram DO.

Department of Preventive Medicine, Keck School of Medicine and the Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, United States.
Abstract

Incidence rates for many cancers differ markedly by race/ethnicity and furthering our understanding of the genetic and environmental causes of such disparities is a scientific and public health need. Genome-wide association studies (GWAS) are widely acknowledged to provide important information about the etiology of common cancers. To date, these studies have been primarily conducted in European-derived populations. There are important reasons for extending the reach of GWAS studies to other groups and for conducting multiethnic genetic studies involving multiple populations and admixed populations. These include a (1) need to discover the full scope of variants that affect risk of disease in all populations, (2) furthering the understanding of disease pathways, and (3) to assist in fine-mapping of genetic associations by exploiting the differences in linkage disequilibrium between populations to narrow the range of marker alleles demarking regions that contain a true biologically relevant variant. Challenges to multiethnic studies relating to study power, control for hidden population structure, imputation, and use of shared controls for multiple cancer endpoints are discussed. Copyright © 2010. Published by Elsevier Ltd.

PMID: 20359883 [PubMed - as supplied by publisher]
http://www.ncbi.nlm.nih.gov/pubmed/20359883?dopt=Abstract


2. Prevalence and Predictors of Appropriate Colorectal Cancer Surveillance in Lynch Syndrome
Stoffel EM, et al.
Am J Gastroenterol 2010 Mar

Am J Gastroenterol. 2010 Mar 30. [Epub ahead of print]
Prevalence and Predictors of Appropriate Colorectal Cancer Surveillance in Lynch Syndrome.
Stoffel EM, Mercado RC, Kohlmann W, Ford B, Grover S, Conrad P, Blanco A, Shannon KM, Powell M, Chung DC, Terdiman J, Gruber SB, Syngal S.

[1] Division of Gastroenterology, Brigham and Women's Hospital, Boston, Massachusetts, USA [2] Division of Population Sciences, Dana-Farber Cancer Institute, Boston, Massachusetts, USA [3] Harvard Medical School, Boston, Massachusetts, USA.
Abstract

OBJECTIVES:Lynch syndrome (LS) is a hereditary cancer syndrome that conveys a high risk of colorectal cancer (CRC). Guidelines recommend colonoscopy every 1 to 2 years. There is limited information about screening compliance in this high-risk group.METHODS:Data about cancer screening behaviors were obtained from subjects recruited through four US cancer genetics clinics. The main outcome was prevalence of appropriate CRC surveillance for LS.RESULTS:A total of 181 individuals had a family history that met the Amsterdam criteria for LS (n=154) and/or had an identified mutation in a mismatch repair (MMR) gene (n=105). Of these 181 individuals, 131 (73%) had appropriate LS surveillance with colonoscopies at least every 2 years for their age >25 years. Of those with inadequate surveillance, 26/49 (53%) had colonoscopies at 3- to 5-year intervals. There were no significant differences in health-care setting, perceived risk of CRC, or compliance with screening for other cancers. Rates of appropriate surveillance were higher among individuals who had been referred for genetic evaluation for LS compared with those who had not (109/136 (80%) vs. 23/45 (51%), respectively, P=0.0004). In multivariate analysis, personal history of CRC (odds ratio (OR) 2.81), having a first-degree relative with CRC at age <50 years (OR 2.61), and having undergone a genetic evaluation (OR 4.62) were associated with appropriate CRC surveillance for LS.CONCLUSIONS:The time between colonoscopic exams in patients with LS is often longer than recommended by current guidelines and may place them at risk for interval cancers. Recognizing clinical features of LS and providing genetic counseling, evaluation, and intensive surveillance may improve cancer prevention for those at the highest risk for CRC.Am J Gastroenterol advance online publication, 30 March 2010; doi:10.1038/ajg.2010.120.

PMID: 20354509 [PubMed - as supplied by publisher]
http://www.ncbi.nlm.nih.gov/pubmed/20354509?dopt=Abstract


3. Systematic review and meta-analysis of the association between P53 codon 72 polymorphism and colorectal cancer
Tang NP, et al.
Eur J Surg Oncol 2010 Apr

Eur J Surg Oncol. 2010 Apr 2. [Epub ahead of print]
Systematic review and meta-analysis of the association between P53 codon 72 polymorphism and colorectal cancer.
Tang NP, Wu YM, Wang B, Ma J.

National Shanghai Center for New Drug Safety Evaluation and Research, Shanghai institute of pharmaceutical industry, 199 Guoshoujing Road, Zhangjiang Hi-Tech Park, Pudong, Shanghai 201203, PR China.
Abstract

BACKGROUND: A number of studies has evaluated the association between P53 codon 72 polymorphism and colorectal cancer. However, results were inconsistent. To clarify the role of this polymorphism in colorectal cancer, we conducted a meta-analysis on this topic. METHODS: Two authors independently searched the PubMed and EMBASE database from 1966 to January 2010 for studies regarding the association of P53 codon 72 polymorphism with colorectal cancer. Summary odds ratios with their corresponding 95% confidence intervals were calculated by using random-effects model. RESULTS: The combined results showed that P53 codon 72 variant genotypes were not associated with colorectal cancer risk when compared to Arg/Arg genotype (Pro/Pro: OR = 1.02, 95% CI = 0.80-1.29; Arg/Pro: OR = 1.00, 95% CI = 0.86-1.16; Pro allele: OR = 1.00, 95% CI = 0.86-1.17). When stratifying for study population, design and cancer location, no statistically significant results were observed either. CONCLUSION: Our data indicate that the P53 codon 72 polymorphism may be not associated with colorectal cancer risk. Copyright © 2010. Published by Elsevier Ltd.

PMID: 20363586 [PubMed - as supplied by publisher]
http://www.ncbi.nlm.nih.gov/pubmed/20363586?dopt=Abstract

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