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Variants at CHR8Q24.21 confer risk of cancer

A cancer, risk technology, applied in the diagnosis of cancer susceptibility in subjects, the field of cancer susceptibility, can solve the problems of unclear molecular and biological mechanisms of melanoma cells

Inactive Publication Date: 2008-08-06
DECODE GENETICS EHF
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the molecular and biological mechanisms of how normal melanocytes transform into melanoma cells remain unclear

Method used

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  • Variants at CHR8Q24.21 confer risk of cancer
  • Variants at CHR8Q24.21 confer risk of cancer
  • Variants at CHR8Q24.21 confer risk of cancer

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0209] Example 1 Identification of Regions Associated with Cancer

[0210] Research

[0211] A region on chromosome 8q24.21 has been identified that confers an increased risk for certain cancers, such as prostate cancer. This region was first detected by linkage analysis of prostate cancer (PrCa) families from prostate cancer patients closely related to breast cancer cases.

[0212] Patients Involved in Genetic Studies

[0213] The patient population diagnosed with prostate cancer since 1955 included 3123 patients, about one-third of whom were alive at the time of the study. The patient population diagnosed with breast cancer included 4045 patients. Approximately 950 prostate cancer patients were recruited at the time of the study. We were initially interested in discovering genes that contribute to both prostate and breast cancer. Therefore, we ran the list of our recruited patients against the pedigree database to cover the whole of Iceland. We only included at least t...

Embodiment 2

[0261] Example 2: Prostate cancer association confirmed in several groups (Cohort)

[0262] Additional analyzes further supported the presence of a prostate cancer-associated variant on chromosome 8q24. Allele -8 on microsatellite DG8S737 was associated with prostate cancer in three groups of European pedigrees from Iceland, Sweden and the United States. The estimated relative risk for this allele was 1.62 (P=2.7×10 -11 ). Approximately 19% of patients and 13% of the general population carried at least one copy (PAR=7.4%). This association was also reproduced in the African-American group with similar relative risks. In African-Americans, the frequency of this allele was higher, with 41% of patients and 30% of the population being carriers, resulting in a higher PAR (16.8%) and possibly a higher incidence of prostate cancer. morbidity. This allele was more strongly associated with aggressive prostate cancer.

[0263] Materials and methods

[0264] Icelandic Research Gro...

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Abstract

A site on chromosome 8q24.21 has been shown to play an important role in certain forms of cancer. Certain markers and haplotypes have been found to be indicative of susceptibility to particular cancers. Diagnostic applications for the identification of cancer susceptibility are described.

Description

[0001] related application [0002] This application is related to US Provisional Patent Application No. 60 / 682,147, filed May 18, 2005 and US Provisional Patent Application No. 60 / 795,768, filed April 28, 2006. The entire description of the above application is hereby incorporated by reference. Background of the invention [0003] Cancer, the uncontrolled growth of malignant cells, is a major health problem in the modern medical era and is one of the leading causes of death in developed countries. In the United States, one in four deaths is caused by cancer (Jemal, A. et al., CA Cancer J. Clin. 52:23-47 (2002)). [0004] In the last few decades, the incidence of prostate cancer has increased dramatically and is now the leading cause of death in the United States and Western Europe (Peschel, R.E. and J.W. Colberg, Lancet 4:233-41 (2003); Nelson, W.G. et al. N. Engl. J. Med. 349(4): 366-81 (2003)). In industrialized countries, prostate cancer is the most frequently diagnosed...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
Inventor 劳非·阿孟达多蒂尔尤利乌斯·格维兹门松帕特里克·舒莱姆
Owner DECODE GENETICS EHF
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