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GWAS Study

Genome-wide study of genetic polymorphisms predictive for outcome from first-line oxaliplatin-based chemotherapy in colorectal cancer patients.

Park HA, Edelmann D, Canzian F et al.

37539667 PubMed ID
GWAS Study Type
3647 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

PH
Park HA
ED
Edelmann D
CF
Canzian F
SP
Seibold P
HT
Harrison TA
HX
Hua X
SQ
Shi Q
SA
Silverman A
BA
Benner A
MA
Macauda A
SM
Schneider M
GR
Goldberg RM
AS
Alberts SR
HM
Hoffmeister M
BH
Brenner H
CA
Chan AT
PU
Peters U
NP
Newcomb PA
CJ
Chang-Claude J
Chapter II

Abstract

Summary of the research findings

We conducted the first large genome-wide association study to identify novel genetic variants that predict better (or poorer) prognosis in colorectal cancer patients receiving standard first-line oxaliplatin-based chemotherapy vs chemotherapy without oxaliplatin. We used data from two phase III trials, NCCTG N0147 and NCCTG N9741 and a population-based patient cohort, DACHS. Multivariable Cox proportional hazards models were employed, including an interaction term between each SNP and type of treatment for overall survival (OS) and progression-free survival. The analysis was performed for studies individually, and the results were combined using fixed-effect meta-analyses separately for resected stage III colon cancer (3098 patients from NCCTG N0147 and 549 patients from DACHS) and mCRC (505 patients from NCCTG N9741 and 437 patients from DACHS). We further performed gene-based analysis as well as in silico bioinformatics analysis for CRC-relevant functional genomic annotation of identified loci. In stage III colon cancer patients, a locus on chr22 (rs11912167) was associated with significantly poorer OS after oxaliplatin-based chemotherapy vs chemotherapy without oxaliplatin (Pinteraction < 5 × 10-8 ). For mCRC patients, three loci on chr1 (rs1234556), chr12 (rs11052270) and chr15 (rs11858406) were found to be associated with differential OS (P < 5 × 10-7 ). The locus on chr1 located in the intronic region of RCSD1 was replicated in an independent cohort of 586 mCRC patients from ALGB/SWOG 80405 (Pinteraction = .04). The GWA gene-based analysis yielded for RCSD1 the most significant association with differential OS in mCRC (P = 6.6 × 10-6 ). With further investigation into its biological mechanisms, this finding could potentially be used to individualize first-line treatment and improve clinical outcomes.

3,231 European ancestry individuals treated with oxaliplatin, 416 European ancestry individuals treated with other treatment

Chapter III

Study Statistics

Key metrics and study information

3647
Total Participants
GWAS
Study Type
Yes
Replicated
389 European ancestry individuals treated with oxaliplatin, 100 European ancestry individuals treated with other treatment
Replication Participants
European
Ancestry
U.S., Germany
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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