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Risk of ovarian cancer and inherited variants in relapse-associated genes.
Abstract
BACKGROUND: We previously identified a panel of genes associated with outcome of ovarian
cancer. The purpose of the current study was to assess whether variants in these genes
correlated with ovarian cancer risk. METHODS AND FINDINGS: Women with and without
invasive ovarian cancer (749 cases, 1,041 controls) were genotyped at 136 single nucleotide
polymorphisms (SNPs) within 13 candidate genes. Risk was estimated for each SNP and
for overall variation within each gene. At the gene-level, variation within MSL1 (male-specific
lethal-1 homolog) was associated with risk of serous cancer (p = 0.03); haplotypes
within PRPF31 (PRP31 pre-mRNA processing factor 31 homolog) were associated with risk
of invasive disease (p = 0.03). MSL1 rs7211770 was associated with decreased risk
of serous disease (OR 0.81, 95% CI 0.66-0.98; p = 0.03). SNPs in MFSD7, BTN3A3, ZNF200,
PTPRS, and CCND1A were inversely associated with risk (p<0.05), and there was increased
risk at HEXIM1 rs1053578 (p = 0.04, OR 1.40, 95% CI 1.02-1.91). CONCLUSIONS: Tumor
studies can reveal novel genes worthy of follow-up for cancer susceptibility. Here,
we found that inherited markers in the gene encoding MSL1, part of a complex that
modifies the histone H4, may decrease risk of invasive serous ovarian cancer.
Type
Journal articleSubject
AgedCase-Control Studies
Female
Genetic Predisposition to Disease
Haplotypes
Humans
Middle Aged
Ovarian Neoplasms
Polymorphism, Single Nucleotide
Recurrence
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https://hdl.handle.net/10161/4525Published Version (Please cite this version)
10.1371/journal.pone.0008884Publication Info
Peedicayil, Abraham; Vierkant, Robert A; Hartmann, Lynn C; Fridley, Brooke L; Fredericksen,
Zachary S; White, Kristin L; ... Goode, Ellen L (2010). Risk of ovarian cancer and inherited variants in relapse-associated genes. PLoS One, 5(1). pp. e8884. 10.1371/journal.pone.0008884. Retrieved from https://hdl.handle.net/10161/4525.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Andrew Berchuck
James M. Ingram Distinguished Professor of Gynecologic Oncology
Dr. Andrew Berchuck is Director of the Duke Division of Gynecologic Oncology and holds
the James M. Ingram Distinguished Professorship. He is a practicing oncologist who
is actively involved in the surgical and chemotherapy management of women with ovarian,
endometrial and lower genital tract cancers. This includes minimally invasive laparoscopic
surgical approaches. He also has developed a research program that focuses on the
molecular-genetic alterations involved in malignant transformation of
Edwin Severin Iversen Jr.
Research Professor of Statistical Science
Bayesian statistical modeling with application to problems in genetic epidemiology
and cancer research; models for epidemiological risk assessment, including hierarchical
methods for combining related epidemiological studies; ascertainment corrections for
high risk family data; analysis of high-throughput genomic data sets.
Joellen Martha Schildkraut
Professor Emeritus in Family Medicine and Community Health
Dr. Schildkraut is an epidemiologist whose research includes the molecular epidemiology
of ovarian, breast and brain cancers. Dr. Schildkraut's research interests include
the study of the interaction between genetic and environmental factors. She is currently
involved in a large study of genome wide association and ovarian cancer risk and survival.
Some of her work is also focused on particular genetic pathways including the DNA
repair and apoptosis pathways. She currently leads a study of
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