Risk of ovarian cancer and inherited variants in relapse-associated genes.
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.


RESULTS
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.
Peedicayil
Abraham
A
Mayo Clinic College of Medicine, Rochester, Minnesota, United States of America.
Vierkant
Robert A
RA
Hartmann
Lynn C
LC
Fridley
Brooke L
BL
Fredericksen
Zachary S
ZS
White
Kristin L
KL
Elliott
Elaine A
EA
Phelan
Catherine M
CM
Tsai
Ya-Yu
YY
Berchuck
Andrew
A
Iversen
Edwin S
ES
Couch
Fergus J
FJ
Peethamabaran
Prema
P
Larson
Melissa C
MC
Kalli
Kimberly R
KR
Kosel
Matthew L
ML
Shridhar
Vijayalakshmi
V
Rider
David N
DN
Liebow
Mark
M
Cunningham
Julie M
JM
Schildkraut
Joellen M
JM
Sellers
Thomas A
TA
Goode
Ellen L
EL
D000368:Aged; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012008:Recurrence