title: Common variants at 19p13 are associated with susceptibility to ovarian cancer.
abstract: Epithelial ovarian cancer (EOC) is the leading cause of death from gynecological malignancy in the developed world, accounting for 4% of the deaths from cancer in women. We performed a three-phase genome-wide association study of EOC survival in 8,951 individuals with EOC (cases) with available survival time data and a parallel association analysis of EOC susceptibility. Two SNPs at 19p13.11, rs8170 and rs2363956, showed evidence of association with survival (overall P = 5 × 10⁻⁴ and P = 6 × 10⁻⁴, respectively), but they did not replicate in phase 3. However, the same two SNPs demonstrated genome-wide significance for risk of serous EOC (P = 3 × 10⁻⁹ and P = 4 × 10⁻¹¹, respectively). Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development.
authors.affiliation: Department of Oncology, University of Cambridge, Cambridge, UK.
authors.forename: Kelly L
authors.initials: KL
authors.lastname: Bolton
authors.forename: Jonathan
authors.initials: J
authors.lastname: Tyrer
authors.forename: Honglin
authors.initials: H
authors.lastname: Song
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Ramus
authors.forename: Maria
authors.initials: M
authors.lastname: Notaridou
authors.forename: Chris
authors.initials: C
authors.lastname: Jones
authors.forename: Tanya
authors.initials: T
authors.lastname: Sher
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Gentry-Maharaj
authors.forename: Eva
authors.initials: E
authors.lastname: Wozniak
authors.forename: Ya-Yu
authors.initials: YY
authors.lastname: Tsai
authors.forename: Joanne
authors.initials: J
authors.lastname: Weidhaas
authors.forename: Daniel
authors.initials: D
authors.lastname: Paik
authors.forename: David J
authors.initials: DJ
authors.lastname: Van Den Berg
authors.forename: Daniel O
authors.initials: DO
authors.lastname: Stram
authors.forename: Celeste Leigh
authors.initials: CL
authors.lastname: Pearce
authors.forename: Anna H
authors.initials: AH
authors.lastname: Wu
authors.forename: Wendy
authors.initials: W
authors.lastname: Brewster
authors.forename: Hoda
authors.initials: H
authors.lastname: Anton-Culver
authors.forename: Argyrios
authors.initials: A
authors.lastname: Ziogas
authors.forename: Steven A
authors.initials: SA
authors.lastname: Narod
authors.forename: Douglas A
authors.initials: DA
authors.lastname: Levine
authors.forename: Stanley B
authors.initials: SB
authors.lastname: Kaye
authors.forename: Robert
authors.initials: R
authors.lastname: Brown
authors.forename: Jim
authors.initials: J
authors.lastname: Paul
authors.forename: James
authors.initials: J
authors.lastname: Flanagan
authors.forename: Weiva
authors.initials: W
authors.lastname: Sieh
authors.forename: Valerie
authors.initials: V
authors.lastname: McGuire
authors.forename: Alice S
authors.initials: AS
authors.lastname: Whittemore
authors.forename: Ian
authors.initials: I
authors.lastname: Campbell
authors.forename: Martin E
authors.initials: ME
authors.lastname: Gore
authors.forename: Jolanta
authors.initials: J
authors.lastname: Lissowska
authors.forename: Hanna P
authors.initials: HP
authors.lastname: Yang
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Medrek
authors.forename: Jacek
authors.initials: J
authors.lastname: Gronwald
authors.forename: Jan
authors.initials: J
authors.lastname: Lubinski
authors.forename: Anna
authors.initials: A
authors.lastname: Jakubowska
authors.forename: Nhu D
authors.initials: ND
authors.lastname: Le
authors.forename: Linda S
authors.initials: LS
authors.lastname: Cook
authors.forename: Linda E
authors.initials: LE
authors.lastname: Kelemen
authors.forename: Angela
authors.initials: A
authors.lastname: Brooks-Wilson
authors.forename: Angela
authors.initials: A
authors.lastname: Brook-Wilson
authors.forename: Leon F A G
authors.initials: LF
authors.lastname: Massuger
authors.forename: Lambertus A
authors.initials: LA
authors.lastname: Kiemeney
authors.forename: Katja K H
authors.initials: KK
authors.lastname: Aben
authors.forename: Anne M
authors.initials: AM
authors.lastname: van Altena
authors.forename: Richard
authors.initials: R
authors.lastname: Houlston
authors.forename: Ian
authors.initials: I
authors.lastname: Tomlinson
authors.forename: Rachel T
authors.initials: RT
authors.lastname: Palmieri
authors.forename: Patricia G
authors.initials: PG
authors.lastname: Moorman
authors.forename: Joellen
authors.initials: J
authors.lastname: Schildkraut
authors.forename: Edwin S
authors.initials: ES
authors.lastname: Iversen
authors.forename: Catherine
authors.initials: C
authors.lastname: Phelan
authors.forename: Robert A
authors.initials: RA
authors.lastname: Vierkant
authors.forename: Julie M
authors.initials: JM
authors.lastname: Cunningham
authors.forename: Ellen L
authors.initials: EL
authors.lastname: Goode
authors.forename: Brooke L
authors.initials: BL
authors.lastname: Fridley
authors.forename: Susan
authors.initials: S
authors.lastname: Kruger-Kjaer
authors.forename: Jan
authors.initials: J
authors.lastname: Blaeker
authors.forename: Estrid
authors.initials: E
authors.lastname: Hogdall
authors.forename: Claus
authors.initials: C
authors.lastname: Hogdall
authors.forename: Jenny
authors.initials: J
authors.lastname: Gross
authors.forename: Beth Y
authors.initials: BY
authors.lastname: Karlan
authors.forename: Roberta B
authors.initials: RB
authors.lastname: Ness
authors.forename: Robert P
authors.initials: RP
authors.lastname: Edwards
authors.forename: Kunle
authors.initials: K
authors.lastname: Odunsi
authors.forename: Kirsten B
authors.initials: KB
authors.lastname: Moyisch
authors.forename: Julie A
authors.initials: JA
authors.lastname: Baker
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authors.lastname: Modugno
authors.forename: Tuomas
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authors.lastname: Heikkinenen
authors.forename: Ralf
authors.initials: R
authors.lastname: Butzow
authors.forename: Heli
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authors.lastname: Nevanlinna
authors.forename: Arto
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authors.lastname: Leminen
authors.forename: Natalia
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authors.lastname: Bogdanova
authors.forename: Natalia
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authors.lastname: Antonenkova
authors.forename: Thilo
authors.initials: T
authors.lastname: Doerk
authors.forename: Peter
authors.initials: P
authors.lastname: Hillemanns
authors.forename: Matthias
authors.initials: M
authors.lastname: Dürst
authors.forename: Ingo
authors.initials: I
authors.lastname: Runnebaum
authors.forename: Pamela J
authors.initials: PJ
authors.lastname: Thompson
authors.forename: Michael E
authors.initials: ME
authors.lastname: Carney
authors.forename: Marc T
authors.initials: MT
authors.lastname: Goodman
authors.forename: Galina
authors.initials: G
authors.lastname: Lurie
authors.forename: Shan
authors.initials: S
authors.lastname: Wang-Gohrke
authors.forename: Rebecca
authors.initials: R
authors.lastname: Hein
authors.forename: Jenny
authors.initials: J
authors.lastname: Chang-Claude
authors.forename: Mary Anne
authors.initials: MA
authors.lastname: Rossing
authors.forename: Kara L
authors.initials: KL
authors.lastname: Cushing-Haugen
authors.forename: Jennifer
authors.initials: J
authors.lastname: Doherty
authors.forename: Chu
authors.initials: C
authors.lastname: Chen
authors.forename: Thorunn
authors.initials: T
authors.lastname: Rafnar
authors.forename: Soren
authors.initials: S
authors.lastname: Besenbacher
authors.forename: Patrick
authors.initials: P
authors.lastname: Sulem
authors.forename: Kari
authors.initials: K
authors.lastname: Stefansson
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Birrer
authors.forename: Kathryn L
authors.initials: KL
authors.lastname: Terry
authors.forename: Dena
authors.initials: D
authors.lastname: Hernandez
authors.forename: Daniel W
authors.initials: DW
authors.lastname: Cramer
authors.forename: Ignace
authors.initials: I
authors.lastname: Vergote
authors.forename: Frederic
authors.initials: F
authors.lastname: Amant
authors.forename: Diether
authors.initials: D
authors.lastname: Lambrechts
authors.forename: Evelyn
authors.initials: E
authors.lastname: Despierre
authors.forename: Peter A
authors.initials: PA
authors.lastname: Fasching
authors.forename: Matthias W
authors.initials: MW
authors.lastname: Beckmann
authors.forename: Falk C
authors.initials: FC
authors.lastname: Thiel
authors.forename: Arif B
authors.initials: AB
authors.lastname: Ekici
authors.forename: Xiaoqing
authors.initials: X
authors.lastname: Chen
authors.forename: Sharon E
authors.initials: SE
authors.lastname: Johnatty
authors.forename: Penelope M
authors.initials: PM
authors.lastname: Webb
authors.forename: Jonathan
authors.initials: J
authors.lastname: Beesley
authors.forename: Stephen
authors.initials: S
authors.lastname: Chanock
authors.forename: Montserrat
authors.initials: M
authors.lastname: Garcia-Closas
authors.forename: Tom
authors.initials: T
authors.lastname: Sellers
authors.forename: Douglas F
authors.initials: DF
authors.lastname: Easton
authors.forename: Andrew
authors.initials: A
authors.lastname: Berchuck
authors.forename: Georgia
authors.initials: G
authors.lastname: Chenevix-Trench
authors.forename: Paul D P
authors.initials: PD
authors.lastname: Pharoah
authors.forename: Simon A
authors.initials: SA
authors.lastname: Gayther
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D018262:Adenocarcinoma, Clear Cell / Q000235:genetics / Q000473:pathology; D002288:Adenocarcinoma, Mucinous / Q000235:genetics / Q000473:pathology; D014408:Biomarkers, Tumor / Q000235:genetics; D016022:Case-Control Studies; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D018284:Cystadenocarcinoma, Serous / Q000235:genetics / Q000473:pathology; D016889:Endometrial Neoplasms / Q000235:genetics / Q000473:pathology; D005260:Female; D020869:Gene Expression Profiling; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D010053:Ovary / Q000378:metabolism / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D014407:Tumor Cells, Cultured
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C540398:BABAM1 protein, human; D014408:Biomarkers, Tumor