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PMID |
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TITLE |
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Genome-wide association study identifies three new melanoma susceptibility loci. |
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ABSTRACT |
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We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 × 10(-9)), an SNP in MX2 (rs45430, P = 2.9 × 10(-9)) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 × 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 × 10(-7) under a fixed-effects model and P = 1.2 × 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series. |
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DATE PUBLISHED |
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HISTORY |
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PUBSTATUS |
PUBSTATUSDATE |
received |
2011/02/17 |
accepted |
2011/09/08 |
aheadofprint |
2011/10/09 |
entrez |
2011/10/11 06:00 |
pubmed |
2011/10/11 06:00 |
medline |
2011/12/20 06:00 |
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AUTHORS |
|
NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
Barrett JH |
|
Barrett |
Jennifer H |
JH |
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Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James’s University Hospital, Leeds, UK. |
Iles MM |
|
Iles |
Mark M |
MM |
|
|
Harland M |
|
Harland |
Mark |
M |
|
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Taylor JC |
|
Taylor |
John C |
JC |
|
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Aitken JF |
|
Aitken |
Joanne F |
JF |
|
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Andresen PA |
|
Andresen |
Per Arne |
PA |
|
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Akslen LA |
|
Akslen |
Lars A |
LA |
|
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Armstrong BK |
|
Armstrong |
Bruce K |
BK |
|
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Avril MF |
|
Avril |
Marie-Francoise |
MF |
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Azizi E |
|
Azizi |
Esther |
E |
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Bakker B |
|
Bakker |
Bert |
B |
|
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Bergman W |
|
Bergman |
Wilma |
W |
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Bianchi-Scarrà G |
|
Bianchi-Scarrà |
Giovanna |
G |
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Bressac-de Paillerets B |
|
Bressac-de Paillerets |
Brigitte |
B |
|
|
Calista D |
|
Calista |
Donato |
D |
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Cannon-Albright LA |
|
Cannon-Albright |
Lisa A |
LA |
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Corda E |
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Corda |
Eve |
E |
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Cust AE |
|
Cust |
Anne E |
AE |
|
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Dębniak T |
|
Dębniak |
Tadeusz |
T |
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Duffy D |
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Duffy |
David |
D |
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Dunning AM |
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Dunning |
Alison M |
AM |
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Easton DF |
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Easton |
Douglas F |
DF |
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Friedman E |
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Friedman |
Eitan |
E |
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Galan P |
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Galan |
Pilar |
P |
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Ghiorzo P |
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Ghiorzo |
Paola |
P |
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Giles GG |
|
Giles |
Graham G |
GG |
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Hansson J |
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Hansson |
Johan |
J |
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Hocevar M |
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Hocevar |
Marko |
M |
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Höiom V |
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Höiom |
Veronica |
V |
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Hopper JL |
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Hopper |
John L |
JL |
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Ingvar C |
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Ingvar |
Christian |
C |
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Janssen B |
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Janssen |
Bart |
B |
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Jenkins MA |
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Jenkins |
Mark A |
MA |
|
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Jönsson G |
|
Jönsson |
Göran |
G |
|
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Kefford RF |
|
Kefford |
Richard F |
RF |
|
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Landi G |
|
Landi |
Giorgio |
G |
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Landi MT |
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Landi |
Maria Teresa |
MT |
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Lang J |
|
Lang |
Julie |
J |
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Lubiński J |
|
Lubiński |
Jan |
J |
|
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Mackie R |
|
Mackie |
Rona |
R |
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Malvehy J |
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Malvehy |
Josep |
J |
|
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Martin NG |
|
Martin |
Nicholas G |
NG |
|
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Molven A |
|
Molven |
Anders |
A |
|
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Montgomery GW |
|
Montgomery |
Grant W |
GW |
|
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van Nieuwpoort FA |
|
van Nieuwpoort |
Frans A |
FA |
|
|
Novakovic S |
|
Novakovic |
Srdjan |
S |
|
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Olsson H |
|
Olsson |
Håkan |
H |
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Pastorino L |
|
Pastorino |
Lorenza |
L |
|
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Puig S |
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Puig |
Susana |
S |
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Puig-Butille JA |
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Puig-Butille |
Joan Anton |
JA |
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Randerson-Moor J |
|
Randerson-Moor |
Juliette |
J |
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Snowden H |
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Snowden |
Helen |
H |
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Tuominen R |
|
Tuominen |
Rainer |
R |
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Van Belle P |
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Van Belle |
Patricia |
P |
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van der Stoep N |
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van der Stoep |
Nienke |
N |
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Whiteman DC |
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Whiteman |
David C |
DC |
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Zelenika D |
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Zelenika |
Diana |
D |
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Han J |
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Han |
Jiali |
J |
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Fang S |
|
Fang |
Shenying |
S |
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Lee JE |
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Lee |
Jeffrey E |
JE |
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Wei Q |
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Wei |
Qingyi |
Q |
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Lathrop GM |
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Lathrop |
G Mark |
GM |
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Gillanders EM |
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Gillanders |
Elizabeth M |
EM |
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Brown KM |
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Brown |
Kevin M |
KM |
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Goldstein AM |
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Goldstein |
Alisa M |
AM |
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Kanetsky PA |
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Kanetsky |
Peter A |
PA |
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Mann GJ |
|
Mann |
Graham J |
GJ |
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Macgregor S |
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Macgregor |
Stuart |
S |
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Elder DE |
|
Elder |
David E |
DE |
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Amos CI |
|
Amos |
Christopher I |
CI |
|
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Hayward NK |
|
Hayward |
Nicholas K |
NK |
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Gruis NA |
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Gruis |
Nelleke A |
NA |
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Demenais F |
|
Demenais |
Florence |
F |
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Bishop JA |
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Bishop |
Julia A Newton |
JA |
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Bishop DT |
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Bishop |
D Timothy |
DT |
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GenoMEL Consortium |
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INVESTIGATORS |
|
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
Mann |
Graham J |
GJ |
|
Hopper |
John L |
JL |
|
Aitken |
Joanne F |
JF |
|
Armstrong |
Bruce K |
BK |
|
Giles |
Graham G |
GG |
|
Kefford |
Richard F |
RF |
|
Cust |
Anne |
A |
|
Jenkins |
Mark |
M |
|
Schmid |
Helen |
H |
|
Aguilera |
Paula |
P |
|
Badenas |
Celia |
C |
|
Carrera |
Cristina |
C |
|
Cuellar |
Francisco |
F |
|
Gabriel |
Daniel |
D |
|
Martinez |
Estefania |
E |
|
Gonzalez |
Melinda |
M |
|
Iglesias |
Pablo |
P |
|
Malvehy |
Josep |
J |
|
Marti-Laborda |
Rosa |
R |
|
Mila |
Montse |
M |
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Puig Butille |
Joan-Anton |
JA |
|
Puig |
Susana |
S |
|
Alós |
Llúcia |
L |
|
Arance |
Ana |
A |
|
Arguís |
Pedro |
P |
|
Campo |
Antonio |
A |
|
Castel |
Teresa |
T |
|
Conill |
Carlos |
C |
|
Palou |
Jose |
J |
|
Rull |
Ramon |
R |
|
Sánchez |
Marcelo |
M |
|
Vidal |
Sergi |
S |
|
Vilalta |
Antonio |
A |
|
Vilella |
Ramon |
R |
|
Martin |
Nicholas G |
NG |
|
Montgomery |
Grant W |
GW |
|
Duffy |
David |
D |
|
Whiteman |
David |
D |
|
MacGregor |
Stuart |
S |
|
Hayward |
Nicholas K |
NK |
|
Whiteman |
David |
D |
|
Webb |
Penny |
P |
|
Green |
Adele |
A |
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Parsons |
Peter |
P |
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Purdie |
David |
D |
|
Hayward |
Nicholas |
N |
|
Landi |
Maria Teresa |
MT |
|
Calista |
Donato |
D |
|
Landi |
Giorgio |
G |
|
Minghetti |
Paola |
P |
|
Arcangeli |
Fabio |
F |
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Bertazzi |
Pier Alberto |
PA |
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Bianchi |
Giovanna |
G |
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Ghiorzo |
Paola |
P |
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Pastorino |
Lorenza |
L |
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Bruno |
William |
W |
|
Battistuzzi |
Linda |
L |
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Gargiulo |
Sara |
S |
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Nasti |
Sabina |
S |
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Gliori |
Sara |
S |
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Origone |
Paola |
P |
|
Andreotti |
Virginia |
V |
|
Queirolo |
Paola |
P |
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Mackie |
Rona |
R |
|
Newton Bishop |
Julia A |
JA |
|
Affleck |
Paul |
P |
|
Barrett |
Jennifer H |
JH |
|
Timothy Bishop |
D |
D |
|
Harrison |
Jane |
J |
|
Iles |
M |
M |
|
Randerson |
Juliette |
J |
|
Harland |
Mark |
M |
|
Taylor |
C |
C |
|
Whittaker |
Linda |
L |
|
Kukalizch |
Kairen |
K |
|
Leake |
Susan |
S |
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Karpavicius |
Birute |
B |
|
Haynes |
Sue |
S |
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Mack |
Tricia |
T |
|
Chan |
May |
M |
|
Taylor |
Yvonne |
Y |
|
Davies |
John |
J |
|
King |
Paul |
P |
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Gruis |
Nelleke A |
NA |
|
van Nieuwpoort |
Frans A |
FA |
|
Out |
Coby |
C |
|
van der Drift |
Clasine |
C |
|
Bergman |
Wilma |
W |
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Kukutsch |
Nicole |
N |
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Bouwes Bavinck |
Jan Nico |
JN |
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Bakker |
Bert |
B |
|
van der Stoep |
Nienke |
N |
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Huurne |
Jeanet ter |
Jt |
|
van der Rhee |
Han |
H |
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Bekkenk |
Marcel |
M |
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Snels |
Dyon |
D |
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van Praag |
Marinus |
M |
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Brochez |
Lieve |
L |
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Gerritsen |
Rianne |
R |
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Crijns |
Marianne |
M |
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Vasen |
Hans |
H |
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Ingvar |
Christian |
C |
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Jönsson |
Göran |
G |
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Borg |
Åke |
Å |
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Måsbäck |
Anna |
A |
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Lundgren |
Lotta |
L |
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Baeckenhorn |
Katja |
K |
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Nielsen |
Kari |
K |
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Schmidt Casslén |
Anita |
A |
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Helsing |
Per |
P |
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Andresen |
Per Arne |
PA |
|
Rootwelt |
Helge |
H |
|
Akslen |
Lars A |
LA |
|
Molven |
Anders |
A |
|
Avril |
Françoise |
F |
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Bressac |
Brigitte |
B |
|
Chaudru |
Valérie |
V |
|
Chateigner |
Nicolas |
N |
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Corda |
Eve |
E |
|
Jeannin |
Patricia |
P |
|
Lesueur |
Fabienne |
F |
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de Lichy |
Mahaut |
M |
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Maubec |
Eve |
E |
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Mohamdi |
Hamida |
H |
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Demenais |
Florence |
F |
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Andry |
Pascale |
P |
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Bachollet |
Bertrand |
B |
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Bérard |
Frédéric |
F |
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Berthet |
Pascaline |
P |
|
Boitier |
Françoise |
F |
|
Bonadona |
Valérie |
V |
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Bonafé |
Louis |
L |
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Bonnetblanc |
Marie |
M |
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Cambazard |
Frédéric |
F |
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Caron |
Olivier |
O |
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Caux |
Frédéric |
F |
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Chevrant |
Jacqueline |
J |
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Chompret |
Agnès |
A |
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Demange |
Liliane |
L |
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Dereure |
Olivier |
O |
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Doré |
Xavier |
X |
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Doutre |
Sylvie |
S |
|
Dugast |
Catherine |
C |
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Faivre |
Laurence |
L |
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Grange |
Florent |
F |
|
Humbert |
Philippe |
P |
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Joly |
Pascal |
P |
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Kerob |
Delphine |
D |
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Lasset |
Christine |
C |
|
Thérèse Leccia |
Marie |
M |
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Lenoir |
Gilbert |
G |
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Leroux |
Dominique |
D |
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Levang |
Julien |
J |
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Lipsker |
Dan |
D |
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Mansard |
Sandrine |
S |
|
Martin |
Ludovic |
L |
|
Martin |
Tanguy |
T |
|
Mateus |
Christine |
C |
|
Michel |
Loïc |
L |
|
Morel |
Patrice |
P |
|
Olivier |
Laurence |
L |
|
Perrot |
Luc |
L |
|
Robert |
Caroline |
C |
|
Ronger |
Sandra |
S |
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Sassolas |
Bruno |
B |
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Souteyrand |
Pierre |
P |
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Stoppa |
Dominique |
D |
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Thomas |
Luc |
L |
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Vabres |
Pierre |
P |
|
Wierzbicka |
Eva |
E |
|
Elder |
David |
D |
|
Kanetsky |
Peter |
P |
|
Knorr |
Jillian |
J |
|
Ming |
Michael |
M |
|
Mitra |
Nandita |
N |
|
Ruffin |
Althea |
A |
|
Van |
Patricia |
P |
|
Lubiński |
Jan |
J |
|
Mirecka |
Aneta |
A |
|
Novakovic |
Srdjan |
S |
|
Hocevar |
Marko |
M |
|
Peric |
Barbara |
B |
|
Cerkovnik |
Petra |
P |
|
Höiom |
Veronica |
V |
|
Hansson |
Johan |
J |
|
Mann |
Graham J |
GJ |
|
Kefford |
Richard F |
RF |
|
Schmid |
Helen |
H |
|
Holland |
Elizabeth A |
EA |
|
Azizi |
Esther |
E |
|
Galore |
Gilli |
G |
|
Friedman |
Eitan |
E |
|
Baron |
Orna |
O |
|
Scope |
Alon |
A |
|
Pavlotsky |
Felix |
F |
|
Yakobson |
Emanuel |
E |
|
Cohen |
Irit |
I |
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Laitman |
Yael |
Y |
|
Milgrom |
Roni |
R |
|
Shimoni |
Iris |
I |
|
Dunning |
Alison |
A |
|
Easton |
Doug |
D |
|
Margerison |
Liz |
L |
|
Pooley |
Karen |
K |
|
Smith |
Phillip |
P |
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JOURNAL |
|
VOLUME: 43 |
ISSUE: 11 |
TITLE: Nature genetics |
ISOABBREVIATION: Nat. Genet. |
YEAR: 2011 |
MONTH: Nov |
DAY: |
MEDLINEDATE: |
SEASON: |
CITEDMEDIUM: Internet |
ISSN: 1546-1718 |
ISSNTYPE: Electronic |
|
MEDLINE JOURNAL |
|
MEDLINETA: Nat Genet |
COUNTRY: United States |
ISSNLINKING: 1061-4036 |
NLMUNIQUEID: 9216904 |
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PUBLICATION TYPE |
|
PUBLICATIONTYPE TEXT |
Journal Article |
Research Support, N.I.H., Extramural |
Research Support, N.I.H., Intramural |
Research Support, Non-U.S. Gov't |
|
COMMENTS AND CORRECTIONS |
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REFTYPE |
REFSOURCE |
REFPMID |
NOTE |
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|
GRANTS |
|
GRANTID |
AGENCY |
COUNTRY |
076113 |
Wellcome Trust |
United Kingdom |
10118 |
Cancer Research UK |
United Kingdom |
10589 |
Cancer Research UK |
United Kingdom |
C37059/A11941 |
Cancer Research UK |
United Kingdom |
C490/A10124 |
Cancer Research UK |
United Kingdom |
C588/A10589 |
Cancer Research UK |
United Kingdom |
C588/A4994 |
Cancer Research UK |
United Kingdom |
C8197/A10123 |
Cancer Research UK |
United Kingdom |
C8197/A10865 |
Cancer Research UK |
United Kingdom |
C8216/A6129 |
Cancer Research UK |
United Kingdom |
CA055075 |
NCI NIH HHS |
United States |
CA083115 |
NCI NIH HHS |
United States |
CA088363 |
NCI NIH HHS |
United States |
CA100264 |
NCI NIH HHS |
United States |
CA102422 |
NCI NIH HHS |
United States |
CA122838 |
NCI NIH HHS |
United States |
CA133996 |
NCI NIH HHS |
United States |
CA33996 |
NCI NIH HHS |
United States |
CA49449 |
NCI NIH HHS |
United States |
CA5558 |
NCI NIH HHS |
United States |
CA83115 |
NCI NIH HHS |
United States |
CA87969 |
NCI NIH HHS |
United States |
P30 CA042014 |
NCI NIH HHS |
United States |
R01 CA083115 |
NCI NIH HHS |
United States |
R01 CA083115-10 |
NCI NIH HHS |
United States |
|
Intramural NIH HHS |
United States |
|
GENERAL NOTE |
|
|
KEYWORDS |
|
|
MESH HEADINGS |
|
DESCRIPTORNAME |
QUALIFIERNAME |
Case-Control Studies |
|
Genetic Predisposition to Disease |
|
Genome-Wide Association Study |
|
Humans |
|
Melanoma |
genetics |
Polymorphism, Single Nucleotide |
genetics |
Skin Neoplasms |
genetics |
|
SUPPLEMENTARY MESH |
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GENE SYMBOLS |
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CHEMICALS |
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|
OTHER ID's |
|
OTHERID |
SOURCE |
NIHMS335189 |
NLM |
PMC3251256 |
NLM |
|
|