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Breast cancer risk and 6q22.33 combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Kirchhoff, Tomas (author)
Gaudet, Mia M (author)
Antoniou, Antonis C (author)
show more...
McGuffog, Lesley (author)
Humphreys, Manjeet K (author)
Dunning, Alison M (author)
Bojesen, Stig E (author)
Nordestgaard, Børge G (author)
Flyger, Henrik (author)
Kang, Daehee (author)
Yoo, Keun-Young (author)
Noh, Dong-Young (author)
Ahn, Sei-Hyun (author)
Dork, Thilo (author)
Schürmann, Peter (author)
Karstens, Johann H (author)
Hillemanns, Peter (author)
Couch, Fergus J (author)
Olson, Janet (author)
Vachon, Celine (author)
Wang, Xianshu (author)
Cox, Angela (author)
Brock, Ian (author)
Elliott, Graeme (author)
Reed, Malcolm W R (author)
Burwinkel, Barbara (author)
Meindl, Alfons (author)
Brauch, Hiltrud (author)
Hamann, Ute (author)
Ko, Yon-Dschun (author)
Broeks, Annegien (author)
Schmidt, Marjanka K (author)
Van 't Veer, Laura J (author)
Braaf, Linde M (author)
Johnson, Nichola (author)
Fletcher, Olivia (author)
Gibson, Lorna (author)
Peto, Julian (author)
Turnbull, Clare (author)
Seal, Sheila (author)
Renwick, Anthony (author)
Rahman, Nazneen (author)
Wu, Pei-Ei (author)
Yu, Jyh-Cherng (author)
Hsiung, Chia-Ni (author)
Shen, Chen-Yang (author)
Southey, Melissa C (author)
Hopper, John L (author)
Hammet, Fleur (author)
Van Dorpe, Thijs (author)
Dieudonne, Anne-Sophie (author)
Hatse, Sigrid (author)
Lambrechts, Diether (author)
Andrulis, Irene L (author)
Bogdanova, Natalia (author)
Antonenkova, Natalia (author)
Rogov, Juri I (author)
Prokofieva, Daria (author)
Bermisheva, Marina (author)
Khusnutdinova, Elza (author)
van Asperen, Christi J (author)
Tollenaar, Robert A E M (author)
Hooning, Maartje J (author)
Devilee, Peter (author)
Margolin, Sara (author)
Lindblom, Annika (author)
Milne, Roger L (author)
Arias, José Ignacio (author)
Zamora, M Pilar (author)
Benítez, Javier (author)
Severi, Gianluca (author)
Baglietto, Laura (author)
Giles, Graham G (author)
Spurdle, Amanda B (author)
Beesley, Jonathan (author)
Chen, Xiaoqing (author)
Holland, Helene (author)
Healey, Sue (author)
Wang-Gohrke, Shan (author)
Chang-Claude, Jenny (author)
Mannermaa, Arto (author)
Kosma, Veli-Matti (author)
Kauppinen, Jaana (author)
Kataja, Vesa (author)
Agnarsson, Bjarni A (author)
Caligo, Maria A (author)
Godwin, Andrew K (author)
Nevanlinna, Heli (author)
Heikkinen, Tuomas (author)
Fredericksen, Zachary (author)
Lindor, Noralane (author)
Nathanson, Katherine L (author)
Domchek, Susan M (author)
Loman, Niklas (author)
Karlsson, Per (author)
Stenmark Askmalm, Marie (author)
Melin, Beatrice (author)
von Wachenfeldt, Anna (author)
Hogervorst, Frans B L (author)
Verheus, Martijn (author)
Rookus, Matti A (author)
Seynaeve, Caroline (author)
Oldenburg, Rogier A (author)
Ligtenberg, Marjolijn J (author)
Ausems, Margreet G E M (author)
Aalfs, Cora M (author)
Gille, Hans J P (author)
Wijnen, Juul T (author)
Gómez García, Encarna B (author)
Peock, Susan (author)
Cook, Margaret (author)
Oliver, Clare T (author)
Frost, Debra (author)
Luccarini, Craig (author)
Pichert, Gabriella (author)
Davidson, Rosemarie (author)
Chu, Carol (author)
Eccles, Diana (author)
Ong, Kai-Ren (author)
Cook, Jackie (author)
Douglas, Fiona (author)
Hodgson, Shirley (author)
Evans, D Gareth (author)
Eeles, Rosalind (author)
Gold, Bert (author)
Pharoah, Paul D P (author)
Offit, Kenneth (author)
Chenevix-Trench, Georgia (author)
Easton, Douglas F (author)
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 (publisher)
Public library of science 2012
2012
English.
In: PLoS ONE. - 1932-6203. ; 7:6
  • swepub:Mat__t
Abstract Subject headings
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  • Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95% CI: 0.68 to 0.79, p-value 2x 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95% CI: 0.59 to 0.80, p-value 1.0 x 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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By the author/editor
Kirchhoff, Tomas
Gaudet, Mia M
Antoniou, Antoni ...
McGuffog, Lesley
Humphreys, Manje ...
Dunning, Alison ...
show more...
Bojesen, Stig E
Nordestgaard, Bø ...
Flyger, Henrik
Kang, Daehee
Yoo, Keun-Young
Noh, Dong-Young
Ahn, Sei-Hyun
Dork, Thilo
Schürmann, Peter
Karstens, Johann ...
Hillemanns, Pete ...
Couch, Fergus J
Olson, Janet
Vachon, Celine
Wang, Xianshu
Cox, Angela
Brock, Ian
Elliott, Graeme
Reed, Malcolm W ...
Burwinkel, Barba ...
Meindl, Alfons
Brauch, Hiltrud
Hamann, Ute
Ko, Yon-Dschun
Broeks, Annegien
Schmidt, Marjank ...
Van 't Veer, Lau ...
Braaf, Linde M
Johnson, Nichola
Fletcher, Olivia
Gibson, Lorna
Peto, Julian
Turnbull, Clare
Seal, Sheila
Renwick, Anthony
Rahman, Nazneen
Wu, Pei-Ei
Yu, Jyh-Cherng
Hsiung, Chia-Ni
Shen, Chen-Yang
Southey, Melissa ...
Hopper, John L
Hammet, Fleur
Van Dorpe, Thijs
Dieudonne, Anne- ...
Hatse, Sigrid
Lambrechts, Diet ...
Andrulis, Irene ...
Bogdanova, Natal ...
Antonenkova, Nat ...
Rogov, Juri I
Prokofieva, Dari ...
Bermisheva, Mari ...
Khusnutdinova, E ...
van Asperen, Chr ...
Tollenaar, Rober ...
Hooning, Maartje ...
Devilee, Peter
Margolin, Sara
Lindblom, Annika
Milne, Roger L
Arias, José Igna ...
Zamora, M Pilar
Benítez, Javier
Severi, Gianluca
Baglietto, Laura
Giles, Graham G
Spurdle, Amanda ...
Beesley, Jonatha ...
Chen, Xiaoqing
Holland, Helene
Healey, Sue
Wang-Gohrke, Sha ...
Chang-Claude, Je ...
Mannermaa, Arto
Kosma, Veli-Matt ...
Kauppinen, Jaana
Kataja, Vesa
Agnarsson, Bjarn ...
Caligo, Maria A
Godwin, Andrew K
Nevanlinna, Heli
Heikkinen, Tuoma ...
Fredericksen, Za ...
Lindor, Noralane
Nathanson, Kathe ...
Domchek, Susan M
Loman, Niklas
Karlsson, Per
Stenmark Askmalm ...
Melin, Beatrice
von Wachenfeldt, ...
Hogervorst, Fran ...
Verheus, Martijn
Rookus, Matti A
Seynaeve, Caroli ...
Oldenburg, Rogie ...
Ligtenberg, Marj ...
Ausems, Margreet ...
Aalfs, Cora M
Gille, Hans J P
Wijnen, Juul T
Gómez García, En ...
Peock, Susan
Cook, Margaret
Oliver, Clare T
Frost, Debra
Luccarini, Craig
Pichert, Gabriel ...
Davidson, Rosema ...
Chu, Carol
Eccles, Diana
Ong, Kai-Ren
Cook, Jackie
Douglas, Fiona
Hodgson, Shirley
Evans, D Gareth
Eeles, Rosalind
Gold, Bert
Pharoah, Paul D ...
Offit, Kenneth
Chenevix-Trench, ...
Easton, Douglas ...
show less...
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