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Common Genetic Vari...
Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
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Spurdle, Amanda B. (author)
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Marquart, Louise (author)
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McGuffog, Lesley (author)
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show more...
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Healey, Sue (author)
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Sinilnikova, Olga (author)
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Wan, Fei (author)
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Chen, Xiaoqing (author)
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Beesley, Jonathan (author)
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Singer, Christian F. (author)
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Dressler, Anne-Catharine (author)
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Gschwantler-Kaulich, Daphne (author)
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Blum, Joanne L. (author)
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Tung, Nadine (author)
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Weitzel, Jeff (author)
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Lynch, Henry (author)
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Garber, Judy (author)
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Easton, Douglas F. (author)
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Peock, Susan (author)
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Cook, Margaret (author)
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Oliver, Clare T. (author)
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Frost, Debra (author)
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Conroy, Don (author)
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Evans, D. Gareth (author)
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Lalloo, Fiona (author)
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Eeles, Ros (author)
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Izatt, Louise (author)
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Davidson, Rosemarie (author)
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Chu, Carol (author)
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Eccles, Diana (author)
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Selkirk, Christina G. (author)
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Daly, Mary (author)
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Isaacs, Claudine (author)
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Stoppa-Lyonnet, Dominique (author)
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Sinilnikova, Olga M. (author)
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Buecher, Bruno (author)
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Belotti, Muriel (author)
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Mazoyer, Sylvie (author)
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Barjhoux, Laure (author)
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Verny-Pierre, Carole (author)
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Lasset, Christine (author)
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Dreyfus, Helene (author)
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Pujol, Pascal (author)
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Collonge-Rame, Marie-Agnes (author)
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Rookus, Matti A. (author)
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Verhoef, Senno (author)
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Kriege, Mieke (author)
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Hoogerbrugge, Nicoline (author)
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Ausems, Margreet G. E. M. (author)
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van Os, Theo A. (author)
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Wijnen, Juul (author)
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Devilee, Peter (author)
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Meijers-Heijboer, Hanne E. J. (author)
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Blok, Marinus J. (author)
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Heikkinen, Tuomas (author)
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Nevanlinna, Heli (author)
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Jakubowska, Anna (author)
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Lubinski, Jan (author)
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Huzarski, Tomasz (author)
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Byrski, Tomasz (author)
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Durocher, Francine (author)
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Couch, Fergus J. (author)
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Lindor, Noralane M. (author)
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Wang, Xianshu (author)
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Thomassen, Mads (author)
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Domchek, Susan (author)
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Nathanson, Kate (author)
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Caligo, M. A. (author)
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- Jernström, Helena (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Liljegren, Annelie (author)
- Karolinska Institutet
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- Ehrencrona, Hans (author)
- Uppsala universitet,Uppsala University,Medicinsk genetik,Hellström Pigg
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Karlsson, Per (author)
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Ganz, Patricia A. (author)
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Olopade, Olufunmilayo I. (author)
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Tomlinson, Gail (author)
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Neuhausen, Susan (author)
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Antoniou, Antonis C. (author)
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Chenevix-Trench, Georgia (author)
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Rebbeck, Timothy R. (author)
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(creator_code:org_t)
- 2011
- 2011
- English.
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In: Cancer Epidemiology Biomarkers & Prevention. - 1538-7755 .- 1055-9965. ; 20:5, s. 1032-1038
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http://www.ncbi.nlm.... (free)
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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http://kipublication...
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https://urn.kb.se/re...
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Abstract
Subject headings
Close
- Background: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. Methods: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. Results: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. Conclusion: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. Impact: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk. Cancer Epidemiol Biomarkers Prev; 20(5); 1032-38. (C) 2011 AACR.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- Single Nucleotide
- Polymorphism
- Humans
- Heterozygote
- Germ-Line Mutation
- Genotype
- Genetic Predisposition to Disease
- Female
- Cohort Studies
- Breast Neoplasms
- BRCA1 Protein
- BRCA2 Protein
- Prognosis
- Risk Factors
- Tumor Markers
- Biological
- Tumor Suppressor Proteins
- Ubiquitin-Protein Ligases
- MEDICINE
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
To the university's database
- By the author/editor
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Spurdle, Amanda ...
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Marquart, Louise
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McGuffog, Lesley
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Healey, Sue
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Sinilnikova, Olg ...
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Wan, Fei
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show more...
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Chen, Xiaoqing
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Beesley, Jonatha ...
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Singer, Christia ...
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Dressler, Anne-C ...
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Gschwantler-Kaul ...
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Blum, Joanne L.
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Tung, Nadine
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Weitzel, Jeff
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Lynch, Henry
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Garber, Judy
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Easton, Douglas ...
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Peock, Susan
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Cook, Margaret
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Oliver, Clare T.
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Frost, Debra
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Conroy, Don
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Evans, D. Gareth
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Lalloo, Fiona
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Eeles, Ros
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Izatt, Louise
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Davidson, Rosema ...
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Chu, Carol
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Eccles, Diana
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Selkirk, Christi ...
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Daly, Mary
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Isaacs, Claudine
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Stoppa-Lyonnet, ...
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Sinilnikova, Olg ...
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Buecher, Bruno
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Belotti, Muriel
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Mazoyer, Sylvie
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Barjhoux, Laure
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Verny-Pierre, Ca ...
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Lasset, Christin ...
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Dreyfus, Helene
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Pujol, Pascal
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Collonge-Rame, M ...
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Rookus, Matti A.
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Verhoef, Senno
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Kriege, Mieke
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Hoogerbrugge, Ni ...
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Ausems, Margreet ...
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van Os, Theo A.
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Wijnen, Juul
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Devilee, Peter
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Meijers-Heijboer ...
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Blok, Marinus J.
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Heikkinen, Tuoma ...
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Nevanlinna, Heli
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Jakubowska, Anna
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Lubinski, Jan
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Huzarski, Tomasz
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Byrski, Tomasz
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Durocher, Franci ...
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Couch, Fergus J.
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Lindor, Noralane ...
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Wang, Xianshu
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Thomassen, Mads
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Domchek, Susan
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Nathanson, Kate
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Caligo, M. A.
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Jernström, Helen ...
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Liljegren, Annel ...
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Ehrencrona, Hans
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Karlsson, Per
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Ganz, Patricia A ...
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Olopade, Olufunm ...
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Tomlinson, Gail
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Neuhausen, Susan
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Antoniou, Antoni ...
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Chenevix-Trench, ...
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Rebbeck, Timothy ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Cancer Epidemiol ...
- By the university
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Lund University
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Karolinska Institutet
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Uppsala University