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2019
Mark Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
Parsons, Michael T ; Tudini, Emma ; Li, Hongyan ; Hahnen, Eric ; Wappenschmidt, Barbara ; Feliubadaló, Lidia ; Aalfs, Cora M ; Agata, Simona ; Aittomäki, Kristiina and Alducci, Elisa , et al. (2019) In Human Mutation p.1557-1578
- Contribution to journal › Article
2018
Mark The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
Moghadasi, Setareh ; Meeks, Huong D. ; Vreeswijk, Maaike P G ; Janssen, Linda A.M. ; Borg, Åke ^LU ; Ehrencrona, Hans ^LU ; Paulsson-Karlsson, Ylva ; Wappenschmidt, Barbara ; Engel, Christoph and Gehrig, Andrea , et al. (2018) In Journal of Medical Genetics 55(1). p.15-20
- Contribution to journal › Article
Mark Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Rebbeck, Timothy R. ; Friebel, Tara M. ; Friedman, Eitan ; Hamann, Ute ; Huo, Dezheng ; Kwong, Ava ; Olah, Edith ; Olopade, Olufunmilayo I. ; Solano, Angela R. and Teo, Soo Hwang , et al. (2018) In Human Mutation 39(5). p.593-620
- Contribution to journal › Article
2017
Mark Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Phelan, Catherine M. ; Kuchenbaecker, Karoline B. ; Tyrer, Jonathan P. ; Kar, Siddhartha P. ; Lawrenson, Kate ; Winham, Stacey J. ; Dennis, Joe ; Pirie, Ailith ; Riggan, Marjorie J. and Chornokur, Ganna , et al. (2017) In Nature Genetics 49(5). p.680-691
- Contribution to journal › Article
Mark Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3
Hamdi, Yosr ; Soucy, Penny ; Kuchenbaeker, Karoline B. ; Pastinen, Tomi ; Droit, Arnaud ; Lemaçon, Audrey ; Adlard, Julian ; Aittomäki, Kristiina ; Andrulis, Irene L. and Arason, Adalgeir , et al. (2017) In Breast Cancer Research and Treatment 161(1). p.117-134
- Contribution to journal › Article
2016
Mark Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
Rebbeck, Timothy R. ; Friebel, Tara M. ; Mitra, Nandita ; Wan, Fei ; Chen, Stephanie ; Andrulis, Irene L. ; Apostolou, Paraskevi ; Arnold, Norbert ; Arun, Banu K. and Barrowdale, Daniel , et al. (2016) In Breast Cancer Research 18(1).
- Contribution to journal › Article
Mark Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Dunning, Alison M ; Michailidou, Kyriaki ; Kuchenbaecker, Karoline B ; Thompson, Deborah ; French, Juliet D ; Beesley, Jonathan ; Healey, Catherine S ; Kar, Siddhartha ; Pooley, Karen A and Lopez-Knowles, Elena , et al. (2016) In Nature Genetics
- Contribution to journal › Article
Mark No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
Hollestelle, Antoinette ; Van Der Baan, Frederieke H. ; Berchuck, Andrew ; Johnatty, Sharon E. ; Aben, Katja K. ; Agnarsson, Bjarni A. ; Aittomäki, Kristiina ; Alducci, Elisa ; Andrulis, Irene L. and Anton-Culver, Hoda , et al. (2016) In Gynecologic Oncology 141(2). p.386-401
- Contribution to journal › Article
2015
Mark Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers.
Blanco, Ignacio ; Kuchenbaecker, Karoline ; Cuadras, Daniel ; Wang, Xianshu ; Barrowdale, Daniel ; de Garibay, Gorka Ruiz ; Librado, Pablo ; Sánchez-Gracia, Alejandro ; Rozas, Julio and Bonifaci, Núria , et al. (2015) In PLoS ONE 10(4).
- Contribution to journal › Article
Mark An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Blein, Sophie ; Bardel, Claire ; Danjean, Vincent ; McGuffog, Lesley ; Healey, Sue ; Barrowdale, Daniel ; Lee, Andrew ; Dennis, Joe ; Kuchenbaecker, Karoline B and Soucy, Penny , et al. (2015) In Breast Cancer Research 17(1).
- Contribution to journal › Article

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