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2020
Mark The spectrum of fancm protein truncating variants in European breast cancer cases
Figlioli, Gisella ; Ehrencrona, Hans ^LU and Peterlongo, Paolo (2020) In Cancers 12(2).
- Contribution to journal › Article
Mark Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families
Yang, Xin ; Leslie, Goska ; Doroszuk, Alicja ; Schneider, Sandra ; Allen, Jamie ; Decker, Brennan ; Dunning, Alison M. ; Redman, James ; Scarth, James and Plaskocinska, Inga , et al. (2020) In Journal of Clinical Oncology 38(7). p.674-685
- Contribution to journal › Article
2019
Mark The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
Figlioli, Gisella ; Brenner, Hermann ^LU ; Ellberg, Carolina ^LU ; Hall, Per ^LU ; Olsson, Håkan ^LU and Peterlongo, Paolo (2019) In npj Breast Cancer 5(1).
- Contribution to journal › Article
2018
Mark Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Catucci, Irene ; Osorio, Ana ; Arver, Brita ; Neidhardt, Guido ; Bogliolo, Massimo ; Zanardi, Federica ; Riboni, Mirko ; Minardi, Simone ; Pujol, Roser and Azzollini, Jacopo , et al. (2018) In Genetics in Medicine 20. p.452-457
- 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 Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers
Kuchenbaecker, Karoline B. ; McGuffog, Lesley ; Barrowdale, Daniel ; Lee, Andrew ; Soucy, Penny ; Dennis, Joe ; Domchek, Susan M. ; Robson, Mark ; Spurdle, Amanda B. and Ramus, Susan J. , et al. (2017) In Journal of the National Cancer Institute 109(7).
- 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 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 BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
Meeks, Huong D. ; Song, Honglin ; Michailidou, Kyriaki ; Bolla, Manjeet K. ; Dennis, Joe ; Wang, Qin ; Barrowdale, Daniel ; Frost, Debra ; McGuffog, Lesley and Ellis, Steve , et al. (2016) In Journal of the National Cancer Institute 108(2).
- Contribution to journal › Article
Mark Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Couch, Fergus J ; Kuchenbaecker, Karoline B. ; Michailidou, Kyriaki ; Mendoza-Fandino, Gustavo A. ; Nord, Silje ; Lilyquist, Janna ; Olswold, Curtis ; Hallberg, Emily ; Agata, Simona and Ahsan, Habibul , et al. (2016) In Nature Communications 7.
- Contribution to journal › Article

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