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Histopathology, ISSN 0309-0167, 11/2019, Volume 75, Issue 5, pp. 660 - 671
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 07/2018, Volume 63, Issue 8, pp. 877 - 886
Germline CHEK2 mutations confer increased cancer risk, for breast and other types, which is variable depending on the specific mutation. Of these, Large... 
WOMEN | INCREASED RISK | DNA-DAMAGE | GENETICS & HEREDITY | ALPHA-C HELIX | SUSCEPTIBILITY GENE | MUTATIONS | ACTIVATION MECHANISM | PROTEIN-KINASES | CHEK2-ASTERISK-1100DELC | TUMOR CHARACTERISTICS | Haplotypes | Breast cancer | Mutation | Kinases
Journal Article
Human Mutation, ISSN 1059-7794, 05/2019, Volume 40, Issue 5, pp. 631 - 648
Genetic testing for cancer predisposition leads to the identification of a number of variants with uncertain significance. To some extent, variants of BRCA1/2... 
breast cancer | functional assay | CHEK2 variants | yeast | DOMAIN | PHOSPHORYLATION | DNA-DAMAGE | KINASE | SUSCEPTIBILITY | MISSENSE MUTATIONS | BREAST-CANCER | RAD53 | CHK2 | GENETICS & HEREDITY | ATM | Family | Amino acid sequence | Forkhead protein | Breast cancer | Growth rate | BRCA1 protein | Genetic screening | Index Medicus
Journal Article
Journal Article
Cellular and Molecular Life Sciences, ISSN 1420-682X, 11/2016, Volume 73, Issue 22, pp. 4341 - 4354
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 08/2019, Volume 64, Issue 8, pp. 767 - 773
PALB2 loss-of-function variants play an important role in breast, pancreatic and possibly, ovarian and gastric cancer susceptibility. Their frequency can be... 
INHERITED MUTATIONS | WOMEN | PANEL | FAMILIES | PANCREATIC-CANCER | GENES | GENETICS & HEREDITY
Journal Article
by Dunning, Alison and Michailidou, Kyriaki and Kuchenbaecker, Karoline and Thompson, Deborah and French, Juliet and Beesley, Jonathan and Healey, Sue and Kar, Siddhartha and Pooley, Karen and Lopez-Knowles, Elena and Dicks, Ed and Barrowdale, Daniel and Sinnott-Armstrong, Nicholas A and Sallari, Richard C and Hillman, Kristine and Kaufmann, Susanne and Sivakumaran, Haran and Marjaneh, Mahdi Moradi and Lee, Jason S and Hills, Margaret and Jarosz, Monika and ry, Suzie and Canisius, Sander and KBolla, Manjeet and Dennis, Joe and Wang, Qin and LHopper, John and Southey, Mellissa C and Broeks, Annegien and Schmidt, Marjanka K and Lophatananon, Artitaya and Muir, K and Beckmann, Matthias W and Fasching, Peter and Santos Silva, Isabel and Peto, Julian and Sawyer, Elinor and Tomlinson, Ian and Burwinkel, Barbara and Marme, Federick and Guénel, Pascal and Truong, Thérèse and Bojesen, Stig and Flyger, Henrik and Gonzlez-Neira, Anna and Perez, Jose I.A and Anton-Culver, Hoda and Eunjung, Lee and Arndt, Volker and Brenner, Hermann and Meindl, Alfons and Schmutzler, Rita and Brauch, Hiltrud and Hamann, Ute and Aittomki, Kristiina and Blomqvist, Carl and Ito, Hidemi and Matsuo, Keitaro and Bogdanova, Natalia and Dörk, Thilo and Lindblom, Annika and Margolin, Sara and Kosma, Veli-Matti and Mannermaa, Arto and Tseng, Chiu-Chen and Wu, Anna and Lambrechts, Diether and Wildiers, Hans and Chang-Claude, Jenny and Rudolph, Anja and Peterlongo, Paolo and Radice, Paolo and EOlson, Janet and GGiles, Graham and Milne, Roger L and Haiman, Christopher A and Henderson, Brian and Goldberg, Mark and Teo, Soo Hwang and Yip, Cheng Har and Nord, Silje and Borresen-Dale, Anne-Lise and Kristensen, Vessela and Long, Jirong and Zheng, Wei and Pylks, Katri and Winqvist, Robert and Anulis, Irene and Knight, Julia A and Devilee, Peter and Seynaeve, Caroline and Figueroa, Jonine and Sherman, Mark and Czene, Kamila and Darabi, Hatef and Hollestelle, Antoinette and Ouweland, Ans and Humphreys, Keith and Gao, Yu-Tang and Shu, Xiao-Ou and ... and KConFab Investigators and HEBON and EMBRACE and GEMO Study Collaborators and kConFab Investigators and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet
Nature Genetics, ISSN 1061-4036, 03/2016, Volume 48, Issue 4, pp. 374 - 386
Journal Article
Journal Article