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by Dork, T and Peterlongo, P and Mannermaa, A and Bolla, MK and Wang, Q and Dennis, J and Ahearn, T and Andrulis, IL and Anton-Culver, H and Arndt, V and Aronson, KJ and Augustinsson, A and Freeman, LEB and Beckmann, MW and Beeghly-Fadiel, A and Behrens, S and Bermisheva, M and Blomqvist, C and Bogdanova, N and Bojesen, SE and Brauch, H and Brenner, H and Burwinkel, B and Canzian, F and Chan, TL and Chang-Claude, J and Chanock, SJ and Choi, JY and Christiansen, H and Clarke, CL and Couch, FJ and Czene, K and Daly, MB and dos-Santos-Silva, I and Dwek, M and Eccles, DM and Ekici, AB and Eriksson, M and Evans, DG and Fasching, PA and Figueroa, J and Flyger, H and Fritschisl, L and Gabrielson, M and Gago-Dominguez, M and Gao, C and Gapstur, SM and Garcia-Closas, M and Garcia-Saenz, JA and Gaudet, MM and Giles, GG and Goldberg, MS and Goldgar, DE and Guenel, P and Haeberle, L and Haiman, CA and Hakansson, N and Hall, P and Hamann, U and Hartman, M and Hauke, J and Hein, A and Hillemanns, P and Hogervorst, FBL and Hooning, MJ and Hopper, JL and Howell, T and Huo, DZ and Ito, H and Iwasaki, M and Jakubowska, A and Janni, W and John, EM and Jung, A and Kaaks, R and Kang, D and Kapoor, PM and Khusnutdinova, E and Kim, SW and Kitahara, CM and Koutros, S and Kraft, P and Kristensen, VN and Kwon, A and Lambrechts, D and Le Marchand, L and Li, JM and Lindstrom, S and Linet, M and Lo, WY and Long, JR and Lophatananon, A and Lubinski, J and Manoochehri, M and Manoukian, S and Margolin, S and Martinez, E and Matsuo, K and Mavroudis, D and Meindl, A and ... and ABCTB Investigators and NBCS Collaborators
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 12524 - 14
Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been... 
PROTEIN | FANCONIS ANEMIA | GENE | MULTIDISCIPLINARY SCIENCES | BIALLELIC MUTATIONS | DNA-REPAIR | PALB2 | NONSENSE MUTATION | BRCA2 protein | BRCA1 protein | Genes | Menopause | Hormone replacement therapy | Breast cancer | Mutation | Health risk assessment | Fanconi syndrome | Epidemiology | Genotypes | FANCC protein
Journal Article
Journal Article
by Michailidou, Kyriaki and Lindström, Sara and Dennis, Joe and Beesley, Jonathan and Hui, Shirley and Kar, Siddhartha and Lemaçon, Auey and Soucy, Penny and Glubb, Dylan and Rostamianfar, Asha and Bolla, Manjeet K and Wang, Qin and Tyrer, Jonathan and Dicks, Ed and Lee, Anew and Wang, Zhaoming and Allen, Jamie and Keeman, Renske and Eilber, Ursula and French, Juliet D and Qing Chen, Xiao and Fachal, Laura and McCue, Karen and McCart Reed, Amy E and Ghoussaini, Maya and Carroll, Jason S and Jiang, Xia and Finucane, Hilary and Adams, Marcia and Adank, Muriel A and Ahsan, Habibul and Aittomäki, Kristiina and Anton-Culver, Hoda and Antonenkova, Natalia N and Arndt, Volker and Aronson, Kristan J and Arun, Banu and Auer, Paul L and Bacot, François and Barrdahl, Myrto and Baynes, Caroline and Beckmann, Matthias W and Behrens, Sabine and Benitez, Javier and Bermisheva, Marina and Bernstein, Leslie and Blomqvist, Carl and Bogdanova, Natalia V and Bojesen, Stig E and Bonanni, Bernardo and Børresen-Dale, Anne-Lise and Brand, Judith S and Brauch, Hiltrud and Brennan, Paul and Brenner, Hermann and Brinton, Louise and Broberg, Per and Brock, Ian W and Broeks, Annegien and Brooks-Wilson, Angela and Brucker, Sara Y and Brüning, Thomas and Burwinkel, Barbara and Butterbach, Katja and Cai, Qiuyin and Cai, Hui and Caldés, Trinidad and Canzian, Federico and Carracedo, Angel and Carter, Brian D and Castelao, Jose E and Chan, Tsun L and David Cheng, Ting-Yuan and Seng Chia, Kee and Choi, Ji-Yeob and Christiansen, Hans and Clarke, Christine L and Collée, Margriet and Conroy, Don M and Cordina-Duverger, Emilie and Cornelissen, Sten and Cox, David G and Cox, Angela and Cross, Simon S and Cunningham, Julie M and Czene, Kamila and Daly, Mary B and Devilee, Peter and Doheny, Kimberly F and Dörk, Thilo and Dos-Santos-Silva, Isabel and Dumont, Martine and Durcan, Lorraine and Dwek, Miriam and Eccles, Diana M and Ekici, Arif B and Eliassen, A. Heather and Ellberg, Carolina and Elvira, Mingajeva and Engel, Christoph and ... and KConFab AOCS Investigators and ABCTB Investigators and NBCS Collaborators and ConFab/AOCS Investigators and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Ortopedi and Uppsala universitet and Institutionen för kirurgiska vetenskaper
Nature, ISSN 0028-0836, 2017, Volume 551, Issue 7678, pp. 92 - 94
Journal Article
Lancet Oncology, The, ISSN 1470-2045, 2011, Volume 12, Issue 1, pp. 49 - 55
Journal Article
Cancer Research, ISSN 0008-5472, 08/2003, Volume 63, Issue 16, pp. 4878 - 4881
Colorectal cancer is believed to progress through an adenoma-carcinoma sequence. However, recent evidence increasingly supports the existence of an alternative... 
ASYMPTOMATIC ADULTS | CPG ISLAND METHYLATION | ONCOLOGY | PATHWAY | MICROSATELLITE INSTABILITY | RAS MUTATIONS | NEOPLASIA | HIGH-FREQUENCY | MOLECULAR CHARACTERISTICS | CANCER | GENETIC ALTERATIONS | Oncogene Proteins - genetics | Colonic Polyps - genetics | Adenoma - genetics | Colorectal Neoplasms - genetics | Humans | Hyperplasia | Female | Male | Mutation | Genes, ras | Proto-Oncogene Proteins B-raf
Journal Article
Human mutation, ISSN 1059-7794, 2011, Volume 32, Issue 4, pp. 407 - 414
Journal Article
Oncotarget, ISSN 1949-2553, 05/2018, Volume 9, Issue 38, pp. 25025 - 25033
Germline mutations in and ( ) are associated with increased risk of breast and ovarian cancer. The penetrance of breast and ovarian cancer in mutation carriers... 
Chinese population | Penetrance | Breast and ovarian cancer | BRCA1 | BRCA2
Journal Article
American Journal of Hematology, ISSN 0361-8609, 06/2019, Volume 94, Issue 6, pp. 650 - 657
The present study aimed to define a subtype of complex/monosomal karyotype (CK/MK) acute myeloid leukemia (AML) by its distinct clinical features, p53... 
MUTANT P53 | DIAGNOSIS | HEMATOLOGY | RECOMMENDATIONS | CANCER | COMPLEXITY
Journal Article
Journal Article
Oncotarget, ISSN 1949-2553, 2018, Volume 9, Issue 8, pp. 7832 - 7843
mutations are significant risk factors for hereditary breast and ovarian cancer (HBOC), its mutation frequency in HBOC of Chinese ethnicity is around 9%, in... 
BRCA1/2 | Breast cancer | Genetic testing | Mutation | Ovarian cancer
Journal Article