X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (59) 59
index medicus (49) 49
mutation (39) 39
female (38) 38
genetics & heredity (28) 28
genes (26) 26
oncology (23) 23
adult (22) 22
genetic predisposition to disease (22) 22
genetics (21) 21
male (21) 21
middle aged (20) 20
ovarian cancer (20) 20
breast cancer (19) 19
medical and health sciences (19) 19
medicin och hälsovetenskap (19) 19
mutations (19) 19
lynch syndrome (17) 17
cancer (16) 16
genetic aspects (16) 16
risk (16) 16
risk factors (16) 16
variants (16) 16
colorectal cancer (15) 15
medical genetics (15) 15
aged (14) 14
animals (14) 14
breast neoplasms - genetics (14) 14
mlh1 (14) 14
genotype (13) 13
journal article (13) 13
pms2 (13) 13
mice (12) 12
research (12) 12
breast-cancer (11) 11
families (11) 11
germ-line mutation (11) 11
nonpolyposis colorectal-cancer (11) 11
women (11) 11
article (10) 10
biochemistry & molecular biology (10) 10
clinical medicine (10) 10
deoxyribonucleic acid--dna (10) 10
family-history (10) 10
gene (10) 10
gene mutations (10) 10
klinisk medicin (10) 10
mismatch repair (10) 10
modifiers (10) 10
ovarian neoplasms - genetics (10) 10
alleles (9) 9
cancer and oncology (9) 9
cancer och onkologi (9) 9
carriers (9) 9
classification (9) 9
genetic counseling (9) 9
genetic testing (9) 9
germline mutations (9) 9
medicinsk genetik (9) 9
proteins (9) 9
young adult (9) 9
adolescent (8) 8
age (8) 8
basic medicine (8) 8
brca1 protein - genetics (8) 8
brca2 protein - genetics (8) 8
cohort studies (8) 8
colorectal neoplasms - genetics (8) 8
dna mutational analysis (8) 8
endocrine system diseases (8) 8
genes, brca2 (8) 8
genome-wide association (8) 8
health aspects (8) 8
heterozygote (8) 8
medicinska och farmaceutiska grundvetenskaper (8) 8
metaanalysis (8) 8
ovarian-cancer (8) 8
polymorphism, single nucleotide (8) 8
susceptibility (8) 8
tumors (8) 8
aged, 80 and over (7) 7
analysis (7) 7
brca1 protein (7) 7
cancer research (7) 7
colorectal neoplasms, hereditary nonpolyposis - genetics (7) 7
genes, brca1 (7) 7
genetic screening (7) 7
genome-wide association study (7) 7
genomes (7) 7
identification (7) 7
immunohistochemistry (7) 7
lipoproteins, vldl - metabolism (7) 7
microsatellite instability (7) 7
neoplastic syndromes, hereditary - genetics (7) 7
netherlands (7) 7
age of onset (6) 6
brca2 protein (6) 6
breast (6) 6
cancer risk (6) 6
care and treatment (6) 6
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Medical Genetics, ISSN 0022-2593, 01/2018, Volume 55, Issue 1, pp. 15 - 20
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 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 and Lophatananon, Artitaya and Muir, K and Beckmann, Matthias 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
PL o S Genetics (Online), ISSN 1553-7390, 05/2017, Volume 13, Issue 5, pp. e1006765 - e1006765
Journal Article
Journal Article
by Bojesen, Stig E and Pooley, Karen A and Johnatty, Sharon E and Beesley, Jonathan and Michailidou, Kyriaki and Tyrer, Jonathan P and Edwards, Stacey L and Pickett, Hilda A and Shen, Howard C and Smart, Chanel E and Hillman, Kristine M and Mai, Phuong L and Lawrenson, Kate and Stutz, Michael D and Lu, Yi and Karevan, Rod and Woods, Nicholas and Johnston, Rebecca L and French, Juliet D and Chen, Xiaoqing and Weischer, Maren and Nielsen, Sune F and Maranian, Melanie J and Ghoussaini, Maya and Ahmed, Shahana and Baynes, Caroline and Bolla, Manjeet K and Wang, Qin and Dennis, Joe and McGuffog, Lesley and Barrowdale, Daniel and Lee, Anew and Healey, Sue and Lush, Michael and Tessier, Daniel C and Vincent, Daniel and Bacot, Françis and Vergote, Ignace and Lambrechts, Sanina and Despierre, Evelyn and Risch, Harvey A and González-Neira, Anna and Rossing, Mary Anne and Pita, Guillermo and Doherty, Jennifer A and Alvarez, Nuria and Larson, Melissa C and Fridley, Brooke L and Schoof, Nils and Chang-Claude, Jenny and Cicek, Mine S and Peto, Julian and Kalli, Kimberly R and Broeks, Annegien and Armasu, Sebastian M and Schmidt, Marjanka K and Braaf, Linde M and Winterhoff, Boris and Nevanlinna, Heli and Konecny, Gottfried E and Lambrechts, Diether and Rogmann, Lisa and Guénel, Pascal and Teoman, Attila and Milne, Roger L and Garcia, Joaquin J and Cox, Angela and Shridhar, Vijayalakshmi and Burwinkel, Barbara and Marme, Frederik and Hein, Rebecca and Sawyer, Elinor J and Haiman, Christopher A and Wang-Gohrke, Shan and Anulis, Irene L and Moysich, Kirsten B and Hopper, John L and Odunsi, Kunle and Lindblom, Annika and Giles, Graham G and Brenner, Hermann and Simard, Jacques and Lurie, Galina and Fasching, Peter A and Carney, Michael E and Radice, Paolo and Wilkens, Lynne R and Swerdlow, Anthony and Goodman, Marc T and Brauch, Hiltrud and Garcia-Closas, Montserrat and Hillemanns, Peter and Winqvist, Robert and Dürst, Matthias and Devilee, Peter and Runnebaum, Ingo and Jakubowska, Anna and Lubinski, Jan and Mannermaa, Arto and Butzow, Ralf and ... and Gene Environm Interactimi Breast and Kathleen Cuningham Fdn Consortium and Australian Ovarian Canc Study and Epidemiological Study BRCA1 and Hereditary Breast Ovarian Canc Res and Genetic Modifiers Canc Risk BRCA1 and Australian Canc Study and Swedish Breast Canc Study SWE-BRCA and The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) and Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) and Gene Environment Interaction and Breast Cancer (GENICA) and Swedish Breast Cancer Study (SWE-BRCA) and Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE) and Australian Ovarian Cancer Study and Australian Cancer Study and Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) and Medicinska fakulteten and Umeå universitet and Institutionen för strålningsvetenskaper
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 4, pp. 371 - 384
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 05/2012, Volume 18, Issue 10, pp. 2828 - 2837
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2017, Volume 19, Issue 6, pp. 667 - 675
PURPOSE: Copy-number variation is a common source of genomic variation and an important genetic cause of disease. Microarray-based analysis of copy-number... 
read depth | exome sequencing | structural variation | Copy-number variants | diagnostic yield | QT SYNDROME | copy-number variants | SEVERE INTELLECTUAL DISABILITY | DEVELOPMENTAL DELAY | MODEL | POLYMORPHISM | CONGENITAL-ANOMALIES | GENOME | INSERTIONS | GENETICS & HEREDITY | MAP | Original
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2015, Volume 23, Issue 8, pp. 1080 - 1084
Journal Article
Journal of the National Cancer Institute, ISSN 0027-8874, 05/2019
Women with epithelial ovarian cancer (OC) have a higher chance to benefit from PARP inhibitor (PARPi) therapy if their tumor has a somatic or hereditary... 
Journal Article
by Phelan, Catherine M and Kuchenbaecker, Karoline B and Tyrer, Jonathan P and Kar, Siddhartha P and Lawrenson, Kate and Winham, Stacey J and Dennis, Joe and Pirie, Ailith and Riggan, Marjorie J and Chornokur, Ganna and Earp, Madalene A and Lyra, Paulo C and Lee, Janet M and Coetzee, Simon and Beesley, Jonathan and McGuffog, Lesley and Soucy, Penny and Dicks, Ed and Lee, Anew and Barrowdale, Daniel and Lecarpentier, Julie and Leslie, Goska and Aalfs, Cora M and Aben, Katja K. H and Adams, Marcia and Adlard, Julian and Anulis, Irene L and Anton-Culver, Hoda and Antonenkova, Natalia and Aravantinos, Gerasimos and Arnold, Norbert and Arun, Banu K and Arver, Brita and Azzollini, Jacopo and Balmaña, Judith and Banerjee, Susana N and Barjhoux, Laure and Barkardottir, Rosa B and Bean, Yukie and Beckmann, Matthias W and Beeghly-Fadiel, Alicia and Benitez, Javier and Bermisheva, Marina and Bernardini, Marcus Q and Birrer, Michael J and Bjorge, Line and Black, Amanda and Blankstein, Kenneth and Blok, Marinus J and Bodelon, Clara and Bogdanova, Natalia and Bojesen, Anders and Bonanni, Bernardo and Borg, Åke and Bradbury, Angela R and Brenton, James D and Brewer, Carole and Brinton, Louise and Broberg, Per and Brooks-Wilson, Angela and Bruinsma, Fiona and Brunet, Joan and Buecher, Bruno and Butzow, Ralf and Buys, Sauna S and Caldes, Trinidad and Caligo, Maria A and Campbell, Ian and Cannioto, Rikki and Carney, Michael E and Cescon, Terence and Chan, Salina B and Chang-Claude, Jenny and Chanock, Stephen and Chen, Xiao Qing and Chiew, Yoke-Eng and Chiquette, Jocelyne and Chung, Wendy K and Claes, Kathleen B. M and Conner, Thomas and Cook, Linda S and Cook, Jackie and Cramer, Daniel W and Cunningham, Julie M and D'Aloisio, Aimee A and Daly, Mary B and Damiola, Francesca and Damirovna, Sakaeva Dina and Dansonka-Mieszkowska, Agnieszka and Dao, Fanny and Davidson, Rosemarie and Defazio, Anna and Delnatte, Capucine and Doheny, Kimberly F and Diez, Orland and Ding, Yuan Chun and Doherty, Jennifer Anne and Domchek, Susan M and Dorfling, Cecilia M and Dörk, Thilo and ... and KConFab Investigators and EMEMBRACE Study and GEMO Study Collaborators and OPAL Study Grp and AOCS Study Grp and HEBON Study and AOCS study group and EMBRACE Study and OPAL study group and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Ortopedi and Uppsala universitet and Institutionen för kirurgiska vetenskaper
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 5, pp. 680 - 691
Journal Article