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Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1 - 15
Heterozygous carriers of germ-line loss-of-function variants in the DNA repair gene PALB2 are at a highly increased lifetime risk for developing breast cancer.... 
Coils | BRCA1 protein | Risk groups | Health risks | Risk | Functional analysis | Breast cancer | DNA repair | Genetic variance | Damage detection | Genetic analysis | Repair | Deoxyribonucleic acid--DNA | Cancer
Journal Article
Clinical cancer research : an official journal of the American Association for Cancer Research, ISSN 1078-0432, 09/2019
Whether endometrial cancer (EC) should be considered part of the associated Hereditary Breast and Ovarian Cancer (HBOC)-syndrome is topic of debate. We sought... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2019, Volume 56, Issue 9, pp. 581 - 589
BackgroundThe currently known breast cancer-associated single nucleotide polymorphisms (SNPs) are presently not used to guide clinical management. We explored... 
genetic screening/counselling | cancer: breast | polygenic risk score | clinical genetics | genetic epidemiology
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 09/2018, Volume 20, Issue 5, pp. 600 - 611
variant analysis in tumor tissue could streamline the referral of patients with epithelial ovarian, fallopian tube, or primary peritoneal cancer to genetic... 
CANCER PATIENTS | INHERITED MUTATIONS | HYPERMETHYLATION | PERFORMANCE | DOUBLE-BLIND | SOMATIC MUTATION | PATHOLOGY | FOUNDER MUTATIONS | MAINTENANCE THERAPY | BREAST | PHASE-2 TRIAL
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2019
Background: The currently known breast cancer-associated single nucleotide polymorphisms (SNPs) are presently not used to guide clinical management. We... 
Journal Article
Clinical cancer research : an official journal of the American Association for Cancer Research, ISSN 1078-0432, 11/2018
The elevated levels of somatic copy-number alterations (SCNAs) in a subset of high-risk endometrial cancers are suggestive of defects in pathways governing... 
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 09/2019, Volume 56, Issue 9, pp. 581 - 589
BACKGROUND: The currently known breast cancer-associated single nucleotide polymorphisms (SNPs) are presently not used to guide clinical management. We... 
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2018, Volume 55, Issue 1, p. 15
Background We previously showed that the BRCA1 variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and... 
Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
Journal Article
by Antoniou, Antonis C and Wang, Xianshu and Fredericksen, Zachary S and McGuffog, Lesley and Tarrell, Robert and Sinilnikova, Olga M and Healey, Sue and Morrison, Jonathan and Kartsonaki, Christiana and Lesnick, Timothy and Ghoussaini, Maya and Barrowdale, Daniel and Peock, Susan and Cook, Margaret and Oliver, Clare and Frost, Debra and Eccles, Diana and Evans, D. Gareth and Eeles, Ros and Izatt, Louise and Chu, Carol and Douglas, Fiona and Paterson, Joan and Stoppa-Lyonnet, Dominique and Houdayer, Claude and Mazoyer, Sylvie and Giraud, Sophie and Lasset, Christine and Remenieras, Auey and Caron, Olivier and Hardouin, Agnès and Berthet, Pascaline and Hogervorst, Frans B. L and Rookus, Matti A and Jager, Agnes and van den Ouweland, Ans and Hoogerbrugge, Nicoline and van der Luijt, Rob B and Meijers-Heijboer, Hanne and Gómez García, Encarna B and Devilee, Peter and Vreeswijk, Maaike P. G and Lubinski, Jan and Jakubowska, Anna and Gronwald, Jacek and Huzarski, Tomasz and Byrski, Tomasz and Górski, Bohdan and Cybulski, Cezary and Spurdle, Amanda B and Holland, Helene and Goldgar, David E and John, Esther M and Hopper, John L and Southey, Melissa and Buys, Sauna S and Daly, Mary B and Terry, Mary-Beth and Schmutzler, Rita K and Wappenschmidt, Barbara and Engel, Christoph and Meindl, Alfons and Preisler-Adams, Sabine and Arnold, Norbert and Niederacher, Dieter and Sutter, Christian and Domchek, Susan M and Nathanson, Katherine L and Rebbeck, Timothy and Blum, Joanne L and Piedmonte, Marion and Roiguez, Gustavo C and Wakeley, Katie and Boggess, John F and Basil, Jack and Blank, Stephanie V and Friedman, Eitan and Kaufman, Bella and Laitman, Yael and Milgrom, Roni and Anulis, Irene L and Glendon, Gord and Ozcelik, Hilmi and Kirchhoff, Tomas and Vijai, Joseph and Gaudet, Mia M and Altshuler, David and Guiducci, Candace and Loman, Niklas and Harbst, Katja and Rantala, Johanna and Ehrencrona, Hans and Gerdes, Anne-Marie and Thomassen, Mads and Sunde, Lone and Peterlongo, Paolo and Manoukian, Siranoush and Bonanni, Bernardo and Viel, Alessana and Radice, Paolo and ... and KConFab and EMBRACE and GEMO Study Collaborators and GENICA and MOD SQUAD and HEBON and SWE-BRCA and kConFab and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för genetik och patologi and Uppsala universitet
Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 885 - 892
Journal Article
Human Mutation, ISSN 1059-7794, 11/2012, Volume 33, Issue 11, pp. 1526 - 1537
Journal Article
Journal Article
Journal Article