Citations 5
Gene‐panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication
Toiminen, H., Kvist, Anders , Törngren, Therese , Blomqvist, Carl , Couch, F.J., Aittomäki, Kristiina , Pelttari, L M , Nevanlinna, H , Pelttari, Liisa M. , Shimelis, Hussein , Borg, Alexander , Bützow, Ralf C. , Nevanlinna, Heli
Clinical Genetics | August 12, 2017 | Volume: 93 | Issue: 3 | Pages: 595-602
Gene‐panel sequencing allows comprehensive analysis of multiple genes simultaneously and is now routinely used in clinical mutation testing of high‐risk breast and ovarian cancer patients. However, only BRCA1 and BRCA2 are often analyzed also for large genomic changes. Here, we have analyzed 10 clinically relevant susceptibility genes in 95 breast or ovarian cancer patients with gene‐panel sequencing including also copy number variants (CNV) analysis for genomic changes. We identified 12 different pathogenic BRCA1, BRCA2, TP53, PTEN, CHEK2, or RAD51C mutations in 18 of 95 patients (19%). BRCA1/2 mutations were observed in 8 patients (8.4%) and CHEK2 protein‐truncating mutations in 7 patients (7.4%). In addition, we identified a novel duplication encompassing most of the RAD51C gene. We further genotyped the duplication in breast or ovarian cancer families (n = 1149), in unselected breast (n = 1729) and ovarian cancer cohorts (n = 553), and in population controls (n = 1273). Seven additional duplication carries were observed among cases but none among controls. The duplication associated with ovarian cancer risk (3/590 of all ovarian cancer patients, 0.5%, P = .032 compared with controls) and was found to represent a large fraction of all identified RAD51C mutations in the Finnish population. Our data emphasizes the importance of comprehensive mutation analysis including CNV detection in all the relevant genes.
SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival
Jamshidi, Maral, Investigators, kConFab, Fagerholm, Rainer, Khan, Sofia , Aittomäki, Kristiina , Darabi, Hatef, Li, Jingmei , Andrulis, Irene L. , Chang‐Claude, Jenny, Devilee, Peter , Fasching, Peter A. , Michailidou, Kyriaki , Bolla, Manjeet K. , Wang, Qin, Guo, Qi , Rhenius, Valerie , Cornelissen, Sten , Knight, Julia A. , Loehberg, Christian R. , Burwinkel, Barbara , Hopper, John L. , Southey, Melissa C. , Bojesen, Stig E. , Flyger, Henrik, Brenner, Hermann , Holleczek, Bernd , Margolin, Sara , Mannermaa, Arto, Kosma, Veli‐Matti, Dyck, Laurien Van , Nevelsteen, Ines, Giles, Graham G. , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Winqvist, Robert , Pylkäs, Katri , Tollenaar, Rob A.�E.�M. , García‐Closas, Montserrat , Figueroa, Jonine D. , Hooning, Maartje J. , Cox, Angela , Cross, Simon S. , Simard, Jacques , Dunning, Alison M. , Easton, Douglas F. , Blomqvist, Carl , Schmidt, Marjanka K. , Durocher, Francine , Thorne, Heather , Investigators, kConFab, Czene, Kamila , Dennis, Joe , Wang, Qin, Rudolph, Anja , Marmé, Frederik , Mannermaa, Arto, Couch, Fergus J. , Olson, Janet E. , Hooning, Maartje J. , Martens, John W.M. , Pharoah, Paul D.P. , Hall, Per N , Nevanlinna, Heli , Giles, Graham G , Southey, Melissa C , Dunning, Alison M , Brenner, Hermann , Cox, Angela , Li, Jingmei , García-Closas, Montserrat , Schmidt, Marjanka K , Michailidou, Kyriaki , Simard, Jacques , Figueroa, Jonine D , Pylkäs, Katri , Devilee, Peter , Bojesen, Stig E , Mclean, Catriona
Oncotarget | September 29, 2015 | Volume: 6 | Issue: 35 | Pages: 37979-37994
Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer
Kiiski, Johanna I. , Pelttari, Liisa M. , Khan, Sofia , Freysteinsdóttir, Edda Sigríður, Reynisdóttir, Inga , Hart, Steven N. , Shimelis, Hermela , Vilske, Sara, Kallioniemi, Anne , Schleutker, Johanna , Leminen, Arto , Blomqvist, Carl , Barkardóttir, Rósa B. , Aittomäki, Kristiina , Nevanlinna, Heli , Bützow, Ralf C. , Couch, Fergus J. , Pelttari, L M , Nevanlinna, H , Schleutker, Johanna , Hart, Steven N , Shimelis, Hermela
Proceedings of the National Academy of Sciences | October 6, 2014 | Volume: 111 | Issue: 42 | Pages: 15172-15177
Significance The major portion of hereditary breast cancer still remains unexplained, and many susceptibility loci are yet to be found. Exome sequencing of 24 high-risk familial BRCA1/2 -negative breast cancer patients and further genotyping of a large sample set of breast/ovarian cancer cases and controls was used to discover previously unidentified susceptibility alleles and genes. A significant association of a FANCM nonsense mutation with breast cancer, especially triple-negative breast cancer, identifies FANCM as a breast cancer susceptibility gene. Identification of such risk alleles is expected to improve cancer risk assessment for breast cancer patients and families, and may lead to improvements in the prevention, early diagnosis, and treatment of cancer.
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11
Siddiq, Afshan , Chen, Gary K., Lindström, Sara, Eccles, Diana , Millikan, Robert C., Michailidou, Kyriaki , Beckmann, Lars , Aittomäki, Kristiina , Apicella, Carmel, Investigators, Australian Breast Cancer Tissue Bank, Baglietto, Laura , Bandera, Elisa V. , Beckmann, Matthias W. , Berg, Christine D. , Blomqvist, Carl , Brauch, Hiltrud , Brinton, Louise A. , Bui, Minh , Buring, Julie E. , Campa, Daniele , Carpenter, Jane, Chang‐Claude, Jenny, Chen, Constance, Clavel-Chapelon, Françoise, Cox, Angela , Cross, Simon S. , Czene, Kamila , Deming, Sandra L., Diasio, Robert B. , Diver, W. Ryan , Dunning, Alison M. , Durcan, Lorraine , Ekici, Arif B. , Fasching, Peter A. , Study, Familial Breast Cancer, Fejerman, Laura , Figueroa, Jonine D. , Flesch‐Janys, Dieter, Gaudet, Mia M., Gerty, Susan M. , Rodriguez‐Gil, Jorge L. , Giles, Graham G. , Gils, Carla H. van , Graham, Nikki , Greco, Dario , Hankinson, Susan E. , Hartmann, Arndt, Hein, Rebecca, Heinz, Judith , Hoover, Robert N. , Hu, Jennifer J. , Huntsman, Scott , Irwanto, Astrid , Jacobs, Kevin B. , John, Esther M. , Justenhoven, Christina , Kolonel, Laurence N. , Coetzee, Gerhard A. , Lathrop, Mark, Lee, I‐Min , Lesnick, Timothy G. , Lichtner, Peter , Liu, Jianjun , Lund, Eiliv , Makalic, Enes , Martin, Nicholas G. , McLean, Catriona , Meijers‐Heijboer, Hanne , Meindl, Alfons , Miron, Penelope , Montgomery, Grant W. , Müller‐Myhsok, Bertram , Nickels, Stefan , Nyante, Sarah J. , Olswold, Curtis, Overvad, Kim , Palli, Domenico , Park, Daniel J. , Palmer, Julie R. , Peto, Julian , Rahman, Nazneen , Rivadeneira, Fernando , Schmutzler, Rita K. , Slager, Susan, Southey, Melissa C. , Stevens, Kristen N., Sinn, Hans‐Peter , Ross, Eric A. , Ríboli, Elio , Schumacher, Fredrick R. , Severi, Gianluca , Stone, Jennifer , Sund, Malin , Tapper, William , Thun, Michael J., Travis, Ruth C. , Turnbull, Clare , Uitterlinden, André G. , Waisfisz, Quinten , Wang, Zhaoming , Weaver, JoEllen , Schulz-Wendtland, Rüdiger, Nevanlinna, Heli , Easton, Douglas F., Hunter, David J. , Henderson, Brian E., García‐Closas, Montserrat , Kraft, Peter , Haiman, Christopher A. , Vachon, Celine M. , Zheng, Wei , Purrington, Kristen S. , Couch, Fergus J. , Stram, Daniel O. , Rhie, Suhn K. , Ambrosone, Christine B. , Amiano, Pilar , Investigators, Australian Breast Cancer Tissue Bank, Bernstein, Leslie , Bui, Minh , Buys, Saundra S. , Chasman, Daniel I. , Study, Familial Breast Cancer, Feigelson, Heather Spencer , Fletcher, Olivia , Godwin, Andrew K. , Hall, Per N , Hankinson, Susan E. , Hopper, John L. , Ingles, Sue A. , Isaacs, Claudine , Kaaks, Rudolf , Marchand, Loı̈c Le , Lee, Adam M. , Meindl, Alfons , Monroe, Kristine R. , Pathak, Harsh B. , Pharoah, Paul D.P. , Schmidt, Daniel F. , Press, Michael F. , Ridker, Paul M. , dos‐Santos‐Silva, Isabel , Wang, Xianshu , Wilkens, Lynne R. , Berg, David Van Den , Zheng, Wei , Ziegler, Regina G. , Ziv, Elad , Chanock, Stephen Jacob , Vachon, Celine M. , Nevanlinna, H , Giles, Graham G , Eccles, Diana , John, Esther M , Palli, Domenico , Southey, Melissa C , Martin, Nicholas G , Sinn, Peter , Travis, Ruth C , Wang, Zhaoming , Dunning, Alison M , Cox, Angela , García-Closas, Montserrat , Severi, Gianluca , Makalic, Enes , Ekici, Arif B , Michailidou, Kyriaki , Palmer, Julie R , Kraft, Peter , Zheng, Wei , Figueroa, Jonine D , Nyante, Sarah , Czene, Kamila , Stone, Jennifer , Riboli, Elio , Sund, Malin , Baglietto, Laura , Purrington, Kristen S , Mclean, Catriona , Brauch, Hiltrud , Liu, Jing , Bandera, Elisa V.
Human Molecular Genetics | September 14, 2012 | Volume: 21 | Issue: 24 | Pages: 5373-5384
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
Cox, David G. , Simard, Jacques , Sinnett, Daniel , Hamdi, Yosr , Soucy, Penny, Ouimet, Manon , Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley , Healey, Sue, Greene, Mark H. , Mai, Phuong L., Andrulis, Irene L. , Network, Ontario Cancer Genetics, Thomassen, Mads , Gerdes, Anne‐Marie , Caligo, Maria A. , Friedman, Eitan , Laitman, Yael , Paluch, Shani Shimon, Borg, Åke , Karlsson, Per , Askmalm, Marie Stenmark, Bustinza, Gisela Barbany, Collaborators, SWE-BRCA, Nathanson, Katherine L. , Rebbeck, Timothy R., Hamann, Ute, Rookus, Matti A. , Ouweland, Ans M.W. van den, Ausems, Margreet G.E.M. , Aalfs, Cora M. , Gille, Hans J. J. P., HEBON, EMBRACE, Peock, Susan, Frost, Debra, Evans, D. 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Human Molecular Genetics | September 3, 2011 | Volume: 20 | Issue: 23 | Pages: 4732-4747