title: Genetic predisposition to ductal carcinoma in situ of the breast creator: Petridis, Christos creator: Brook, Mark N. creator: Shah, Vandna creator: Kohut, Kelly creator: Gorman, Patricia creator: Caneppele, Michele creator: Levi, Dina creator: Papouli, Efterpi creator: Orr, Nick creator: Cox, Angela creator: Cross, Simon S. creator: dos-Santos-Silva, Isabel creator: Peto, Julian creator: Swerdlow, Anthony creator: Schoemaker, Minouk J. creator: Bolla, Manjeet K. creator: Wang, Qin creator: Dennis, Joe creator: Michailidou, Kyriaki creator: Benitez, Javier creator: González-Neira, Anna creator: Tessier, Daniel C. creator: Vincent, Daniel creator: Li, Jingmei creator: Figueroa, Jonine creator: Kristensen, Vessela creator: Borresen-Dale, Anne-Lise creator: Soucy, Penny creator: Simard, Jacques creator: Milne, Roger L. creator: Giles, Graham G. creator: Margolin, Sara creator: Lindblom, Annika creator: Brüning, Thomas creator: Brauch, Hiltrud creator: Southey, Melissa C. creator: Hopper, John L. creator: Dörk, Thilo creator: Bogdanova, Natalia V. creator: Kabisch, Maria creator: Hamann, Ute creator: Schmutzler, Rita K. creator: Meindl, Alfons creator: Brenner, Hermann creator: Arndt, Volker creator: Winqvist, Robert creator: Pylkäs, Katri creator: Fasching, Peter A. creator: Beckmann, Matthias W. creator: Lubinski, Jan creator: Jakubowska, Anna creator: Mulligan, Anna Marie creator: Andrulis, Irene L. creator: Tollenaar, Rob A. E. M. creator: Devilee, Peter creator: Le Marchand, Loic creator: Haiman, Christopher A creator: Mannermaa, Arto creator: Kosma, Veli-Matti creator: Radice, Paolo creator: Peterlongo, Paolo creator: Marme, Frederik creator: Burwinkel, Barbara creator: van Deurzen, Carolien H. M. creator: Hollestelle, Antoinette creator: Miller, Nicola creator: Kerin, Michael J. creator: Lambrechts, Diether creator: Floris, Giuseppe creator: Wesseling, Jelle creator: Flyger, Henrik creator: Bojesen, Stig E. creator: Yao, Song creator: Ambrosone, Christine B. creator: Chenevix-Trench, Georgia creator: Truong, Thérèse creator: Guénel, Pascal creator: Rudolph, Anja creator: Chang-Claude, Jenny creator: Nevanlinna, Heli creator: Blomqvist, Carl creator: Czene, Kamila creator: Brand, Judith S. creator: Olson, Janet E. creator: Couch, Fergus J. creator: Dunning, Alison M. creator: Hall, Per creator: Easton, Douglas F. creator: Pharoah, Paul D. P. creator: Pinder, Sarah E. creator: Schmidt, Marjanka K. creator: Tomlinson, Ian creator: Roylance, Rebecca creator: García-Closas, Montserrat creator: Sawyer, Elinor J. subject: ddc-610 subject: 610 Medical sciences Medicine description: Background: Ductal carcinoma in situ (DCIS) is a non-invasive form of breast cancer. It is often associated with invasive ductal carcinoma (IDC), and is considered to be a non-obligate precursor of IDC. It is not clear to what extent these two forms of cancer share low-risk susceptibility loci, or whether there are differences in the strength of association for shared loci. Methods: To identify genetic polymorphisms that predispose to DCIS, we pooled data from 38 studies comprising 5,067 cases of DCIS, 24,584 cases of IDC and 37,467 controls, all genotyped using the iCOGS chip. Results: Most (67 %) of the 76 known breast cancer predisposition loci showed an association with DCIS in the same direction as previously reported for invasive breast cancer. Case-only analysis showed no evidence for differences between associations for IDC and DCIS after considering multiple testing. Analysis by estrogen receptor (ER) status confirmed that loci associated with ER positive IDC were also associated with ER positive DCIS. Analysis of DCIS by grade suggested that two independent SNPs at 11q13.3 near CCND1 were specific to low/intermediate grade DCIS (rs75915166, rs554219). These associations with grade remained after adjusting for ER status and were also found in IDC. We found no novel DCIS-specific loci at a genome wide significance level of P < 5.0x10-8. Conclusion: In conclusion, this study provides the strongest evidence to date of a shared genetic susceptibility for IDC and DCIS. Studies with larger numbers of DCIS are needed to determine if IDC or DCIS specific loci exist. publisher: BioMed Central date: 2016 type: Article type: info:eu-repo/semantics/article type: NonPeerReviewed format: application/pdf identifier: https://archiv.ub.uni-heidelberg.de/volltextserverhttps://archiv.ub.uni-heidelberg.de/volltextserver/20285/1/13058_2016_Article_675.pdf identifier: DOI: identifier: urn:nbn:de:bsz:16-heidok-202858 identifier: Petridis, Christos ; Brook, Mark N. ; Shah, Vandna ; Kohut, Kelly ; Gorman, Patricia ; Caneppele, Michele ; Levi, Dina ; Papouli, Efterpi ; Orr, Nick ; Cox, Angela ; Cross, Simon S. ; dos-Santos-Silva, Isabel ; Peto, Julian ; Swerdlow, Anthony ; Schoemaker, Minouk J. ; Bolla, Manjeet K. ; Wang, Qin ; Dennis, Joe ; Michailidou, Kyriaki ; Benitez, Javier ; González-Neira, Anna ; Tessier, Daniel C. ; Vincent, Daniel ; Li, Jingmei ; Figueroa, Jonine ; Kristensen, Vessela ; Borresen-Dale, Anne-Lise ; Soucy, Penny ; Simard, Jacques ; Milne, Roger L. ; Giles, Graham G. ; Margolin, Sara ; Lindblom, Annika ; Brüning, Thomas ; Brauch, Hiltrud ; Southey, Melissa C. ; Hopper, John L. ; Dörk, Thilo ; Bogdanova, Natalia V. ; Kabisch, Maria ; Hamann, Ute ; Schmutzler, Rita K. ; Meindl, Alfons ; Brenner, Hermann ; Arndt, Volker ; Winqvist, Robert ; Pylkäs, Katri ; Fasching, Peter A. ; Beckmann, Matthias W. ; Lubinski, Jan ; Jakubowska, Anna ; Mulligan, Anna Marie ; Andrulis, Irene L. ; Tollenaar, Rob A. E. M. ; Devilee, Peter ; Le Marchand, Loic ; Haiman, Christopher A ; Mannermaa, Arto ; Kosma, Veli-Matti ; Radice, Paolo ; Peterlongo, Paolo ; Marme, Frederik ; Burwinkel, Barbara ; van Deurzen, Carolien H. M. ; Hollestelle, Antoinette ; Miller, Nicola ; Kerin, Michael J. ; Lambrechts, Diether ; Floris, Giuseppe ; Wesseling, Jelle ; Flyger, Henrik ; Bojesen, Stig E. ; Yao, Song ; Ambrosone, Christine B. ; Chenevix-Trench, Georgia ; Truong, Thérèse ; Guénel, Pascal ; Rudolph, Anja ; Chang-Claude, Jenny ; Nevanlinna, Heli ; Blomqvist, Carl ; Czene, Kamila ; Brand, Judith S. ; Olson, Janet E. ; Couch, Fergus J. ; Dunning, Alison M. ; Hall, Per ; Easton, Douglas F. ; Pharoah, Paul D. P. ; Pinder, Sarah E. ; Schmidt, Marjanka K. ; Tomlinson, Ian ; Roylance, Rebecca ; García-Closas, Montserrat ; Sawyer, Elinor J. (2016) Genetic predisposition to ductal carcinoma in situ of the breast. Breast Cancer Research, 18 (22). pp. 1-15. ISSN 1465-542X relation: https://archiv.ub.uni-heidelberg.de/volltextserver/20285/ rights: info:eu-repo/semantics/openAccess rights: Please see front page of the work (Sorry, Dublin Core plugin does not recognise license id) language: eng