Genetic predisposition to ductal carcinoma in situ of the breast

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Petridis , C , Brook , M N , Shah , V , Kohut , K , Gorman , P , Caneppele , M , Levi , D , Papouli , E , Orr , N , Cox , A , Cross , S S , dos-Santos-Silva , I , Peto , J , Swerdlow , A , Schoemaker , M J , Bolla , M K , Wang , Q , Dennis , J , Michailidou , K , Benitez , J , Gonzalez-Neira , A , Tessier , D C , Vincent , D , Li , J , Figueroa , J , Kristensen , V , Borresen-Dale , A-L , Soucy , P , Simard , J , Milne , R L , Giles , G G , Margolin , S , Lindblom , A , Bruening , T , Brauch , H , Southey , M C , Hopper , J L , Doerk , T , Bogdanova , N V , Kabisch , M , Hamann , U , Schmutzler , R K , Meindl , A , Brenner , H , Arndt , V , Winqvist , R , Pylkas , K , Fasching , P A , Beckmann , M W , Lubinski , J , Jakubowska , A , Mulligan , A M , Andrulis , I L , Tollenaar , R A E M , Devilee , P , Le Marchand , L , Haiman , C A , Mannermaa , A , Kosma , V-M , Radice , P , Peterlongo , P , Marme , F , Burwinkel , B , van Deurzen , C H M , Hollestelle , A , Miller , N , Kerin , M J , Lambrechts , D , Floris , G , Wesseling , J , Flyger , H , Bojesen , S E , Yao , S , Ambrosone , C B , Chenevix-Trench , G , Truong , T , Guenel , P , Rudolph , A , Chang-Claude , J , Nevanlinna , H , Blomqvist , C , Czene , K , Brand , J S , Olson , J E , Couch , F J , Dunning , A M , Hall , P , Easton , D F , Pharoah , P D P , Pinder , S E , Schmidt , M K , Tomlinson , I , Roylance , R , Garcia-Closas , M & Sawyer , E J 2016 , ' Genetic predisposition to ductal carcinoma in situ of the breast ' Breast Cancer Research , vol. 18 , 22 . DOI: 10.1186/s13058-016-0675-7

Title: Genetic predisposition to ductal carcinoma in situ of the breast
Author: 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; Gonzalez-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; Bruening, Thomas; Brauch, Hiltrud; Southey, Melissa C.; Hopper, John L.; Doerk, Thilo; Bogdanova, Natalia V.; Kabisch, Maria; Hamann, Ute; Schmutzler, Rita K.; Meindl, Alfons; Brenner, Hermann; Arndt, Volker; Winqvist, Robert; Pylkas, 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, Therese; Guenel, 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; Garcia-Closas, Montserrat; Sawyer, Elinor J.
Contributor: University of Helsinki, Department of Obstetrics and Gynegology
University of Helsinki, Department of Oncology
Date: 2016-02-17
Language: eng
Number of pages: 15
Belongs to series: Breast Cancer Research
ISSN: 1465-542X
URI: http://hdl.handle.net/10138/208096
Abstract: 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.
Subject: Ductal carcinoma in situ
Association study
Genetic predisposition
Common variants
GENOME-WIDE ASSOCIATION
RISK-FACTORS
SUSCEPTIBILITY LOCI
CANCER RISK
METAANALYSIS
VARIANTS
GRADE
DCIS
3122 Cancers
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