Petridis, Christos, Brook, Mark N., Shah, Vandna, Kohut, Kelly, Gorman, Patricia, Caneppele, Michele, Levi, Dina, Papouli, Efterpi, Orr, Nick, Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., dos-Santos-Silva, Isabel, Peto, Julian, Swerdlow, Anthony ORCID: 0000-0001-5550-4159, Schoemaker, Minouk J., Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Benitez, Javier, Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Tessier, Daniel C., Vincent, Daniel, Li, Jingmei ORCID: 0000-0001-8587-7511, 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 ORCID: 0000-0001-7531-2736, Southey, Melissa C., Hopper, John L., Doerk, Thilo, Bogdanova, Natalia V., Kabisch, Maria, Hamann, Ute, Schmutzler, Rita K., Meindl, Alfons, Brenner, Hermann ORCID: 0000-0002-6129-1572, Arndt, Volker ORCID: 0000-0001-9320-8684, Winqvist, Robert, Pylkas, Katri ORCID: 0000-0002-2449-0521, Fasching, Peter A., Beckmann, Matthias W., Lubinski, Jan ORCID: 0000-0003-2931-3003, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Mulligan, Anna Marie ORCID: 0000-0002-7239-5297, Andrulis, Irene L., Tollenaar, Rob A. E. M., Devilee, Peter ORCID: 0000-0002-8023-2009, Le Marchand, Loic, Haiman, Christopher A., Mannermaa, Arto, Kosma, Veli-Matti, Radice, Paolo ORCID: 0000-0001-6298-4111, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Marme, Frederik, Burwinkel, Barbara, van Deurzen, Carolien H. M., Hollestelle, Antoinette ORCID: 0000-0003-1166-1966, Miller, Nicola, Kerin, Michael J., Lambrechts, Diether ORCID: 0000-0002-3429-302X, Floris, Giuseppe, Wesseling, Jelle ORCID: 0000-0002-8940-2676, Flyger, Henrik, Bojesen, Stig E., Yao, Song ORCID: 0000-0001-9442-1313, Ambrosone, Christine B., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Truong, Therese, Guenel, Pascal ORCID: 0000-0002-8359-518X, Rudolph, Anja, Chang-Claude, Jenny, Nevanlinna, Heli, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Czene, Kamila, Brand, Judith S. ORCID: 0000-0002-3720-1274, 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 and Sawyer, Elinor J. (2016). Genetic predisposition to ductal carcinoma in situ of the breast. Breast Cancer Res., 18. LONDON: BIOMED CENTRAL LTD. ISSN 1465-5411

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Petridis, ChristosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brook, Mark N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shah, VandnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kohut, KellyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gorman, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caneppele, MicheleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Levi, DinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Papouli, EfterpiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Orr, NickUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cox, AngelaUNSPECIFIEDorcid.org/0000-0002-5138-1099UNSPECIFIED
Cross, Simon S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
dos-Santos-Silva, IsabelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peto, JulianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Swerdlow, AnthonyUNSPECIFIEDorcid.org/0000-0001-5550-4159UNSPECIFIED
Schoemaker, Minouk J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bolla, Manjeet K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, QinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dennis, JoeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Michailidou, KyriakiUNSPECIFIEDorcid.org/0000-0001-7065-1237UNSPECIFIED
Benitez, JavierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez-Neira, AnnaUNSPECIFIEDorcid.org/0000-0002-5421-2020UNSPECIFIED
Tessier, Daniel C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vincent, DanielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Li, JingmeiUNSPECIFIEDorcid.org/0000-0001-8587-7511UNSPECIFIED
Figueroa, JonineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kristensen, VesselaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borresen-Dale, Anne-LiseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soucy, PennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simard, JacquesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milne, Roger L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Graham G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Margolin, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindblom, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bruening, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brauch, HiltrudUNSPECIFIEDorcid.org/0000-0001-7531-2736UNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Doerk, ThiloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bogdanova, Natalia V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kabisch, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hamann, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brenner, HermannUNSPECIFIEDorcid.org/0000-0002-6129-1572UNSPECIFIED
Arndt, VolkerUNSPECIFIEDorcid.org/0000-0001-9320-8684UNSPECIFIED
Winqvist, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pylkas, KatriUNSPECIFIEDorcid.org/0000-0002-2449-0521UNSPECIFIED
Fasching, Peter A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beckmann, Matthias W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lubinski, JanUNSPECIFIEDorcid.org/0000-0003-2931-3003UNSPECIFIED
Jakubowska, AnnaUNSPECIFIEDorcid.org/0000-0002-5650-0501UNSPECIFIED
Mulligan, Anna MarieUNSPECIFIEDorcid.org/0000-0002-7239-5297UNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tollenaar, Rob A. E. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Devilee, PeterUNSPECIFIEDorcid.org/0000-0002-8023-2009UNSPECIFIED
Le Marchand, LoicUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haiman, Christopher A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mannermaa, ArtoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kosma, Veli-MattiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radice, PaoloUNSPECIFIEDorcid.org/0000-0001-6298-4111UNSPECIFIED
Peterlongo, PaoloUNSPECIFIEDorcid.org/0000-0001-6951-6855UNSPECIFIED
Marme, FrederikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burwinkel, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Deurzen, Carolien H. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hollestelle, AntoinetteUNSPECIFIEDorcid.org/0000-0003-1166-1966UNSPECIFIED
Miller, NicolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kerin, Michael J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lambrechts, DietherUNSPECIFIEDorcid.org/0000-0002-3429-302XUNSPECIFIED
Floris, GiuseppeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wesseling, JelleUNSPECIFIEDorcid.org/0000-0002-8940-2676UNSPECIFIED
Flyger, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bojesen, Stig E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yao, SongUNSPECIFIEDorcid.org/0000-0001-9442-1313UNSPECIFIED
Ambrosone, Christine B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDorcid.org/0000-0002-1878-2587UNSPECIFIED
Truong, ThereseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guenel, PascalUNSPECIFIEDorcid.org/0000-0002-8359-518XUNSPECIFIED
Rudolph, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chang-Claude, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blomqvist, CarlUNSPECIFIEDorcid.org/0000-0003-3041-1938UNSPECIFIED
Czene, KamilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brand, Judith S.UNSPECIFIEDorcid.org/0000-0002-3720-1274UNSPECIFIED
Olson, Janet E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hall, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pharoah, Paul D. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pinder, Sarah E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, Marjanka K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tomlinson, IanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roylance, RebeccaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Closas, MontserratUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sawyer, Elinor J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-284415
DOI: 10.1186/s13058-016-0675-7
Journal or Publication Title: Breast Cancer Res.
Volume: 18
Date: 2016
Publisher: BIOMED CENTRAL LTD
Place of Publication: LONDON
ISSN: 1465-5411
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENOME-WIDE ASSOCIATION; RISK-FACTORS; SUSCEPTIBILITY LOCI; CANCER RISK; METAANALYSIS; VARIANTS; GRADE; DCISMultiple languages
OncologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/28441

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