Genetic predisposition to ductal carcinoma in situ of the breast
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Genetic predisposition to ductal carcinoma in situ of the breast. / 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.
In: BREAST CANCER RES, Vol. 18, No. 1, 2016, p. 22.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Genetic predisposition to ductal carcinoma in situ of the breast
AU - Petridis, Christos
AU - Brook, Mark N
AU - Shah, Vandna
AU - Kohut, Kelly
AU - Gorman, Patricia
AU - Caneppele, Michele
AU - Levi, Dina
AU - Papouli, Efterpi
AU - Orr, Nick
AU - Cox, Angela
AU - Cross, Simon S
AU - Dos-Santos-Silva, Isabel
AU - Peto, Julian
AU - Swerdlow, Anthony
AU - Schoemaker, Minouk J
AU - Bolla, Manjeet K
AU - Wang, Qin
AU - Dennis, Joe
AU - Michailidou, Kyriaki
AU - Benitez, Javier
AU - González-Neira, Anna
AU - Tessier, Daniel C
AU - Vincent, Daniel
AU - Li, Jingmei
AU - Figueroa, Jonine
AU - Kristensen, Vessela
AU - Borresen-Dale, Anne-Lise
AU - Soucy, Penny
AU - Simard, Jacques
AU - Milne, Roger L
AU - Giles, Graham G
AU - Margolin, Sara
AU - Lindblom, Annika
AU - Brüning, Thomas
AU - Brauch, Hiltrud
AU - Southey, Melissa C
AU - Hopper, John L
AU - Dörk, Thilo
AU - Bogdanova, Natalia V
AU - Kabisch, Maria
AU - Hamann, Ute
AU - Schmutzler, Rita K
AU - Meindl, Alfons
AU - Brenner, Hermann
AU - Arndt, Volker
AU - Winqvist, Robert
AU - Pylkäs, Katri
AU - Fasching, Peter A
AU - Beckmann, Matthias W
AU - Lubinski, Jan
AU - Jakubowska, Anna
AU - Mulligan, Anna Marie
AU - Andrulis, Irene L
AU - Tollenaar, Rob A E M
AU - Devilee, Peter
AU - Le Marchand, Loic
AU - Haiman, Christopher A
AU - Mannermaa, Arto
AU - Kosma, Veli-Matti
AU - Radice, Paolo
AU - Peterlongo, Paolo
AU - Marme, Frederik
AU - Burwinkel, Barbara
AU - van Deurzen, Carolien H M
AU - Hollestelle, Antoinette
AU - Miller, Nicola
AU - Kerin, Michael J
AU - Lambrechts, Diether
AU - Floris, Giuseppe
AU - Wesseling, Jelle
AU - Flyger, Henrik
AU - Bojesen, Stig E
AU - Yao, Song
AU - Ambrosone, Christine B
AU - Chenevix-Trench, Georgia
AU - Truong, Thérèse
AU - Guénel, Pascal
AU - Rudolph, Anja
AU - Chang-Claude, Jenny
AU - Nevanlinna, Heli
AU - Blomqvist, Carl
AU - Czene, Kamila
AU - Brand, Judith S
AU - Olson, Janet E
AU - Couch, Fergus J
AU - Dunning, Alison M
AU - Hall, Per
AU - Easton, Douglas F
AU - Pharoah, Paul D P
AU - Pinder, Sarah E
AU - Schmidt, Marjanka K
AU - Tomlinson, Ian
AU - Roylance, Rebecca
AU - García-Closas, Montserrat
AU - Sawyer, Elinor J
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
U2 - 10.1186/s13058-016-0675-7
DO - 10.1186/s13058-016-0675-7
M3 - SCORING: Journal article
C2 - 26884359
VL - 18
SP - 22
JO - BREAST CANCER RES
JF - BREAST CANCER RES
SN - 1465-5411
IS - 1
ER -