| Title: |
Genetic predisposition to in situ and invasive lobular carcinoma of the breast. |
| Authors: |
Sawyer, E; Roylance, R; Petridis, C; Brook, MN; Nowinski, S; Papouli, E; Fletcher, O; Pinder, S; Hanby, A; Kohut, K; Gorman, P; Caneppele, M; Peto, J; Dos Santos Silva, I; Johnson, N; Swann, R; Dwek, M; Perkins, K-A; Gillett, C; Houlston, R; Ross, G; De Ieso, P; Southey, MC; Hopper, JL; Provenzano, E; Apicella, C; Wesseling, J; Cornelissen, S; Keeman, R; Fasching, PA; Jud, SM; Ekici, AB; Beckmann, MW; Kerin, MJ; Marme, F; Schneeweiss, A; Sohn, C; Burwinkel, B; Guénel, P; Truong, T; Laurent-Puig, P; Kerbrat, P; Bojesen, SE; Nordestgaard, BG; Nielsen, SF; Flyger, H; Milne, RL; Perez, JIA; Menéndez, P; Benitez, J; Brenner, H; Dieffenbach, AK; Arndt, V; Stegmaier, C; Meindl, A; Lichtner, P; Schmutzler, RK; Lochmann, M; Brauch, H; Fischer, H-P; Ko, Y-D; GENICA Network; Nevanlinna, H; Muranen, TA; Aittomäki, K; Blomqvist, C; Bogdanova, NV; Dörk, T; Lindblom, A; Margolin, S; Mannermaa, A; Kataja, V; Kosma, V-M; Hartikainen, JM; Chenevix-Trench, G; KConFab Investigators; Lambrechts, D; Weltens, C; Van Limbergen, E; Hatse, S; Chang-Claude, J; Rudolph, A; Seibold, P; Flesch-Janys, D; Radice, P; Peterlongo, P; Bonanni, B; Volorio, S; Giles, GG; Severi, G; Baglietto, L; McLean, CA; Haiman, CA; Henderson, BE; Schumacher, F; Le Marchand, L; Simard, J; Goldberg, MS; Labrèche, F; Dumont, M; Kristensen, V; Winqvist, R; Pylkäs, K; Jukkola-Vuorinen, A; Kauppila, S; Andrulis, IL; Knight, JA; Glendon, G; Mulligan, AM; Devillee, P; Tollenaar, RAEM; Seynaeve, CM; Kriege, M; Figueroa, J; Chanock, SJ; Sherman, ME; Hooning, MJ; Hollestelle, A; van den Ouweland, AMW; van Deurzen, CHM; Li, J; Czene, K; Humphreys, K; Cox, A; Cross, SS; Reed, MWR; Shah, M; Jakubowska, A; Lubinski, J; Jaworska-Bieniek, K; Durda, K; Swerdlow, A; Ashworth, A; Orr, N; Schoemaker, M; Couch, FJ; Hallberg, E; González-Neira, A; Pita, G; Alonso, MR; Tessier, DC; Vincent, D; Bacot, F; Bolla, MK; Wang, Q; Dennis, J; Michailidou, K; Dunning, AM; Hall, P; Easton, D; Pharoah, P; Schmidt, MK; Tomlinson, I; Garcia-Closas, M |
| Contributors: |
Gibson G; Brook, Mark; Fletcher, Olivia; Houlston, Richard; Swerdlow, Anthony; Schoemaker, Minouk; Garcia-Closas, Montserrat |
| Publisher Information: |
PUBLIC LIBRARY SCIENCE |
| Publication Year: |
2026 |
| Collection: |
The Institute of Cancer Research (ICR): Publications Repository |
| Subject Terms: |
Breast Neoplasms; Carcinoma in Situ; Carcinoma; Lobular; Case-Control Studies; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Middle Aged; Polymorphism; Single Nucleotide |
| Subject Geographic: |
United States |
| Description: |
Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses identified a lobular-specific SNP at 7q34 (rs11977670, OR (95%CI) for ILC = 1.13 (1.09-1.18), P = 6.0 × 10(-10); P-het for ILC vs IDC ER+ tumors = 1.8 × 10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P |
| Document Type: |
article in journal/newspaper |
| File Description: |
Electronic-eCollection; application/pdf |
| Language: |
English |
| ISSN: |
1553-7404; 1553-7390 |
| Relation: |
ARTN e1004285; PGENETICS-D-13-02727; PLoS Genetics, 2014, 10 (4), pp. e1004285 -; https://repository.icr.ac.uk/handle/internal/7582 |
| DOI: |
10.1371/journal.pgen.1004285 |
| Availability: |
https://doi.org/10.1371/journal.pgen.1004285; https://repository.icr.ac.uk/handle/internal/7582 |
| Rights: |
http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.F5D336F4 |
| Database: |
BASE |