학술논문
Genetic predisposition to in situ and invasive lobular carcinoma of the breast.
Document Type
article
Author
Elinor Sawyer; Rebecca Roylance; Christos Petridis; Mark N Brook; Salpie Nowinski; Efterpi Papouli; Olivia Fletcher; Sarah Pinder; Andrew Hanby; Kelly Kohut; Patricia Gorman; Michele Caneppele; Julian Peto; Isabel Dos Santos Silva; Nichola Johnson; Ruth Swann; Miriam Dwek; Katherine-Anne Perkins; Cheryl Gillett; Richard Houlston; Gillian Ross; Paolo De Ieso; Melissa C Southey; John L Hopper; Elena Provenzano; Carmel Apicella; Jelle Wesseling; Sten Cornelissen; Renske Keeman; Peter A Fasching; Sebastian M Jud; Arif B Ekici; Matthias W Beckmann; Michael J Kerin; Federick Marme; Andreas Schneeweiss; Christof Sohn; Barbara Burwinkel; Pascal Guénel; Therese Truong; Pierre Laurent-Puig; Pierre Kerbrat; Stig E Bojesen; Børge G Nordestgaard; Sune F Nielsen; Henrik Flyger; Roger L Milne; Jose Ignacio Arias Perez; Primitiva Menéndez; Javier Benitez; Hermann Brenner; Aida Karina Dieffenbach; Volker Arndt; Christa Stegmaier; Alfons Meindl; Peter Lichtner; Rita K Schmutzler; Magdalena Lochmann; Hiltrud Brauch; Hans-Peter Fischer; Yon-Dschun Ko; GENICA Network; Heli Nevanlinna; Taru A Muranen; Kristiina Aittomäki; Carl Blomqvist; Natalia V Bogdanova; Thilo Dörk; Annika Lindblom; Sara Margolin; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Jaana M Hartikainen; Georgia Chenevix-Trench; KConFab Investigators; Diether Lambrechts; Caroline Weltens; Erik Van Limbergen; Sigrid Hatse; Jenny Chang-Claude; Anja Rudolph; Petra Seibold; Dieter Flesch-Janys; Paolo Radice; Paolo Peterlongo; Bernardo Bonanni; Sara Volorio; Graham G Giles; Gianluca Severi; Laura Baglietto; Catriona A McLean; Christopher A Haiman; Brian E Henderson; Fredrick Schumacher; Loic Le Marchand; Jacques Simard; Mark S Goldberg; France Labrèche; Martine Dumont; Vessela Kristensen; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Saila Kauppila; Irene L Andrulis; Julia A Knight; Gord Glendon; Anna Marie Mulligan; Peter Devillee; Rob A E M Tollenaar; Caroline M Seynaeve; Mieke Kriege; Jonine Figueroa; Stephen J Chanock; Mark E Sherman; Maartje J Hooning; Antoinette Hollestelle; Ans M W van den Ouweland; Carolien H M van Deurzen; Jingmei Li; Kamila Czene; Keith Humphreys; Angela Cox; Simon S Cross; Malcolm W R Reed; Mitul Shah; Anna Jakubowska; Jan Lubinski; Katarzyna Jaworska-Bieniek; Katarzyna Durda; Anthony Swerdlow; Alan Ashworth; Nicholas Orr; Minouk Schoemaker; Fergus J Couch; Emily Hallberg; Anna González-Neira; Guillermo Pita; M Rosario Alonso; Daniel C Tessier; Daniel Vincent; Francois Bacot; Manjeet K Bolla; Qin Wang; Joe Dennis; Kyriaki Michailidou; Alison M Dunning; Per Hall; Doug Easton; Paul Pharoah; Marjanka K Schmidt; Ian Tomlinson; Montserrat Garcia-Closas
Source
PLoS Genetics, Vol 10, Iss 4, p e1004285 (2014)
Subject
Language
English
ISSN
1553-7390
1553-7404
1553-7404
Abstract
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