Genetic predisposition to ductal carcinoma in situ of the breast

Petridis C, Brook MN, Shah V, Kohut K, Gorman P, Caneppele M, Levi D, Papouli E, Orr N, Cox A, Cross SS, Dos-Santos-Silva I, Peto J, Swerdlow A, Schoemaker MJ, Bolla MK, Wang Q, Dennis J, Michailidou K, Benitez J, Gonzalez-Neira A, Tessier DC, Vincent D, Li J, Figueroa J, Kristensen V, Borresen-Dale AL, Soucy P, Simard J, Milne RL, Giles GG, Margolin S, Lindblom A, Bruening T, Brauch H, Southey MC, Hopper JL, Doerk T, Bogdanova NV, Kabisch M, Hamann U, Schmutzler RK, Meindl A, Brenner H, Arndt V, Winqvist R, Pylkas K, Fasching P, Beckmann M, Lubinski J, Jakubowska A, Mulligan AM, Andrulis IL, Tollenaar RAEM, Devilee P, Le Marchand L, Haiman CA, Mannermaa A, Kosma VM, Radice P, Peterlongo P, Marme F, Burwinkel B, Van Deurzen CHM, Hollestelle A, Miller N, Kerin MJ, Lambrechts D, Floris G, Wesseling J, Flyger H, Bojesen SE, Yao S, Ambrosone CB, Chenevix-Trench G, Truong T, Guenel P, Rudolph A, Chang-Claude J, Nevanlinna H, Blomqvist C, Czene K, Brand JS, Olson JE, Couch FJ, Dunning AM, Hall P, Easton DF, Pharoah PDP, Pinder SE, Schmidt MK, Tomlinson I, Roylance R, Garcia-Closas M, Sawyer EJ (2016)

Publication Type: Journal article

Publication year: 2016

Journal

Book Volume: 18

Journal Issue: 1

DOI: 10.1186/s13058-016-0675-7

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.

Authors with CRIS profile

Involved external institutions

King’s College London United Kingdom (GB) The Institute of Cancer Research (ICR) United Kingdom (GB) Queen Mary, University of London United Kingdom (GB) University of Sheffield United Kingdom (GB) London School of Hygiene and Tropical Medicine United Kingdom (GB) University of Cambridge United Kingdom (GB) Spanish National Cancer Research Centre / Centro Nacional de Investigaciones Oncológicas (CNIO) Spain (ES) McGill University and Génome Québec Innovation Centre Canada (CA) Karolinska Institute Sweden (SE) National Cancer Institute (NCI) United States (USA) (US) Oslo University Hospital / Oslo Universitetssykehus Rikshospitalet Norway (NO) Université Laval (UL) Canada (CA) Cancer Council Victoria Australia (AU) Ruhr-Universität Bochum (RUB) Germany (DE) Robert-Bosch-Krankenhaus Germany (DE) The University of Melbourne Australia (AU) Medizinische Hochschule Hannover (MHH) / Hannover Medical School Germany (DE) Deutsches Krebsforschungszentrum (DKFZ) Germany (DE) Universität zu Köln Germany (DE) Oulun Yliopisto / University of Oulo Finland (FI) Pomeranian Medical University / Pomorski Uniwersytet Medyczny w Szczecinie (PMU) Poland (PL) University of Toronto Canada (CA) Mount Sinai Hospital (MSH) Canada (CA) Leiden University Netherlands (NL) University of Hawaii (U.H.) United States (USA) (US) University of Southern California (USC) United States (USA) (US) Kuopio University Hospital / Pohjois-Savon sairaanhoitopiiri Finland (FI) Istituto di ricovero e cura a carattere scientifico (IRCCS) Italy (IT) IFOM - FIRC Institute of Molecular Oncology Italy (IT) Ruprecht-Karls-Universität Heidelberg Germany (DE) Erasmus University Rotterdam (EUR) / Erasmus Universiteit Rotterdam Netherlands (NL) Erasmus University Medical Center (MC) Netherlands (NL) National University of Ireland (NUI), Galway Ireland (IE) Flanders Institute for Biotechnology / Vlaams Instituut voor Biotechnologie (VIB) Belgium (BE) University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven Belgium (BE) Antoni van Leeuwenhoek Netherlands (NL) Herlev Hospital Denmark (DK) Roswell Park Cancer Institute United States (USA) (US) QIMR Berghofer Medical Research Institute (früher: the Queensland Institute of Medical Research) Australia (AU) National Institute for Health and Medical Research / Institut national de la santé et de la recherche médicale (INSERM) France (FR) Helsingin yliopisto / University of Helsinki Finland (FI) Mayo Clinic United States (USA) (US) University of Oxford United Kingdom (GB) Technische Universität München (TUM) Germany (DE)

How to cite

APA:

Petridis, C., Brook, M.N., Shah, V., Kohut, K., Gorman, P., Caneppele, M.,... Sawyer, E.J. (2016). Genetic predisposition to ductal carcinoma in situ of the breast. Breast Cancer Research, 18(1). https://dx.doi.org/10.1186/s13058-016-0675-7

MLA:

Petridis, Christos, et al. "Genetic predisposition to ductal carcinoma in situ of the breast." Breast Cancer Research 18.1 (2016).

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