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Cancer genetics
Communications
The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain
  1. Paolo Peterlongo1,2,
  2. Laura Caleca2,
  3. Elisa Cattaneo3,4,
  4. Fernando Ravagnani5,
  5. Tiziana Bianchi6,
  6. Laura Galastri6,
  7. Loris Bernard7,
  8. Filomena Ficarazzi8,
  9. Valentina Dall'olio8,
  10. Frederik Marme9,10,
  11. Anne Langheinz9,11,
  12. Christoph Sohn9,
  13. Barbara Burwinkel9,11,
  14. Graham G Giles12,
  15. Laura Baglietto12,
  16. Gianluca Severi12,
  17. Fabrice A Odefrey13,
  18. Melissa C Southey13,
  19. Ana Osorio14,15,
  20. Fernando Fernández14,
  21. Maria Rosario Alonso16,
  22. Javier Benítez14,15,16,
  23. Monica Barile17,
  24. Bernard Peissel3,
  25. Siranoush Manoukian3,
  26. Paolo Radice1,2
  1. 1IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
  2. 2Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
  3. 3Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
  4. 4Università degli Studi di Milano, Medical Genetics, Department of Medicine, Surgery and Dentistry, Milan, Italy
  5. 5Immunohematology and Transfusion Medicine Service, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
  6. 6Associazione Italiana Volontari Sangue (AVIS) Comunale Milano, Milan, Italy
  7. 7Department of Experimental Oncology, Istituto Europeo di Oncologia, Milan, Italy
  8. 8Cogentech, Consortium for Genomic Technologies, Milan, Italy
  9. 9Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Germany
  10. 10National Center for Tumor disease NCT, Heidelberg, Germany
  11. 11Molecular Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany
  12. 12Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia
  13. 13Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Victoria, Australia
  14. 14Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain
  15. 15Spanish Network on Rare Diseases (CIBERER), Madrid, Spain
  16. 16Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain
  17. 17Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy
  1. Correspondence to Paolo Peterlongo, IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Laboratory of Molecular Genetics of Cancer, Milan 20139, Italy; paolo.peterlongo{at}ifom-ieo-campus.it

https://doi.org/10.1136/jmedgenet-2011-100103

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    The rare variant rs12975333 is a G→T change located at the eighth nucleotide of the mature microRNA-125a (miR-125a). The T allele has been reported to block the processing of pri-miRNA to pre-miRNA precursor and to be extremely rare, being detected only once in a panel of 1200 individuals from diverse ethnic backgrounds assessed by the Centre d'Etude du Polymorphisme Humain.1 A study by Li et al2 showed the T allele of rs12975333 to be strongly associated with breast cancer risk, with 6 of 72 (8.3%) breast cancer cases from two hospitals in Antwerp, Belgium, being carriers of the T allele and none of 282 controls collected from the general population in the Antwerp area or 587 Caucasian controls collected in the USA.2 The breast cancers were all lymph node negative and received only local treatment (mastectomy or lumpectomy followed by radiation treatment). Genotyping was performed by means of the TaqMan assay, as previously described,1 using whole-genome-amplified DNA obtained from …

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    Footnotes

    • Funding The German study was supported by the Dietmar Hopp Foundation, the German Cancer Research Center DKFZ and the Helmholz Association. The Italian study was funded by grants from Fondazione Italiana per la Ricerca sul Cancro (Special Project ‘Hereditary tumors’), Associazione Italiana per la Ricerca sul Cancro (4017), Ministero della Salute (RFPS-2006-3-340203; Extraordinary National Cancer Program 2006, ‘Alleanza Contro il Cancro’; ‘Progetto Tumori Femminili’), Ministero dell'Università e Ricerca (RBLAO3-BETH) and Istituto Superiore di Sanità (526D/41) and by funds from Italian citizens who allocated the 5×1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects ‘5×1000’). In the Australian study, infrastructure support for the Melbourne Collaborative Cohort Study recruitment and follow-up is provided by The Cancer Council Victoria, while cohort recruitment was partly funded by VicHealth. This work, using the Melbourne Collaborative Cohort Study, was supported by the Australian National Health and Medical Research Council (grants 209057, 251533 and 396414). MCS is a Senior Research Fellow of the National Health and Medical Research Council (Australia) and Group Leader of the Victorian Breast Cancer Research Consortium. The Spanish study was partially supported by ‘Red de Investigación en Cáncer RD06/0020/1160’, Spanish Ministry of Science and Innovation (FIS PI08 1120 and SAF2010-20493) and Fundación Mutua Madrileña.

    • Competing interests None.

    • Ethics approval University of Heidelberg; Fondazione IRCCS Istituto Nazionale Tumori, Milan; University of Melbourne; Queensland Institute of Medical Research; Centro Nacional de Investigaciones Oncologicas, Madrid.

    • Provenance and peer review Not commissioned; externally peer reviewed.