Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

Genetics in Medicine - Tập 20 - Trang 452-457 - 2018
Irene Catucci1, Ana Osorio2, Brita Arver3, Guido Neidhardt4,5, Massimo Bogliolo6, Federica Zanardi1, Mirko Riboni1, Simone Minardi1, Roser Pujol6, Jacopo Azzollini7, Bernard Peissel7, Siranoush Manoukian7, Giovanna De Vecchi1,8, Stefano Casola1, Jan Hauke9,5, Lisa Richters9,5, Kerstin Rhiem9,5, Rita K. Schmutzler9,5, Karin Wallander10, Therese Törngren11
1Genome Diagnostics Program, IFOM, The FIRC Institute of Molecular Oncology, Milan, Italy;
2Spanish National Cancer Research Center (CNIO) and Spanish Network on Rare Diseases, Madrid, Spain;
3Department of Oncology–Pathology, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden;
4Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany;
5Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany
6Department of Genetics and Microbiology, Genetics Department of Hospital de les Santes Creus i Sant Pau, Universitat Autònoma de Barcelona, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain;
7Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
8Cogentech Cancer Genetic Test Laboratory, Milan, Italy
9Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany
10Department of Molecular Medicine and Surgery, Karolinska Institute, and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden;
11Division of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden

Tài liệu tham khảo

Collaborative Group on Hormonal Factors in Breast Cancer Couch Antoniou Bluteau Bogliolo Meetei Singh Lim Kiiski Peterlongo Neidhardt Castella Kilpivaara Whitby Bakker Luo Adank Zhang Bogliolo, 2017, Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia, Genet Med, 19, XXX Walden