Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.-论文-万方医学网

第一作者： Irene,Catucci

第一单位： Genome Diagnostics Program, IFOM, The FIRC Institute of Molecular Oncology, Milan, Italy.

作者： Irene,Catucci ^[1] ; Ana,Osorio ^[2] ; Brita,Arver ^[3] ; Guido,Neidhardt ^[4] ; Massimo,Bogliolo ^[5] ; Federica,Zanardi ^[1] ; Mirko,Riboni ^[1] ; Simone,Minardi ^[1] ; Roser,Pujol ^[5] ; Jacopo,Azzollini ^[6] ; Bernard,Peissel ^[6] ; Siranoush,Manoukian ^[6] ; Giovanna,De Vecchi ^[7] ; Stefano,Casola ^[1] ; Jan,Hauke ^[4] ; Lisa,Richters ^[4] ; Kerstin,Rhiem ^[4] ; Rita K,Schmutzler ^[4] ; Karin,Wallander ^[8] ; Therese,Törngren ^[9] ; Åke,Borg ^[9] ; Paolo,Radice ^[10] ; Jordi,Surrallés ^[5] ; Eric,Hahnen ^[4] ; Hans,Ehrencrona ^[11] ; Anders,Kvist ^[9] ; Javier,Benitez ^[2] ; Paolo,Peterlongo ^[1]

作者单位： Genome Diagnostics Program, IFOM, The FIRC Institute of Molecular Oncology, Milan, Italy. ^[1] Spanish National Cancer Research Center (CNIO) and Spanish Network on Rare Diseases, Madrid, Spain. ^[2] Department of Oncology-Pathology, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden. ^[3] Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.;Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. ^[4] Department 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. ^[5] Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. ^[6] Genome Diagnostics Program, IFOM, The FIRC Institute of Molecular Oncology, Milan, Italy.;Cogentech, Cancer Genetic Test Laboratory, Milan, Italy. ^[7] Department of Molecular Medicine and Surgery, Karolinska Institute, and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. ^[8] Division of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden. ^[9] Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. ^[10] Department of Clinical Genetics, Laboratory Medicine, Office for Medical Services, Lund, Sweden.;Department of Clinical Genetics, Lund University, Lund, Sweden. ^[11]

医学主题词等位基因(Alleles);抗肿瘤药(Antineoplastic Agents);乳腺肿瘤(Breast Neoplasms);染色体脆性(Chromosome Fragility);近亲(Consanguinity);DNA解旋酶类(DNA Helicases);抗药性, 肿瘤(Drug Resistance, Neoplasm);范科尼贫血(Fanconi Anemia);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);基因型(Genotype);生殖细胞系突变(Germ-Line Mutation);人类(Humans);男(雄)性(Male);突变(Mutation);系谱(Pedigree);表型(Phenotype);危险性评估(Risk Assessment);危险因素(Risk Factors)

DOI 10.1038/gim.2017.123

PMID 28837162

发布时间 2022-02-10

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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

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Genetics in medicine

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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

相似文献

同项目论文

Genetics in medicine

相关期刊

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