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

Keyphrases

• American College of Medical Genetics 14%
• Biallelic 14%
• Biallelic mutations 100%
• Bone Marrow Failure 28%
• BRCA2 28%
• Breast Cancer 28%
• Breast Cancer Risk 28%
• Breast Cancer Susceptibility Gene 1 (BRCA1) 28%
• Breast Cancer Treatment 100%
• Cancer Chemotherapy Toxicity 100%
• Cancer Genes 14%
• Cancer Predisposition 28%
• Chemotherapy 14%
• Chromosome Fragility 100%
• Clinical Features 14%
• Clinical Phenotype 14%
• DNA Damage Response Genes 14%
• Early Menopause 14%
• FANCD1 28%
• FANCM 100%
• Fanconi Anemia 100%
• Fanconi Anemia Genes 14%
• Gain-of-function mutation 14%
• Gene Panel 14%
• Gene Testing 14%
• Germline mutation 14%
• Heterogeneous Phenotype 14%
• High Risk 14%
• Malformation 14%
• Medical Genomics 14%
• Moderate Risk 14%
• Monoallelic 14%
• Mutation Analysis 14%
• Mutation Testing 14%
• No-report 14%
• PALB2 28%
• Phenotype Severity 14%
• Proband 14%

Biochemistry, Genetics and Molecular Biology

• Bone Marrow Failure 28%
• BRCA1 28%
• BRCA2 28%
• DNA Damage Response 14%
• Early Menopause 14%
• FANCM 100%
• Gene Sequence 14%
• Germline Mutation 14%
• Loss of Function Mutation 14%
• Medical Genetics 14%
• Medical Genomics 14%
• PALB2 28%
• Proband 14%