3 research outputs found
Additional file 3: of Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
Pedigrees of investigated families with (likely) pathogenic variants (pedigrees of all families of carriers of pathogenic or likely pathogenic variants in our cohort, including age of onset of malignant disease). (DOCX 692Â kb
Additional file 4: of Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
Total list of TP53 (NM_000546.5) variants detected via NGS-based sequencing (entire list of all detected TP53 variants in our collective). (DOCX 35Â kb
Additional file 2: of Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
Definitions of Li-Fraumeni criteria (official definitions of available clinical criteria, including classic LFS criteria, LFL criteria of Eeles and Birch, and 3 versions of Chompret criteria). (DOCX 18Â kb