Additional file 1 of Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

Additional file 1. TP53 (NM_000546.5) variants, functional data categories, and associated phenotypes. Abbreviations: Acute lymphatic leukemia (ALL), acute myeloid leukemia (AML), adrenocortical carcinoma (ACC), bilateral (bilat), breast cancer (BC), carcinoma (CA), choroid plexus carcinoma (CPC), chronic lymphatic leukemia (CLL), chronic myeloid leukemia (CML), colorectal carcinoma (CRC), ductal carcinoma in situ (DCIS), estrogen receptor (ER), female (f), human epidermal growth factor receptor 2 positive (Her2+), Li-Fraumeni syndrome (LFS), lobular intraepithelial neoplasia (LIN), male (m), medulloblastoma (MB), myelodysplastic syndrome (MDS), neuroblastoma (NBL), non-small-cell lung carcinoma (NSCLC), not available (NA), osteosarcoma (OS), Primitive Neuro-Ectodermal Tumor (PNET), progesterone receptor (PR), rhabdomyosarcoma (RMS), soft tissue sarcoma (STS), triple-negative breast cancer (TNBC). Variants marked * were classified as NULL variants; to reduce complexity, smaller (less than whole exon) deletions were rated as NULL variants as well. The DNE IARC estimation, based largely on studies by Monti and Dearth, was accessed via the TP53 Database (https://tp53.isb-cgc.org).