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).

附加文件1. TP53（NM_000546.5）变异体、功能数据分类及相关表型。缩略语：急性淋巴细胞白血病（Acute lymphatic leukemia, ALL）、急性髓系白血病（Acute myeloid leukemia, AML）、肾上腺皮质癌（Adrenocortical carcinoma, ACC）、双侧性（bilateral, bilat）、乳腺癌（Breast cancer, BC）、癌（Carcinoma, CA）、脉络丛癌（Choroid plexus carcinoma, CPC）、慢性淋巴细胞白血病（Chronic lymphatic leukemia, CLL）、慢性髓系白血病（Chronic myeloid leukemia, CML）、结直肠癌（Colorectal carcinoma, CRC）、导管原位癌（Ductal carcinoma in situ, DCIS）、雌激素受体（Estrogen receptor, ER）、女性（Female, f）、人表皮生长因子受体2阳性（Human epidermal growth factor receptor 2 positive, Her2+）、李-弗劳梅尼综合征（Li-Fraumeni syndrome, LFS）、小叶上皮内瘤变（Lobular intraepithelial neoplasia, LIN）、男性（Male, m）、髓母细胞瘤（Medulloblastoma, MB）、骨髓增生异常综合征（Myelodysplastic syndrome, MDS）、神经母细胞瘤（Neuroblastoma, NBL）、非小细胞肺癌（Non-small-cell lung carcinoma, NSCLC）、无可用数据（Not available, NA）、骨肉瘤（Osteosarcoma, OS）、原始神经外胚层肿瘤（Primitive Neuro-Ectodermal Tumor, PNET）、孕激素受体（Progesterone receptor, PR）、横纹肌肉瘤（Rhabdomyosarcoma, RMS）、软组织肉瘤（Soft tissue sarcoma, STS）、三阴性乳腺癌（Triple-negative breast cancer, TNBC）。标注有*的变异体被归类为无效变异；为简化分析，片段小于完整外显子的缺失同样被评定为无效变异。基于Monti与Dearth相关研究得出的DNE国际癌症研究机构（IARC）评估值，可通过TP53数据库（https://tp53.isb-cgc.org）获取。