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Fig. 3 | Human Genomics

Fig. 3

From: Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study

Fig. 3

Heatmap representing germline and somatic mutated genes with their sum of mutation allele fraction (MAF) in each patient. Red boxes represent germline mutations, green boxes represent somatic mutations; intensity of color indicates the sum of MAF. If germline and somatic mutations co-occur in the same gene of the same patients, only germline mutations (red boxes) will be shown. Patients are ordered according to their sum of MAF for TP53 mutations. Clinical information (tumor stage, tumor site, age of diagnosis, prognosis, tumor size) of each patient was represented as sidebars. Stage: clinical stage of the tumor, 0 - unknown; 1 - stage I; 2 - stage II; 3 - stage III. Prognosis, 0 - death, 1 - unknown, 2 - survival until end of study; 3 - relapse/metastasis. Site: site of breast cancer, 1 - left, 2 - right. Size: size of tumor (cm). GeneClass: genes are divided into 3 gene classes according to their participation in different pathways, HDR homology-directed repair pathway-associated genes; LS/COL Lynch syndrome/colorectal cancer-associated genes; UPS upstream master regulators

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