Table 2.
Three classes of BRAF mutations identified by the International Cancer Genome Consortium (ICGC) and their clinical significance in different types of cancer.
| Mutation ID | Genomic DNA Change | Location of Mutations | Clinical Significance | Donors Affected | Cancer Type |
|---|---|---|---|---|---|
| CLASS I | |||||
| MU62030 | chr7: g.140453136 A > T |
V600E | Pathogenic | 814 | Bladder Urothelial Cancer Chronic Lymphocytic Leukemia Colon Adenocarcinoma Colorectal Cancer Brain Glioblastoma Multiforme Head and Neck Squamous Cell Carcinoma Kidney Renal Papillary Cell Carcinoma Brain Lower Grade Glioma Liver Cancer Lung Adenocarcinoma Malignant Lymphoma Skin Cancer Pediatric Brain Cancer Rectum Adenocarcinoma Skin Adenocarcinoma Skin Cutaneous Melanoma Thyroid Cancer Head and Neck Thyroid Carcinoma |
| MU32987175 | chr7: g.140453137 C > T |
V600M | Likely pathogenic | 54 | Skin Cancer Skin Adenocarcinoma Skin Cutaneous Melanoma |
| MU40909253 | chr7: g.140453136 AC > TT |
V600K | Pathogenic | 17 | Skin Cancer |
| MU44780501 | chr7: g.140453136 AC > CT |
V600R | Pathogenic | 2 | Skin Cancer |
| MU44927644 | chr7: g.140453135CA > GT |
V600D | - | 1 | Skin Cancer |
| CLASS II | |||||
| MU1846052 | chr7: g.140453134 T > C |
K601E | Pathogenic | 16 | Chronic Lymphocytic Leukemia Lymphoid Neoplasm Diffuse Large B-Cell Lymphoma Skin Cancer Prostate Adenocarcinoma Skin Cutaneous Melanoma Gastric Adenocarcinoma Head and Neck Thyroid Carcinoma Uterine Corpus Endometrial Carcinoma |
| MU161538 | chr7: g.140481402 C > G |
G469A | Pathogenic | 14 | Bladder Cancer Bladder Urothelial Cancer Chronic Lymphocytic Leukemia Colon Adenocarcinoma Early Onset Prostate Cancer Lung Adenocarcinoma Lung Squamous Cell Carcinoma Oral Cancer Prostate Adenocarcinoma Skin Cutaneous Melanoma Gastric Adenocarcinoma Skin Adenocarcinoma |
| MU86259478 | chr7: g.140481402 C > A |
G469V | Pathogenic | 6 | Lung Adenocarcinoma Malignant Lymphoma |
| MU1299736 | chr7: g.140481403 C > T |
G469R | Likely pathogenic | 6 | Lung Squamous Cell Carcinoma Skin Cancer Skin Cutaneous Melanoma |
| MU1334968 | chr7: g.140481417 C > A |
G464V | Pathogenic/Likely pathogenic | 3 | Biliary Tract Cancer Lung Adenocarcinoma Lung Squamous Cell Carcinoma |
| MU4410750 | chr7: g.140453145 A > T |
L597Q | Pathogenic/Likely pathogenic | 2 | Chronic Lymphocytic Leukemia Skin Cutaneous Melanoma |
| MU50026 | chr7: g.140453132 T > A |
K601N | Likely pathogenic | 2 | Chronic Lymphocytic Leukemia Blood Cancer - T-Cell and Nk-Cell Lymphoma |
| MU44221302 | chr7: g.140453146 G > C |
L597V | Pathogenic | 2 | Biliary Tract Cancer Colon Adenocarcinoma |
| MU129883017 | chr7: g.140481417 C > T |
G464E | Pathogenic/Likely pathogenic | 1 | Uterine Corpus Endometrial Carcinoma |
| MU6236086 | chr7: g.140453133 T > G |
K601T | Pathogenic/Likely pathogenic | 1 | Gastric Adenocarcinoma |
| CLASS III | |||||
| MU126831 | chr7: g.140453155 C > T |
D594N | Likely pathogenic | 13 | Colon Adenocarcinoma Colorectal Cancer Head and Neck Squamous Cell Carcinoma Liver Cancer Lung Adenocarcinoma Lung Squamous Cell Carcinoma Malignant Lymphoma Skin Cutaneous Melanoma Gastric Adenocarcinoma |
| MU831694 | chr7: g.140453193 T > C |
N581S | Likely pathogenic | 12 | Biliary Tract Cancer Chronic Lymphocytic Leukemia Kidney Renal Papillary Cell Carcinoma Liver Cancer Lung Adenocarcinoma Ovarian Serous Cystadenocarcinoma Skin Cutaneous Melanoma |
| MU168532 | chr7: g.140481411 C > A |
G466V | Pathogenic/Likely pathogenic | 9 | Colon Adenocarcinoma Esophageal Adenocarcinoma Lung Adenocarcinoma Lung Squamous Cell Carcinoma Skin Cutaneous Melanoma |
| MU50763 | chr7: g.140453154 T > C |
D594G | Pathogenic | 9 | Bladder Cancer Chronic Lymphocytic Leukemia Colorectal Cancer Brain Lower Grade Glioma Malignant Lymphoma Pancreatic Cancer Pancreatic Cancer Endocrine Neoplasms |
| MU4440100 | chr7: g.140481411 C > T |
G466E | Likely pathogenic | 8 | Breast Er+ and Her2- Cancer Head and Neck Squamous Cell Carcinoma Skin Cancer Skin Cutaneous Melanoma |
| MU4420958 | chr7: g.140481408 G > A |
S467L | - | 5 | Skin Cancer Skin Cutaneous Melanoma |
| MU1661062 | chr7: g.140481402 C > T |
G469E | Pathogenic | 4 | Skin Cancer Oral Cancer Skin Cutaneous Melanoma |
| MU51987727 | chr7: g.140481411 C > G |
G466A | Likely pathogenic | 2 | Lung Adenocarcinoma Skin Cancer |
| MU4622596 | chr7: g.140453149 C > G |
G596R | Pathogenic/Likely pathogenic | 2 | Bladder Cancer Lung Adenocarcinoma |
| MU30632423 | chr7: g.140453154 T > G |
D594A | Likely pathogenic | 2 | Colorectal Cancer Liver Cancer |
| MU63537540 | chr7: g.140453155 C > G |
D594H | Pathogenic/Likely pathogenic | 2 | Colorectal Cancer Lung Adenocarcinoma |
| MU591874 | chr7: g.140453148 C > T |
G596D | Likely pathogenic | 1 | Brain Glioblastoma Multiforme |
| MU4622598 | chr7: g.140453152 A > G |
F595L | Pathogenic/Likely pathogenic | 1 | Bladder Cancer |