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| Genes and Disorders with Germline Mutations and Somatic Mutations Overview |
Updated on July 25, 2008
Yoko Aoki MD |
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| Gene symbol |
Protein |
OMIM |
Number of exons (coding exons) |
Chromosome location |
Germline mutations |
Somatic mutations |
| HRAS |
HRAS |
190020 |
6 (5) |
11p15.5 |
Costello |
Bladder carcinoma |
| KRAS |
KRAS |
190070 |
6 (5) |
12p12.1 |
CFC
Noonan
Costello |
Lung, colon and pancreatic cancer |
| BRAF |
BRAF |
164757 |
18 (18) |
7q34 |
CFC |
Malignant melanoma, colon cancer, thyroid cancer |
| MAP2K1 |
MEK1 |
176872 |
11 (11) |
15q22 |
CFC |
― |
| MAP2K2 |
MEK2 |
601263 |
11 (11) |
19p13.3 |
CFC |
― |
| PTPN11 |
SHP-2 |
176876 |
16 (15) |
12q24.1 |
Noonan
LEOPARD |
JMML, AML, ALL, MDS, CML, solid tumors |
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JMML, juvenile myelomonocytic leukemia; AML, acute myeloid leukemia, ALL; acute lymphoblastic leukemia, MDS, myelodysplasitc syndrome;
CML; chronic myelogenous leukemia; MDS, myelodysplasitc syndrome |
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