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Identifying Somatic Mutations for Tumor Profiling
Every cancer cell has its own pattern of mutated genes. This results in each cancer case, and even parts of the tumor, to be individual with respect to diagnosis, prognosis and treatment response. The presence of recurrent somatic mutations allows us to create a detailed molecular fingerprinting of the tumor and to identify important diagnostic tumor subtypes.
How can somatic genetic testing help patient care?
Somatic mutation analysis is a standard of practice for tumors in order to identify therapeutic sensitizing and resistance mutations. This allows a finer assessment of the diagnosis and prognosis and targeted therapies directed towards the individual patients tumor profile.
What do we know about Somatic Mutations?
Cancer is one of the leading causes of morbidity and mortality worldwide. Cancer can be the result of a genetic predisposition that is inherited from family members (germline (hereditary) gene mutation) or it can be the result of the acquired mutations accumulated during a lifetime (somatic (acquired) mutation).
Unlike regular cells, cancer cells do not experience physiological elimination of “programmed cell death” or “apoptosis”; instead they continue to grow and divide. Tumor cells show uncontrolled proliferation if there are mutations in the genes involved in cell division .
Why choose CENTOGENE?
Our portfolio for somatic mutation testing
Single Gene Analysis
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Acute myeloid leukemia, somatic, DNMT3A related
DNMT3A -
BRAF somatic Hotspot: c.1799T>A p.V600E
BRAF -
BRAF, selective sequencing of exon 15
BRAF -
CALR, selective sequencing of exon 9
CALR -
EGFR somatic Hotspot: c.2573T>G, p.L858R
EGFR -
EGFR, selective sequencing of exons 18-21
EGFR -
IDH1, selective sequencing of exon 4
IDH1 -
IDH2, selective sequencing of exon 4
IDH2 -
JAK2, selective sequencing of exons 12, 14 and 16
JAK2 -
KIT, selective sequencing of exons 8, 9, 11, 13 and 17
KIT -
KRAS somatic Hotspot: c.35G>A, p.G12D
KRAS -
KRAS somatic Hotspot: c.35G>T p.G12V
KRAS -
KRAS somatic Hotspot: c.38G>A, p.G13D
KRAS -
KRAS, selective sequencing of exon 2 and 3
KRAS -
Leukemia, acute myelogenous
JAK2 -
Leukemia, acute myelogenous
KRAS -
Leukemia, acute myeloid
KIT -
Leukemia, acute myeloid
RUNX1 -
Leukemia, acute myeloid, somatic
CEBPA -
Leukemia, juvenile myelomonocytic
PTPN11 -
Leukemia, lymphoblastic and myeloid, EZH2 related
EZH2 -
MPL, selective sequencing of exon 10
MPL -
Myelodysplastic syndrome, somatic
TET2 -
Myelofibrosis, somatic
JAK2 -
NPM1, selective sequencing of exon 11
NPM1 -
NRAS somatic Hotspot: c.34G>T, p.G12C
NRAS -
NRAS somatic Hotspot: c.35G>A, p.G12D
NRAS -
NRAS somatic Hotspot: c.181C>A p.Q61K
NRAS -
NRAS somatic Hotspot: c.182A>G, p.Q61R
NRAS -
NRAS, selective sequencing of exons 2 and 3
NRAS -
PDGFRA, selective sequencing of exons 12, 14 and 18
PDGFRA -
PDGFRA, selective sequencing of exons 12, 14 and 18
PDGFRA -
Polycythemia vera, somatic
JAK2 -
Thrombocythemia type 3, somatic
JAK2 -
Squamous cell carcinoma, burn scar-related, somatic
FAS -
Testicular tumor, somatic
STK11 -
Thrombocythemia type 3, somatic
JAK2 -
Thyroid adenoma, hyperfunctioning, somatic
TSHR -
Thyroid carcinoma with thyrotoxicosis
TSHR -
Thyroid carcinoma, follicular, HRAS related, somatic
HRAS -
Thyroid carcinoma, follicular, somatic
NRAS -
Uveal melanoma, GNAQ related, somatic
GNAQ -
Various cancers, DICER1 related, somatic
DICER1 -
Wilms tumor, IGF2 related, somatic
IGF2
Note: Hotspot targeted mutation testing is unavailable in the US for the following mutations: BRAF c.1799T>A p.V600E, EGFR c.2573T>G, p.L858R, KRAS c.35G>A, p.G12D, KRAS c.38G>A, p.G13D, KRAS c.35G>T p.G12V, NRAS c.181C>A p.Q61K, NRAS c.34G>T, p.G12C, NRAS c.35G>A, p.G12D, NRAS c.182A>G, p.Q61R.