BRCA panel

Tumour suppressor genes involved in DNA break repair (homologous recombination).
Mutations in breast cancer are about. 4-6%, ovarian cancer 10-15% and prostate cancer 6-8%.
There are more than 2,000 known mutations in genes that result in loss of protein function.
Poly(ADP)ribose polymerase inhibitor (PARPi) treatment is a promising therapeutic option for mutations.
ESMO* recommends tumour tissue BRCA1 and BRCA2 mutation analysis for all non-mucinous ovarian cancers and metastatic prostate cancer.

Ovarian cancer has the highest mortality rate of all gynaecological tumours.
There are 1200-1300 cases of ovarian cancer in Hungary every year, and around 700 people die from the disease.
Of all ovarian cancers about. 70% are high-grade serous carcinomas; in this type, the most common mutations are BRCA1 and BRCA2.

Prostate cancer is the second most common malignancy in men.
The expected survival of hormone therapy-resistant prostate cancer is only 2-4 years.
In the case of mutations in DNA repair genes, PARPi treatment is expected to be effective, as in ovarian cancer.

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FFPE block or section, cell block, or smear, or isolated DNA

classification of variants according to international standards (pathogenic, likely pathogenic, VUS, etc.)

bioinformatics analysis, identification and annotation of variants

microscopic assessment of tumor cell number, DNA isolation

Szerzett és csíravonal mutációk kimutatása egy vizsgálattal.
Formalinban fixált, paraffinba ágyazott (FFPE) blokkból vagy >10 metszetből kiindulva.
Szükséges tumorsejt arány: ≥20%
BRCA1, BRCA2 és PALB2 gének teljes kódoló és 3’/5’ UTR régióinak szekvenálása.
Bioinformatic identification of single nucleotide variants (SNV), short insertions and deletions.
Az azonosított variánsok osztályozása és annotációja (ClinVar, COSMIC, HGMD, BRCA Exchange stb.).