MOLECULAR ONCOLOGY

  • Molecular Oncology

Molecular Oncology diagnostic services to analyse genes

BRCA1 BRCA2 TP53 APC MSH2 MLH1

Genechron cancer molecular diagnostic services cancer analysis molecular tumor genes MutS genes cancer Protein Homolog 2 MutL Homolog 1cancer DNA development optimal ovarian mutational oncology cancer analysis oncology amplification cancer Lynch syndrome sequencing conditions tumor oncology analysis mutational DNA analysis Lynch syndrome oncology genes analysis molecular oncology following tumor genes BRCA1 BRCA2 TP53 APC MSH2 MLH1 DNA TP53 gene mutations Specific mutations cancer gene codes ovarian cancer BRCA2 TP53 APC MSH2 MLH1 DNA TP53 DNA repair Tumor Protein Adenomatous Polyposis Coli cancer Genechron cancer molecular diagnostic services cancer analysis molecular tumor genes MutS genes cancer Protein Homolog 2 and MutL Homolog 1cancer DNA development optimal ovarian mutational oncology cancer analysis oncology amplification cancer Lynch syndrome sequencing conditions tumor oncology analysis mutational DNA analysis Lynch syndrome for oncology genes analysis molecular oncology following tumor genes BRCA1 BRCA2 TP53 APC MSH2 MLH1 DNA TP53 gene mutations Specific mutations cancer gene codes ovarian cancer BRCA2 TP53 APC MSH2 MLH1 DNA TP53 DNA repair Tumor Protein Adenomatous Polyposis Coli cancer

Analysis of BRCA1 and BRCA2 genes for screening against the risk of breast and ovarian cancer (Serenity)

Cancer is a serious disease due to the mutation of some genes. These mutations cause cells to grow uncontrollably and abnormally. Breast cancer is the most common type of cancer in the world in women, while ovarian cancer is the fifth most common cancer in Europe. Approximately 10% of breast tumors and 15% of ovarian tumors are hereditary.

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BRCASTAT

Increased risk of developing cancer due to BRCA mutations

Mutations in BRCA1 and BRCA2 genes are the most significant risk factors for breast and ovarian cancer

Congenital mutations in BRCA1 and BRCA2 genes are the most common cause of inherited breast cancer, and contribute to increasing the risk of developing other cancers in both men and women. Harmful mutations in BRCA genes can cause breast or ovarian cancer and early onset, even before age 30. First-degree relatives of a carrier of a mutation of BRCA genes have a much higher risk of developing a tumor.

Each child of a parent carrying a BRCA mutation has a 50% chance to inherit this mutation. The presence of a family member within the 40 years of age, with breast cancer increases the risk for the rest of the family. About 50% of women with BRCA1 or BRCA2 mutations do not have a family history of breast or ovarian cancer, so they are unaware of the mutations that cause cancer.

Genechron offers a preventive, quick and safe screening with clear and fast results

The survival rate of breast and ovarian cancer grows significantly when discovered at an early stage, when there are more possibilities for treatment. The lack of signals and symptoms in the initial phase leads to a late diagnosis linked to low survival rates. Current standard procedures are able to detect only the changes already present in the tissue, a symptom of a tumor progression already started. Early detection and precise identification of BRCA1 and BRCA2 gene mutations can make the difference.

Survival rates for breast cancer after 5 years

Amplification

The screening of BRCA 1 and 2 genes can save lives because it is able to identify carriers of possible mutations in advance, and allows to implement preventive treatments, just when these are more effective.

The test proposed by Genechron is able to provide accurate and reliable results of the analysis of BRCA 1 and BRCA2 genes in about 1 month from the reception of the sample in the laboratory.

Our test is:

Easy: the DNA sample necessary for the analysis is collected through a buccal swab that is neither invasive nor painful

Accurate: Complete sequencing of the BRCA1 and BRCA2 genes. Detection of all pathogenic mutations

Early: Women of all ages can be eligible for this screening test - Early detection allows more effective preventive action for one's well-being

Reliable: The test is CE-IVD marked and provides a result with high sensitivity 

Genechron S.r.l. offers molecular diagnostic services that also includes complete coding regions sequencing and mutational analysis for the following genes: TP53, RET, MSH2/MLH1 and CDKN2A. It is also possible to request the analysis of the mutation V617F of the JAK2 gene.

TP53

TP53 gene (Tumor Protein 53) codes for a protein called tumor protein p53 which acts as a tumor suppressor: it regulates cell division by avoiding cells from growing or dividing too fast or in an uncontrolled way. TP53 gene mutations have been found in some cases of bladder cancer, breast and ovarian cancer, head and neck squamous cell carcinomas and Li-Fraumeni syndrome.

RET

The RET gene provides instructions for producing a protein that is involved in signaling within cells. This protein appears to be essential for the normal development of several kinds of nerve cells and is also necessary for normal kidney development and the production of sperm (spermatogenesis). Mutations in the RET gene are the most common genetic cause of Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. More than 200 RET gene mutations are known to cause this condition. Furthermore, more than 25 mutations in the RET gene are known to cause a form of multiple endocrine neoplasia called type 2.

MSH2/MLH1

The MSH2 / MLH1 genes (MutS Protein Homolog 2 and MutL Homolog 1) encode proteins involved in DNA repair. These proteins intervene in the repair of errors that occur during the DNA replication phase that occurs before cell division. Several mutations in these genes are also involved in Lynch syndrome and ovarian cancer.

CDKNA

The CDKN2A gene provides instructions for making several proteins. The most well-studied are the p16 (INK4A) and the p14(ARF) proteins. Both function as tumor suppressors, which means they keep cells from growing and dividing too rapidly or in an uncontrolled way. Both proteins are also involved in stopping cell division in older cells (senescence). Mutations in the CDKN2A gene are found in up to one-quarter of head and neck squamous cell carcinomas (HNSCC). Mutations in the CDKN2A gene are also associated with melanoma, a type of skin cancer that begins in pigment-producing cells called melanocytes. CDKN2A gene mutations are found in up to 40 percent of familial cases of melanoma, in which multiple family members develop the cancer.

JAK2

The JAK2 gene provides instructions for making a protein that promotes the growth and proliferation of cells. and it is especially important for controlling the production of blood cells from hematopoietic stem cells. The V617F mutation of the JAK2 gene is associated with thrombocythaemia (due to the overproduction of megakaryocytes and consequent excess of platelets), polycythemia vera (due to a lack of oxygen in body tissues caused by excessive production of blood cells and slowing of blood flow) and myeloproliferative disorders.