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For patients with triple negative breast cancer, implementation of genetic testing in decision making might impact both risk management for the patient and her family, but also, importantly, therapeutic management.
Identifying genetically predisposed subjects dictates risk-reducing strategies that may imply bilateral salpingo-oophorectomy and mastectomy or long term medical approaches. In the advanced setting, genetic testing can influence decision for medical therapy (e.g. use of platinum derivatives, PARP (poly-ADP ribose polymerase) inhibitors in breast cancer patients with BRCA (breast cancer susceptibility gene) mutation).
The selection of patients for testing has long relied on the presence of a strong family history of breast and ovarian cancer. It is now clear that this criterion will result in substantial numbers of those with a BRCA mutation being missed.
Systematic large-scale genetic testing, simultaneously on germline and somatic tissues, is likely to improve decisional algorithms in patients with ovarian cancer. Feasibility of such approach in the clinical setting, in terms of a turnaround time compatible with clinical needs and sensitivity comparable if not superior to single-gene testing needs to be demonstrated before such diagnostic platforms can be routinely implemented in the diagnostic workflow. This is the scope of the present study.
Systematic large-scale genetic testing, simultaneously on germline and somatic tissues, is likely to improve decisional algorithms in patients with triple negative breast cancers.
Feasibility of such approach in the clinical setting, in terms of a turnaround time compatible with clinical needs and sensitivity comparable if not superior to single-gene testing needs to be demonstrated before such diagnostc platforms can be routinely implemented in the diagnostic workflow.
Two platforms will be used during the course of the study. The Illumina TruSight Cancer Risk panel is a commercially validated targeted enrichment panel which targets 94 genes and 284 SNPs (Single Nucleotide Polymorphism) associated with a predisposition towards cancer.
The GermSom panel was developed at European Institute of Oncology (IEO) in collaboration with institutions within the Alleanza Contro il Cancro consortium and manufactured by Agilent Technologies. It includes 349 genes with an established function in the biology and/or pharmacological actionability of multiple solid tumors, including breast cancer. It includes all the genomic regions analysed in the Illumina Trusight panel, plus 32 additional regions associated with risk of multiple tumors.
Patients will receive detailed genetic characterization of their germline and their tumor. This will provide the best possible characterization of their risk of developing of a secondary malignancy and can be exploited to identify families at risk for hereditary cancer risk. Patients will also benefit from an increased likelihood of being treated with appropriate drugs and of receiving appropriate surgery.
Triple Negative Breast Cancer
Istituto Europeo di Oncologia
European Institute of Oncology
Published on BioPortfolio: 2019-04-24T15:07:26-0400
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Breast neoplasms that do not express ESTROGEN RECEPTORS; PROGESTERONE RECEPTORS; and do not overexpress the NEU RECEPTOR/HER-2 PROTO-ONCOGENE PROTEIN.
Abnormal accumulation of lymph in the arm, shoulder and breast area associated with surgical or radiation breast cancer treatments (e.g., MASTECTOMY).
Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells.
A infiltrating (invasive) breast cancer, relatively uncommon, accounting for only 5%-10% of breast tumors in most series. It is often an area of ill-defined thickening in the breast, in contrast to the dominant lump characteristic of ductal carcinoma. It is typically composed of small cells in a linear arrangement with a tendency to grow around ducts and lobules. There is likelihood of axillary nodal involvement with metastasis to meningeal and serosal surfaces. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1205)
A deoxycytidine derivative and fluorouracil PRODRUG that is used as an ANTINEOPLASTIC ANTIMETABOLITE in the treatment of COLON CANCER; BREAST CANCER and GASTRIC CANCER.
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Polymerase Chain Reaction (PCR)
PCR (Polymerase Chain Reaction) uses the ability of DNA polymerase (enzymes that create DNA molecules by assembling nucleotides, the building blocks of DNA. These enzymes are essential to DNA replication and usually work in pairs to create two ident...