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BRCA1 and BRCA2 are high-penetrance breast cancer predisposition genes identified by genome-wide linkage analysis and positional cloning. Mutations in BRCA1/2 explain ∼20% of the familial clustering of breast cancer.
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BRCA1 and BRCA2 gene mutations account for most actionable genetic breast cancer predispositions and are increasingly used for personalised breast cancer management and PARPi therapy of BRCA-related cancer. Thus, we propose updated guidelines for BRCA testing.
6 wrz 2024 · An inherited BRCA1 mutation may affect your options for cancer prevention, detection and treatment. Learn about your risks and options.
BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer.
Individuals who have inherited a harmful change in BRCA1 or BRCA2 have several options for reducing cancer risk. These include enhanced screening, risk-reducing surgery (sometimes referred to as prophylactic or preventive surgery), and taking medication to reduce their risk.
In this review, we provide an information on the clinical features of BRCA1/BRCA2 pathogenic variant breast cancer and clinical recommendations for BRCA pathogenic variant carriers, with a focus on treatment and prevention strategies.
28 sie 2021 · Tumors arising in BRCA1/2 germline mutation carriers usually demonstrate somatic loss of the remaining BRCA1/2 allele and increased sensitivity to platinum compounds, anthracyclines, mitomycin C and poly (ADP-ribose) polymerase inhibitors (PARPi).
