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A 2000 study of 66 Polish families with breast and ovarian cancer in which three BRCA1 mutations accounted for more than four in five of the faults found, showing that a short national test panel could replace full gene sequencing in Poland.
Górski, Byrski, Huzarski, Jakubowska and colleagues studied 66 Polish families with at least three related women affected by breast or ovarian cancer and at least one diagnosed under 50 (26 families with both cancers, 4 ovarian only, 36 breast only), screening the entire coding region of BRCA1 and BRCA2 by single-strand conformation polymorphism and sequencing. Mutations were found in 35 (53 percent) of the families, all but one in BRCA1: in all four ovarian-only families, 67 percent of the 27 breast-ovarian families and 34 percent of the 35 breast-only families. Seven distinct mutations were identified; recurrent mutations accounted for 33 (94 percent) of the 35 families, and three BRCA1 changes (5382insC, C61G and 4153delA) accounted for 51, 20 and 11 percent of the mutations identified.
The basis of Poland's founder-mutation testing programme, and an example of how the geography of BRCA1 variants shapes the geography of hereditary triple-negative breast cancer; 5382insC is shared with the Ashkenazi founder set.
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer roadmap: from a remainder defined by three negative tests to immunotherapy, antibody-drug conjugates and the residual disease problem and the tag tnbc-evidence.
Shares BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer roadmap: from a remainder defined by three negative tests to immunotherapy, antibody-drug conjugates and the residual disease problem, Triple-negative breast cancer (TNBC) and the tag tnbc-evidence.
Shares BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer roadmap: from a remainder defined by three negative tests to immunotherapy, antibody-drug conjugates and the residual disease problem, Triple-negative breast cancer (TNBC) and the tag tnbc-evidence.
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer roadmap: from a remainder defined by three negative tests to immunotherapy, antibody-drug conjugates and the residual disease problem and the tag tnbc-evidence.
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer roadmap: from a remainder defined by three negative tests to immunotherapy, antibody-drug conjugates and the residual disease problem and the tag tnbc-evidence.
Shares BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer roadmap: from a remainder defined by three negative tests to immunotherapy, antibody-drug conjugates and the residual disease problem, Triple-negative breast cancer (TNBC) and the tag tnbc-evidence.
Shares Triple-negative breast cancer roadmap: from a remainder defined by three negative tests to immunotherapy, antibody-drug conjugates and the residual disease problem, Triple-negative breast cancer (TNBC) and the tag tnbc-evidence.
Shares BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer roadmap: from a remainder defined by three negative tests to immunotherapy, antibody-drug conjugates and the residual disease problem, Triple-negative breast cancer (TNBC) and the tag tnbc-evidence.