Journal of Hereditary Tumors
Online ISSN : 2435-6808
Case reports
Three cases of inconclusive as results of BRCA genetic testing
Sawaka YukishigeHiroaki InoueTomohiro InuiSoichiro SasaMariko MisakiMasakazu GotoHiroyuki MorinoYukiko YoshidaYoko MiyamotoHiromitsu Takizawa
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JOURNAL OPEN ACCESS

2024 Volume 24 Issue 2 Pages 147-152

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Abstract

 Recently, insurance coverage for BRCA genetic testing has expanded, and the number of cases tested has increased. The result for INCONCLUSIVE is a rare case. This means that it was impossible to make a decision due to technical problems. Three cases were reported as INCONCLUSIVE, of the 399 cases of BRCA genetic testing in our hospital.

 Case 1 is a 34 years-old woman. No family history of breast or ovarian cancer. She was diagnosed with right breast cancer, cT1cN0M0 cStage I. She underwent preoperative BRCA genetic testing, and the result was INCONCLUSIVE for BRCA1 exon 21 to 24. An additional report diagnosed with NEGATIVE was received about one month after the initial report. Case 2 is a 53 years-old woman who had right breast cancer at 34 years-old. She underwent surgery for local recurrence. Her mother had breast cancer in her 60s. Case 3 is a 74 years-old woman. Her mother had breast cancer in her 70s. She was diagnosed as right breast cancer, cT1bN0M0 cStage I, and underwent surgery. Their BRCA genetic test results were INCONCLUSIVE for BRCA1 exon13, but no additional report was received.

 Even if the result is INCONCLUSIVE, we should consider about the risk of HBOC and respond carefully in each case.

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© 2024 The Japanese Society for Hereditary Tumors
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