Three cases of inconclusive as results of <i>BRCA</i> genetic testing

DOI
  • Yukishige Sawaka
    Department of Thoracic, Endocrine Surgery and Oncology, Tokushima University Graduate School
  • Inoue Hiroaki
    Department of Thoracic, Endocrine Surgery and Oncology, Tokushima University Graduate School
  • Inui Tomohiro
    Department of Thoracic, Endocrine Surgery and Oncology, Tokushima University Graduate School
  • Sasa Soichiro
    Department of Thoracic, Endocrine Surgery and Oncology, Tokushima University Graduate School
  • Misaki Mariko
    Department of Thoracic, Endocrine Surgery and Oncology, Tokushima University Graduate School
  • Goto Masakazu
    Department of Thoracic, Endocrine Surgery and Oncology, Tokushima University Graduate School
  • Morino Hiroyuki
    Clinical Genomic Center, Tokushima University Hospital
  • Yoshida Yukiko
    Clinical Genomic Center, Tokushima University Hospital
  • Miyamoto Yoko
    Clinical Genomic Center, Tokushima University Hospital
  • Takizawa Hiromitsu
    Department of Thoracic, Endocrine Surgery and Oncology, Tokushima University Graduate School

Bibliographic Information

Other Title
  • <i>BRCA</i>遺伝学的検査の結果inconclusiveとなった3例
Published
2024-10-25
DOI
  • 10.18976/jsht.24.2_147
Publisher
The Japanese Society for Hereditary Tumors

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

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