Psychological Resistance to Receiving <I>BRCA2</I> Mutation-positive Results—A Case Study—

  • NISHIYAMA Yasuyuki
    Department of Breast Oncology, Kumamoto Shinto General Hospital Department of Breast Surgery, Fukuoka Wajiro Hospital
  • NISHIMURA Reiki
    Department of Breast Oncology, Kumamoto Shinto General Hospital
  • OSAKO Tomofumi
    Department of Breast Oncology, Kumamoto Shinto General Hospital
  • NAKANO Masahiro
    Department of Breast Oncology, Kumamoto Shinto General Hospital
  • NAGAI Ryuji
    Department of Obstetrics and Gynecology, Kumamoto Shinto General Hospital
  • ARIMA Nobuyuki
    Department of Pathology, Kumamoto Shinto General Hospital

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Other Title
  • 遺伝学的検査結果開示に関し意志決定が困難であった<I>BRCA2</I>変異陽性乳癌の1例
  • 症例 遺伝学的検査結果開示に関し意志決定が困難であったBRCA2変異陽性乳癌の1例
  • ショウレイ イデンガクテキ ケンサ ケッカ カイジ ニ カンシ イシ ケッテイ ガ コンナン デ アッタ BRCA2 ヘンイ ヨウセイ ニュウガン ノ 1レイ

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A 66-year-old woman underwent breast-conserving surgery with axillary dissection (Bp + Ax) for breast cancer. The patient and her daughter(A) were informed by relatives that breast and ovarian cancers are hereditary conditions within the family. A detailed inspection of the family's medical history revealed that there were one case of breast cancer, three cases of ovarian cancer, and one case of prostate cancer in the first-degree relatives. Moreover, the patient had monozygotic twin daughters, and another daughter(B) already had breast cancer. After completing genetic counseling, a BRCA1/2 genetic test for proband was conducted, and the BRCA2, c. 9118 - 2 A> G mutation was identified.<BR>The patient declined to access to the results of the genetic test, and therefore, the results were only disclosed to the daughter(A). However, the older sister of the patient died shortly after because of the recurrence of ovarian cancer, and the patient finally decided to be disclosed the genetic test results 10 months after the first counseling session and 6 months after the genetic test. In conclusion, the mental status of the patient undergoing genetic testing constantly fluctuates. Therefore, staff continuous support for a patient is needed.

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