Germline BRCA2 Pathogenic Variant in Primary Breast Cancer of a Down Syndrome Individual

Tsuyoshi Shinohara; Takuo Asoda; Yuta Nakano; Hiroyuki Yamada; Yoshiro Fujimori

doi:10.12659/AJCR.942208

29 December 2023 : Case report Japan

Germline BRCA2 Pathogenic Variant in Primary Breast Cancer of a Down Syndrome Individual

Rare coexistence of disease or pathology

Tsuyoshi Shinohara

^1ABEF*, Takuo Asoda^1A, Yuta Nakano^1A, Hiroyuki Yamada^1A, Yoshiro Fujimori^1A

DOI: 10.12659/AJCR.942208

Am J Case Rep 2023; 24:e942208

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Background Case Report Discussion Conclusions References:

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Figure 4. Postoperative patient’s clinical course. The process of treatment and the levels of tumor markers (CEA and CA15-3) are shown. Thirty-three months after the operation, BRCA analysis was performed under the first-line chemotherapy for multiple metastases of the breast cancer. The mutation of BRCA 2 was detected, and olaparib was administered for the second line chemotherapy. TAM – tamoxifen citrate; Bev – bevacizumab; PTX – paclitaxel.

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Germline BRCA2 Pathogenic Variant in Primary Breast Cancer of a Down Syndrome Individual

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