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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Figure 1. Image findings. (A) Breast ultrasonography revealed an irregularly shaped mass measuring 2.2×1.7×1.4 cm with an inhomogeneous inside and punctate high-echo contents. (B) Mammography showing pleomorphic calcifications spreading segmentary in the upper-inner quadrant of the left breast. (B1: MLO, B2: CC)

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

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