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 3. Image findings. (A–C) Cervicothoracic computed tomography (CT) examination; (D) bone scintigraphy; (A) CT revealing multiple lung metastases (white arrow); (B) left supraclavicular lymph node metastases multiple lymph node metastases left supraclavicular lymph node (white arrow); (C) mediastinal lymph node (white arrow); (D) bone scintigraphy showed skull and right 5th ribs (black arrow).

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

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