Publications:

Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant.

Human Genome Variation

Tomida, Akimasa A; Chiyonobu, Tomohiro T; Tokuda, Shinsaku S; Miyachi, Mitsuru M; Murashima, Kyoko K; Hirata, Makoto M; Nakagawa, Masanori M; Iehara, Tomoko T; Kuroda, Junya J; Takayama, Koichi K

Publication Date: 2022-03-08

Variant appearance in text: MSH2: Y678*

PubMed Link: 35260566

Variant Present in the following documents:

• Main text
• 41439_2022_Article_185.pdf

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Mismatch repair deficiency is rare in bone and soft tissue tumors.

Histopathology

Lam, Suk Wai SW; Kostine, Marie M; de Miranda, Noel F C C NFCC; Schöffski, Patrick P; Lee, Che-Jui CJ; Morreau, Hans H; Bovée, Judith V M G JVMG

Publication Date: 2021-10

Variant appearance in text: MSH2: Y678*

PubMed Link: 33825202

Variant Present in the following documents:

• HIS-79-509.pdf

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Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.

Cancers

de Angelis de Carvalho, Nathália N; Niitsuma, Bianca Naomi BN; Kozak, Vanessa Nascimento VN; Costa, Felipe D'almeida FD; de Macedo, Mariana Petaccia MP; Kupper, Bruna Elisa Catin BEC; Silva, Maria Letícia Gobo MLG; Formiga, Maria Nirvana MN; Volc, Sahlua Miguel SM; Aguiar Junior, Samuel S; Palmero, Edenir Inez EI; Casali-da-Rocha, José Cláudio JC; Carraro, Dirce Maria DM; Torrezan, Giovana Tardin GT

Publication Date: 2020-07-09

Variant appearance in text: MSH2: Tyr678Ter

PubMed Link: 32659967

Variant Present in the following documents:

• Main text
• cancers-12-01848.pdf

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