Publications:

Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.

Frontiers In Oncology

Liu, Jiaying J; Chang, Xiaona X; Xiao, Guixiang G; Zhong, Jingmin J; Huang, Bo B; Zhang, Jiwei J; Gao, Beibei B; Peng, Gang G; Nie, Xiu X

Publication Date: 2022

Variant appearance in text: MLH1: 1896G>C; Glu632Asp

PubMed Link: 36457512

Variant Present in the following documents:

• Main text
• fonc-12-1014859.pdf

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Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology

Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M

Publication Date: 2022-10

Variant appearance in text: MLH1: 1896G>C; E632D

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.xlsx, sheet 1

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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: MLH1: 1896G>C; Glu632Asp

PubMed Link: 32659967

Variant Present in the following documents:

• Main text
• cancers-12-01848.pdf

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One

Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M

Publication Date: 2019

Variant appearance in text: MLH1: 1896G>C; Glu632Asp

PubMed Link: 30794603

Variant Present in the following documents:

• pone.0212370.s008.xlsx, sheet 1

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Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum.

Hereditary Cancer In Clinical Practice

Stulp, Rein P RP; Herkert, Johanna C JC; Karrenbeld, Arend A; Mol, Bart B; Vos, Yvonne J YJ; Sijmons, Rolf H RH

Publication Date: 2008-02-15

Variant appearance in text: MLH1: E632D

PubMed Link: 19706203

Variant Present in the following documents:

• Main text
• 1897-4287-6-1-15.pdf

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