Publications:

Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome.

Genes

Simic, Dario D; Dummer, Reinhard R; Freiberger, Sandra N SN; Ramelyte, Egle E; Barysch, Marjam-Jeanette MJ

Publication Date: 2021-05-20

Variant appearance in text: MSH2: 495T>A; Tyr165*

PubMed Link: 34065301

Variant Present in the following documents:

• Main text
• genes-12-00781.pdf

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: MSH2: Y165*

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics

Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,

Publication Date: 2020

Variant appearance in text: MSH2: Tyr165*

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

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Sebaceous carcinoma arising within an ovarian mature cystic teratoma: A case report with discussion of clinical management and genetic evaluation.

Gynecologic Oncology Reports

Wield, Alyssa A; Hodeib, Melissa M; Khan, Mohammad M; Gubernick, Lindsay L; Li, Andrew J AJ; Kandukuri, Shivani S

Publication Date: 2018-11

Variant appearance in text: MSH-2: Y165*

PubMed Link: 30225334

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page