Publications:

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Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

Bmc Medical Genomics

Hassanin, Emadeldin E; Spier, Isabel I; Bobbili, Dheeraj R DR; Aldisi, Rana R; Klinkhammer, Hannah H; David, Friederike F; Dueñas, Nuria N; Hüneburg, Robert R; Perne, Claudia C; Brunet, Joan J; Capella, Gabriel G; Nöthen, Markus M MM; Forstner, Andreas J AJ; Mayr, Andreas A; Krawitz, Peter P; May, Patrick P; Aretz, Stefan S; Maj, Carlo C

Publication Date: 2023-03-05

Variant appearance in text: MLH1: Q60X

PubMed Link: 36872334

Variant Present in the following documents:

• 12920_2023_1469_MOESM1_ESM.xlsx, sheet 1

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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: MLH1: 178C>T; Q60*

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

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Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.

Cancer Biology & Medicine

Li, Yan Y; Fan, Lihong L; Zheng, Jianming J; Nie, Xiu X; Sun, Yu Y; Feng, Qin Q; Lian, Shenyi S; Bai, Wenqi W; Cai, Weijing W; Yang, Yanan Y; Su, Bo B; Xi, Yanfeng Y; Lin, Dongmei D

Publication Date: 2022-06-01

Variant appearance in text: MLH1: 178C>T; Q60*

PubMed Link: 35638907

Variant Present in the following documents:

• cbm-19-1235-s001.pdf

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MLH1: Q60X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates.

Molecular Cancer

Pstrąg, Natalia N; Ziemnicka, Katarzyna K; Bluyssen, Hans H; Wesoły, Joanna J

Publication Date: 2018-08-08

Variant appearance in text: MLH1: Q60X

PubMed Link: 30089490

Variant Present in the following documents:

• Main text
• 12943_2018_Article_866.pdf

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Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.

Human Molecular Genetics

Kunstman, John W JW; Juhlin, C Christofer CC; Goh, Gerald G; Brown, Taylor C TC; Stenman, Adam A; Healy, James M JM; Rubinstein, Jill C JC; Choi, Murim M; Kiss, Nimrod N; Nelson-Williams, Carol C; Mane, Shrikant S; Rimm, David L DL; Prasad, Manju L ML; Höög, Anders A; Zedenius, Jan J; Larsson, Catharina C; Korah, Reju R; Lifton, Richard P RP; Carling, Tobias T

Publication Date: 2015-04-15

Variant appearance in text: MLH1: Q60X

PubMed Link: 25576899

Variant Present in the following documents:

• Main text

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