Publications:

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Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer

Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y

Publication Date: 2022-04-21

Variant appearance in text: MLH1: 431G>A

PubMed Link: 35449176

Variant Present in the following documents:

• 41523_2022_417_MOESM2_ESM.xlsx, sheet 1

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Mechanisms of targeted therapy resistance in a pediatric glioma driven by ETV6-NTRK3 fusion.

Cold Spring Harbor Molecular Case Studies

Keddy, Clare C; Neff, Tanaya T; Huan, Jianya J; Nickerson, Joshua P JP; Beach, Catherine Z CZ; Akkari, Yassmine Y; Ji, Jianling J; Moore, Stephen S; Nazemi, Kellie J KJ; Corless, Christopher L CL; Beadling, Carol C; Woltjer, Randy R; Cho, Yoon-Jae YJ; Wood, Matthew D MD; Davare, Monika A MA

Publication Date: 2021-10

Variant appearance in text: MLH1: 431G>A; G144D

PubMed Link: 34429303

Variant Present in the following documents:

• supp_mcs.a006109_Supplemental_Tables_.xlsx, sheet 5

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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: HNPCC2: G144D

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications

Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C

Publication Date: 2020-05-04

Variant appearance in text: MLH1: G144D

PubMed Link: 32366847

Variant Present in the following documents:

• 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2

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Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Oncotarget

Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P

Publication Date: 2020-04-07

Variant appearance in text: MLH1: 431G>A; Gly144Asp

PubMed Link: 32292574

Variant Present in the following documents:

• oncotarget-11-1244-s002.xlsx, sheet 1

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Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Martinez, Sandra L SL; Kolodner, Richard D RD

Publication Date: 2010-03-16

Variant appearance in text: MLH1: G144D

PubMed Link: 20176959

Variant Present in the following documents:

• Main text

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