Publications:

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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: MSH6: 4061T>A; Leu1354Gln; rs267608140

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MSH6: L1354Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.

Plos One

Wielders, Eva A L EA; Houlleberghs, Hellen H; Isik, Gözde G; te Riele, Hein H

Publication Date: 2013

Variant appearance in text: MSH6: L1354Q

PubMed Link: 24040339

Variant Present in the following documents:

• Main text
• pone.0074766.pdf

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Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.

Human Mutation

Kantelinen, Jukka J; Kansikas, Minttu M; Candelin, Satu S; Hampel, Heather H; Smith, Betsy B; Holm, Liisa L; Kariola, Reetta R; Nyström, Minna M

Publication Date: 2012-08

Variant appearance in text: MSH6: 4061T>A; Leu1354Gln

PubMed Link: 22581703

Variant Present in the following documents:

• Main text

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Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Human Mutation

Kansikas, Minttu M; Kariola, Reetta R; Nyström, Minna M

Publication Date: 2011-01

Variant appearance in text: MSH6: 4061T>A; L1354Q

PubMed Link: 21120944

Variant Present in the following documents:

• Main text
• humu0032-0107.pdf

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MSH6 missense mutations are often associated with no or low cancer susceptibility.

British Journal Of Cancer

Kariola, R R; Hampel, H H; Frankel, W L WL; Raevaara, T E TE; de la Chapelle, A A; Nyström-Lahti, M M

Publication Date: 2004-10-04

Variant appearance in text: MSH6: L1354Q

PubMed Link: 15354210

Variant Present in the following documents:

• Main text
• 91-6602129a.pdf

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