Publications:

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: 155_158delAAGA; Lys52Argfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Cancer Communications (London, England)

Ferrer-Avargues, Rosario R; Castillejo, María Isabel MI; Dámaso, Estela E; Díez-Obrero, Virginia V; Garrigos, Noemí N; Molina, Tatiana T; Codoñer-Alejos, Alan A; Segura, Ángel Á; Sánchez-Heras, Ana Beatriz AB; Castillejo, Adela A; Soto, José Luis JL

Publication Date: 2021-03

Variant appearance in text: MLH1: 155_158del; Lys52Argfs; rs587778923

PubMed Link: 33630411

Variant Present in the following documents:

• CAC2-41-218-s001.xlsx, sheet 1
• CAC2-41-218-s001.xlsx, sheet 3

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Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice

Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,

Publication Date: 2017

Variant appearance in text: MLH1: 155_158del; Lys52ArgfsX4

PubMed Link: 28127413

Variant Present in the following documents:

• Main text
• 13053_2017_Article_63.pdf

View BVdb publication page