Publications:

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.

European Journal Of Human Genetics : Ejhg

Morak, Monika M; Pineda, Marta M; Martins, Alexandra A; Gaildrat, Pascaline P; Tubeuf, Hélène H; Drouet, Aurélie A; Gómez, Carolina C; Dámaso, Estela E; Schaefer, Kerstin K; Steinke-Lange, Verena V; Koehler, Udo U; Laner, Andreas A; Hauchard, Julie J; Chauris, Karine K; Holinski-Feder, Elke E; Capellá, Gabriel G

Publication Date: 2022-09

Variant appearance in text: MLH1: Glu633_Glu663del

PubMed Link: 35676339

Variant Present in the following documents:

• Main text
• 41431_2022_Article_1106.pdf
• 41431_2022_1106_MOESM4_ESM.pdf

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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: MLH1: Glu633_Glu663del

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

European Journal Of Human Genetics : Ejhg

Morak, Monika M; Schaefer, Kerstin K; Steinke-Lange, Verena V; Koehler, Udo U; Keinath, Susanne S; Massdorf, Trisari T; Mauracher, Brigitte B; Rahner, Nils N; Bailey, Jessica J; Kling, Christiane C; Haeusser, Tanja T; Laner, Andreas A; Holinski-Feder, Elke E

Publication Date: 2019-12

Variant appearance in text: MLH1: Glu633_Glu663del

PubMed Link: 31332305

Variant Present in the following documents:

• Main text

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A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Bmc Cancer

Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M

Publication Date: 2017-09-05

Variant appearance in text: MLH1: Glu633_Glu663del

PubMed Link: 28874130

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3599.pdf

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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: MLH1: 1897_1989del; E633_E663del

PubMed Link: 21120944

Variant Present in the following documents:

• Main text
• humu0032-0107.pdf

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