Publications:

Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire.

Familial Cancer

Schwermer, Miriam M; Behnert, Astrid A; Dörgeloh, Beate B; Ripperger, Tim T; Kratz, Christian P CP

Publication Date: 2021-10

Variant appearance in text: MSH6: 691delG; Val231Tyrfs*15

PubMed Link: 33651299

Variant Present in the following documents:

• Main text
• 10689_2021_Article_233.pdf

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Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire.

Familial Cancer

Schwermer, Miriam M; Behnert, Astrid A; Dörgeloh, Beate B; Ripperger, Tim T; Kratz, Christian P CP

Publication Date: 2021-10

Variant appearance in text: MSH6: 691delG; Val231Tyrfs*15

PubMed Link: 33651299

Variant Present in the following documents:

• Main text
• 10689_2021_Article_233.pdf

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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

Journal Of Medical Genetics

González-Acosta, Maribel M; Marín, Fátima F; Puliafito, Benjamin B; Bonifaci, Nuria N; Fernández, Anna A; Navarro, Matilde M; Salvador, Hector H; Balaguer, Francesc F; Iglesias, Silvia S; Velasco, Angela A; Grau Garces, Elia E; Moreno, Victor V; Gonzalez-Granado, Luis Ignacio LI; Guerra-García, Pilar P; Ayala, Rosa R; Florkin, Benoît B; Kratz, Christian C; Ripperger, Tim T; Rosenbaum, Thorsten T; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Ragab, Iman I; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Lobitz, Stephan S; Suerink, Manon M; Dahan, Karin K; Imschweiler, Thomas T; Demirsoy, Ugur U; Brunet, Joan J; Lázaro, Conxi C; Rueda, Daniel D; Wimmer, Katharina K; Capellá, Gabriel G; Pineda, Marta M

Publication Date: 2020-04

Variant appearance in text: MSH6: Val231Tyrfs*15

PubMed Link: 31494577

Variant Present in the following documents:

• jmedgenet-2019-106272supp001.xlsx, sheet 2
• jmedgenet-2019-106272supp001.xlsx, sheet 7

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Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.

Haematologica

Ripperger, Tim T; Beger, Carmela C; Rahner, Nils N; Sykora, Karl W KW; Bockmeyer, Clemens L CL; Lehmann, Ulrich U; Kreipe, Hans H HH; Schlegelberger, Brigitte B

Publication Date: 2010-05

Variant appearance in text: MSH6: 691delG; Val231TyrfsX15

PubMed Link: 20015892

Variant Present in the following documents:

• Main text

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