Publications:

Fertility-sparing treatment for endometrial cancer and atypical endometrial hyperplasia in patients with Lynch Syndrome: Molecular diagnosis after immunohistochemistry of MMR proteins.

Frontiers In Medicine

Catena, Ursula U; Della Corte, Luigi L; Raffone, Antonio A; Travaglino, Antonio A; Lucci Cordisco, Emanuela E; Teodorico, Elena E; Masciullo, Valeria V; Bifulco, Giuseppe G; Di Spiezio Sardo, Attilio A; Scambia, Giovanni G; Fanfani, Francesco F

Publication Date: 2022

Variant appearance in text: MSH2: Gln314del

PubMed Link: 36091691

Variant Present in the following documents:

• Main text
• fmed-09-948509.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: MSH2: Gln314del

PubMed Link: 31494577

Variant Present in the following documents:

• jmedgenet-2019-106272supp001.xlsx, sheet 1

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DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Ebiomedicine

Mäki-Nevala, Satu S; Valo, Satu S; Ristimäki, Ari A; Sarhadi, Virinder V; Knuutila, Sakari S; Nyström, Minna M; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P

Publication Date: 2019-01

Variant appearance in text: MSH2: Gln314del

PubMed Link: 30578081

Variant Present in the following documents:

• mmc1.pdf

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Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Buchanan, Daniel D DD; Tan, Yen Y YY; Walsh, Michael D MD; Clendenning, Mark M; Metcalf, Alexander M AM; Ferguson, Kaltin K; Arnold, Sven T ST; Thompson, Bryony A BA; Lose, Felicity A FA; Parsons, Michael T MT; Walters, Rhiannon J RJ; Pearson, Sally-Ann SA; Cummings, Margaret M; Oehler, Martin K MK; Blomfield, Penelope B PB; Quinn, Michael A MA; Kirk, Judy A JA; Stewart, Colin J CJ; Obermair, Andreas A; Young, Joanne P JP; Webb, Penelope M PM; Spurdle, Amanda B AB

Publication Date: 2014-01-10

Variant appearance in text: MSH2: Gln314del

PubMed Link: 24323032

Variant Present in the following documents:

• Main text

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