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

González-Acosta, M; Marín, F; Puliafito, B; Bonifaci, N; Fernández, A; Navarro, M; Salvador, H; Balaguer, F; Iglesias, S; Velasco, A; Grau, Garces; Moreno, V; Gonzalez-Granado, LI; Guerra-García, P; Ayala, R; Florkin, B; Kratz, C; Ripperger, T; Rosenbaum, T; Januszkiewicz-Lewandowska, D; Azizi, AA; Ragab, I; Nathrath, M; Pander, HJ; Lobitz, S; Suerink, M; Dahan, K; Imschweiler, T; Demirsoy, UĞUR; Brunet, J; Lázaro, C; Rueda, D; Wimmer, K; Capellá, G; Pineda, M

doi:10.1136/jmedgenet-2019-106272

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

Atıf İçin Kopyala

González-Acosta M., Marín F., Puliafito B., Bonifaci N., Fernández A., Navarro M., ...Daha Fazla

Journal of medical genetics, cilt.57, ss.269-273, 2020 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 57
Basım Tarihi: 2020
Doi Numarası: 10.1136/jmedgenet-2019-106272
Dergi Adı: Journal of medical genetics
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
Sayfa Sayıları: ss.269-273
Anahtar Kelimeler: lynch syndrome, constitutional mismatch repair deficiency, microsatellite instability, next generation sequencing, highly sensitive methodologies, EUROPEAN CONSORTIUM CARE, LYNCH SYNDROME, GUIDELINES, DIAGNOSIS, ONSET, MLH1
Kocaeli Üniversitesi Adresli: Evet

Özet

Introduction Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are hereditary cancer syndromes associated with mismatch repair (MMR) deficiency. Tumours show microsatellite instability (MSI), also reported at low levels in non-neoplastic tissues. Our aim was to evaluate the performance of high-sensitivity MSI (hs-MSI) assessment for the identification of LS and CMMRD in non-neoplastic tissues.