Cancers, Vol. 12, Pages 1848: Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants
Cancers, Vol. 12, Pages 1848: Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants
Cancers doi: 10.3390/cancers12071848
Authors:
Nathália de Angelis de Carvalho
Bianca Naomi Niitsuma
Vanessa Nascimento Kozak
Felipe D’almeida Costa
Mariana Petaccia de Macedo
Bruna Elisa Catin Kupper
Maria Letícia Gobo Silva
Maria Nirvana Formiga
Sahlua Miguel Volc
Samuel Aguiar Junior
Edenir Inez Palmero
José Cláudio Casali-da-Rocha
Dirce Maria Carraro
Giovana Tardin Torrezan
Lynch syndrome (LS) is a hereditary cancer-predisposing syndrome associated most frequently with epithelial tumors, particularly colorectal (CRC) and endometrial carcinomas (EC). The aim of this study was to investigate the relationship between sarcomas and LS by performing clinical and molecular characterization of patients presenting co-occurrence of sarcomas and tumors from the LS spectrum. We identified 27 patients diagnosed with CRC, EC, and other LS-associated tumors who had sarcomas in the same individuals or families. Germline genetic testing, mismatch repair (MMR) protein immunohistochemistry, microsatellite instability (MSI), and other molecular analyses were performed. Five LS patients presenting personal or family history of sarcomas were identified (3 MSH2 carriers and 2 MLH1), with 2 having Muir–Torre phenotypes. For two MSH2 carriers we confirmed the etiology of...
Source: Cancers - Category: Cancer & Oncology Authors: Nath ália de Angelis de Carvalho Bianca Naomi Niitsuma Vanessa Nascimento Kozak Felipe D ’almeida Costa Mariana Petaccia de Macedo Bruna Elisa Catin Kupper Maria Let ícia Gobo Silva Maria Nirvana Formiga Sahlua Miguel Volc Samuel Aguiar Junior Edenir Tags: Article Source Type: research
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