Cargando…

Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum

Lynch syndrome (HNPCC) is a dominantly inherited disorder characterized by germline defects in DNA mismatch repair (MMR) genes and the development of a variety of cancers, predominantly colorectal and endometrial. We present a 44-year-old woman who was shown to carry the truncating MSH2 gene mutatio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Stulp, Rein P, Herkert, Johanna C, Karrenbeld, Arend, Mol, Bart, Vos, Yvonne J, Sijmons, Rolf H
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2008
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2735069/ https://www.ncbi.nlm.nih.gov/pubmed/19706203 http://dx.doi.org/10.1186/1897-4287-6-1-15

Ejemplares similares

Clinical Vignette: Early-Onset Head and Neck Cancer: Beware of Fanconi Anaemia!
por: Sijmons, Rolf H, et al.
Publicado: (2004)

Novel germline MSH2 mutation in lynch syndrome patient surviving multiple cancers
por: Janavicius, Ramunas, et al.
Publicado: (2012)

An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation
por: Perrier, Renee L, et al.
Publicado: (2010)

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome
por: Schneider, Nayê Balzan, et al.
Publicado: (2018)

An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome
por: Vostrukhina, Olga A., et al.
Publicado: (2022)

Screening for germline DND1 mutations in testicular cancer patients
por: Sijmons, Rolf H., et al.
Publicado: (2010)

Synchronous endometrial and ovarian cancer in Lynch syndrome with a MSH2 germline mutation: A case report
por: Takeda, Takashi, et al.
Publicado: (2018)

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants
por: de Angelis de Carvalho, Nathália, et al.
Publicado: (2020)

Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family
por: Yang, Ciyu, et al.
Publicado: (2023)

A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome
por: Wu, Bin, et al.
Publicado: (2017)

Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients
por: Rashid, Muhammad Usman, et al.
Publicado: (2019)

Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome
por: Liccardo, Raffaella, et al.
Publicado: (2017)

Using Immunohistochemistry to Expand the Spectrum of Lynch Syndrome–Related Tumors
por: Farha, Natalie, et al.
Publicado: (2021)

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families
por: Grandval, Philippe, et al.
Publicado: (2013)

Cytoplasmic MSH2 Related to Genomic Deletions in the MSH2/EPCAM Genes in Colorectal Cancer Patients With Suspected Lynch Syndrome
por: Dong, Lin, et al.
Publicado: (2021)

Frequency and Variability of Genomic Rearrangements on MSH2 in Spanish Lynch Syndrome Families
por: Romero, Atocha, et al.
Publicado: (2013)

RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome
por: Conner, Blair R., et al.
Publicado: (2019)

Lynch syndrome-associated endometrial cancer patient with a rare novel germline likely pathogenic variant of MSH2 gene: A case report
por: Zumstein, L., et al.
Publicado: (2023)

Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant in MSH6 and Molecular Analysis: Report of a Case and Review of the Literature
por: Yang, Yu, et al.
Publicado: (2021)

Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome
por: Moreno-Ortiz, Jose Miguel, et al.
Publicado: (2016)

Novel MSH2 splice-site mutation in a young patient with Lynch syndrome
por: Liccardo, Raffaella, et al.
Publicado: (2018)

A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome
por: Li, Juyi, et al.
Publicado: (2020)

A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
por: Giannoni, Ana Paula, et al.
Publicado: (2023)

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families
por: Thodi, Georgia, et al.
Publicado: (2010)

Identification of new genetic alterations in MLH1, MSH2 and MSH6 using IHC and HRM analysis in Lynch syndrome-suspected patients
por: Mazurek, A, et al.
Publicado: (2012)

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome
por: Drost, Mark, et al.
Publicado: (2020)

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers
por: Sjursen, Wenche, et al.
Publicado: (2010)

Novel MSH2 Mutation in the First Report of a Vietnamese–American Kindred with Lynch Syndrome
por: Eskander, Ramez N., et al.
Publicado: (2015)

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity
por: Houlleberghs, Hellen, et al.
Publicado: (2017)

Telomere Instability in Lynch Syndrome Families Leads to Some Shorter Telomeres in MSH2+/- Carriers
por: Garrido-Navas, M. Carmen, et al.
Publicado: (2020)

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
por: Jia, Xiaoyan, et al.
Publicado: (2021)

Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation
por: Pinheiro, Manuela, et al.
Publicado: (2015)

A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome
por: Rashid, Muhammad U., et al.
Publicado: (2016)

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers
por: van der Post, R S, et al.
Publicado: (2010)

Lynch Syndrome-associated Mutations in MSH2 Alter DNA Repair and Checkpoint Response Functions In Vivo
por: Mastrocola, Adam S, et al.
Publicado: (2010)

Lynch Syndrome-Associated Endometrial Cancer With Combined EPCAM-MSH2 Deletion: A Case Report
por: Huang, Rong, et al.
Publicado: (2022)

Report of a germline double heterozygote in MSH2 and PALB2
por: Agiannitopoulos, Konstantinos, et al.
Publicado: (2020)

Loss or Somatic Mutations of hMSH2 Occur in Hereditary Nonpolyposis Colorectal Cancers with hMSH2 Germline Mutations
por: Lu, Shi‐Long, et al.
Publicado: (1996)

Loss of MSH6 and PMS2 immunohistochemical staining in tumour tissue of two individuals with a germline PMS2 mutation
por: Edwards, E, et al.
Publicado: (2012)

Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS
por: Vogelaar, Ingrid P., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_areso35ol6reci775trkgsdspf