Výsledky vyhledávání - "Sigurdis, Haraldsdottir"

Akademický článek

Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8

Autor: GiWon Shin, Stephanie U. Greer, Erik Hopmans, Susan M. Grimes, HoJoon Lee, Lan Zhao, Laura Miotke, Carlos Suarez, Alison F. Almeda, Sigurdis Haraldsdottir, Hanlee P. Ji

Publikováno v: Genome Medicine, Vol 13, Iss 1, Pp 1-18 (2021)

Abstract We developed a sensitive sequencing approach that simultaneously profiles microsatellite instability, chromosomal instability, and subclonal structure in cancer. We assessed diverse repeat motifs across 225 microsatellites on colorectal carc

Externí odkaz: https://doaj.org/article/f712076aec7c479ebafdae1d3b8bdf16

Zobrazit plný text záznamu

Akademický článek

Implementation of a cloud-based electronic patient-reported outcome (ePRO) platform in patients with advanced cancer

Publikováno v: Journal of Patient-Reported Outcomes, Vol 5, Iss 1, Pp 1-11 (2021)

Abstract Background Patient reported outcomes (PROs) have been associated with improved symptom management and quality of life in patients with cancer. However, the implementation of PROs in an academic clinical practice has not been thoroughly descr

Externí odkaz: https://doaj.org/article/dbafc61564464849b330b75953721f50

Zobrazit plný text záznamu

Germline Testing for Individuals with Pancreatic Adenocarcinoma and Novel Genetic Risk Factors

Autor: Anu, Chittenden, Sigurdis, Haraldsdottir, Ethan, Chen, Sahar, Nissim

Publikováno v: Hematology/Oncology Clinics of North America. 36:943-960

Germline genetic variants implicated in increasing lifetime risk of pancreatic cancer (PDAC) have been identified in ∼4% to 10% of cases. Clinical features such as family history have poor sensitivity in identifying carriers of these risk variants.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d58bbbde9dd2d05b0a2811d57ab3921
https://doi.org/10.1016/j.hoc.2022.07.008

Zobrazit plný text záznamu

Akademický článek

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)

Lynch syndrome is characterized by predisposition to colorectal cancer and mutations in genes involved in mismatch repair. Here, the authors use whole genome sequencing and immunohistochemistry of mismatch repair proteins to show a high prevalence of

Externí odkaz: https://doaj.org/article/892427e1e8434dbab0cf538d0c78f168

Zobrazit plný text záznamu

Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome

Autor: Haukur Einarsson, Johanna Run Runarsdottir, Thordur Tryggvason, Petur Snaebjornsson, Agnes Smaradottir, Vigdis Stefansdottir, Asgeir Thoroddsen, Reynir Arngrimsson, Jon Gunnlaugur Jonasson, Sigurdis Haraldsdottir

Publikováno v: Genetics in Medicine. 24:999-1007

Universal screening for Lynch syndrome (LS) on resected colorectal carcinomas (CRCs) and endometrial carcinomas (ECs) was implemented in Iceland in 2017 using immunohistochemistry (IHC) for mismatch repair (MMR) proteins. We examined the efficacy of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1789a55d70400134f15617b629337d9
https://doi.org/10.1016/j.gim.2022.01.012

Zobrazit plný text záznamu

Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS

Autor: Ingrid P. Vogelaar, Stephanie Greer, Fan Wang, GiWon Shin, Billy Lau, Yajing Hu, Sigurdis Haraldsdottir, Rocio Alvarez, Dennis Hazelett, Peter Nguyen, Francesca P. Aguirre, Maha Guindi, Andrew Hendifar, Jessica Balcom, Anna Leininger, Beth Fairbank, Hanlee Ji, Megan P. Hitchins

Publikováno v: Cancers; Volume 15; Issue 1; Pages: 228
Cancers, vol 15, iss 1

Lynch syndrome (LS), caused by heterozygous pathogenic variants affecting one of the mismatch repair (MMR) genes (MSH2, MLH1, MSH6, PMS2), confers moderate to high risks for colorectal, endometrial, and other cancers. We describe a four-generation, 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::061eaf60f38d8f1ffee10414ce8f65ed

Zobrazit plný text záznamu

Plný text ve formátu HTML

Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8

Autor: Hanlee P. Ji, Lan Zhao, Susan M. Grimes, Stephanie U. Greer, Carlos Suárez, Erik S. Hopmans, Alison Almeda, GiWon Shin, Hojoon Lee, Laura Miotke, Sigurdis Haraldsdottir

Publikováno v: Genome Medicine, Vol 13, Iss 1, Pp 1-18 (2021)
Genome Medicine

Colorectal carcinomas (CRCs) which have lost DNA mismatch repair display hypermutability evident in a molecular phenotype called microsatellite instability (MSI). These mismatch repair deficient tumors are thought to lack widespread genomic instabili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b68d90ab0c2a44b6b7ab53ee66ed201
https://doaj.org/article/f712076aec7c479ebafdae1d3b8bdf16

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání