Cargando…

Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort

Approximately 5% of patients with colorectal cancer (CRC) have a Mendelian predisposition for the disease. Identification of the disease‐causing genetic variant enables carrier testing and tailored cancer prevention within affected families. To determine the panorama and genetic variation of Mendeli...

Descripción completa

Detalles Bibliográficos
Autores principales:	Svensson, Sara, Zagoras, Theofanis, Aravidis, Christos, Askmalm, Marie Stenmark, Björck, Erik, Borg, Åke, Kuchinskaya, Ekaterina, Nilbert, Mef, Nordling, Margareta, Rohlin, Anna, Silander, Gustav, Lagerstedt‐Robinson, Kristina, Gebre‐Medhin, Samuel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9540764/ https://www.ncbi.nlm.nih.gov/pubmed/35430768 http://dx.doi.org/10.1002/gcc.23049

Ejemplares similares

Genetic anticipation in Swedish Lynch syndrome families
por: von Salomé, Jenny, et al.
Publicado: (2017)

Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
por: Rohlin, Anna, et al.
Publicado: (2016)

A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families
por: Karimi, Masoud, et al.
Publicado: (2018)

A mutation in POLE predisposing to a multi-tumour phenotype
por: ROHLIN, ANNA, et al.
Publicado: (2014)

GREM 1 and POLE variants in hereditary colorectal cancer syndromes
por: Rohlin, Anna, et al.
Publicado: (2015)

CHEK2 1100delC in patients with metachronous cancers of the breast and the colorectum
por: Isinger, Anna, et al.
Publicado: (2006)

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
por: Olkinuora, Alisa, et al.
Publicado: (2018)

Whole-Body MRI Surveillance—Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53)
por: Omran, Meis, et al.
Publicado: (2022)

Genetic Profiling Differentiates Second Primary Tumors from Metastases in Adult Metachronous Soft Tissue Sarcoma
por: Fernebro, Josefin, et al.
Publicado: (2008)

Distinct Gene Expression Signatures in Lynch Syndrome and Familial Colorectal Cancer Type X
por: Dominguez-Valentin, Mev, et al.
Publicado: (2013)

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
por: Öfverholm, Anna, et al.
Publicado: (2023)

Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis
por: Rohlin, A, et al.
Publicado: (2011)

Supporter or obstructer; experiences from contact person activities among Swedish women with breast cancer
por: Carlsson, Christina, et al.
Publicado: (2005)

Family perspectives in lynch syndrome becoming a family at risk, patterns of communication and influence on relations
por: Bartuma, Katarina, et al.
Publicado: (2012)

Patient representatives’ views on patient information in clinical cancer trials
por: Dellson, Pia, et al.
Publicado: (2016)

Experiences from treatment-predictive KRAS testing; high mutation frequency in rectal cancers from females and concurrent mutations in the same tumor
por: Jönsson, Mats, et al.
Publicado: (2009)

Performance of standardized cancer patient pathways in Sweden visualized using observational data and a state-transition model
por: Borg, Sixten, et al.
Publicado: (2023)

Implementation of the measure of case discussion complexity to guide selection of prostate cancer patients for multidisciplinary team meetings
por: Wihl, Jessica, et al.
Publicado: (2023)

A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients
por: Wendt, Camilla, et al.
Publicado: (2021)

Pancreatic cancer occurrence in Ferguson-Smith syndrome
por: Saleh, Karim, et al.
Publicado: (2018)

Captured voices in cancer: experiences from networking between individuals with experiential and professional knowledge
por: Carlsson, Christina, et al.
Publicado: (2007)

Predominance of CIN versus MSI in the development of rectal cancer at young age
por: Fernebro, Eva, et al.
Publicado: (2002)

Benefits, barriers and opinions on multidisciplinary team meetings: a survey in Swedish cancer care
por: Rosell, Linn, et al.
Publicado: (2018)

Patients’ and physicians’ disagreement on patients’ understanding of clinical cancer trial information: a pairwise pilot study of mirroring subjective assessments compared with objective measurements
por: Dellson, Pia, et al.
Publicado: (2019)

Health Professionals’ Views on Key Enabling Factors and Barriers of National Multidisciplinary Team Meetings in Cancer Care: A Qualitative Study
por: Rosell, Linn, et al.
Publicado: (2020)

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
por: Lagerstedt-Robinson, Kristina, et al.
Publicado: (2022)

Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels
por: Domanska, Katarina, et al.
Publicado: (2009)

Sense of coherence and self-concept in Lynch syndrome
por: Petersen, Helle Vendel, et al.
Publicado: (2013)

Co-afflicted but invisible: A qualitative study of perceptions among informal caregivers in cancer care
por: Tranberg, Mattias, et al.
Publicado: (2019)

Colorectal cancer in adolescents and young adults with Lynch syndrome: a Danish register-based study
por: Durhuus, Jon Ambæk, et al.
Publicado: (2021)

p53 as a prognostic factor in stage I breast cancer. South-East Sweden Breast Cancer Group.
por: Stenmark-Askmalm, M., et al.
Publicado: (1995)

Porokeratosis is one of the most common genodermatoses and is associated with an increased risk of keratinocyte cancer and melanoma
por: Inci, Rahime, et al.
Publicado: (2022)

Delays in the Management of Retroperitoneal Sarcomas
por: Seinen, Jojanneke, et al.
Publicado: (2010)

Socioeconomic inequalities in breast cancer incidence and mortality in Europe—a systematic review and meta-analysis
por: Lundqvist, Adam, et al.
Publicado: (2016)

Function, information, and contributions: An evaluation of national multidisciplinary team meetings for rare cancers
por: Rosell, Linn, et al.
Publicado: (2019)

Registered nurses’ views on consideration of patient perspectives during multidisciplinary team meetings in cancer care
por: Rosell, Linn, et al.
Publicado: (2022)

Efficient and reproducible identification of mismatch repair deficient colon cancer: validation of the MMR index and comparison with other predictive models
por: Joost, Patrick, et al.
Publicado: (2013)

Response to Immune Checkpoint Inhibitors Is Affected by Deregulations in the Antigen Presentation Machinery: A Systematic Review and Meta-Analysis
por: Rasmussen, Maria, et al.
Publicado: (2022)

Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden
por: ZAGORAS, Theofanis, et al.
Publicado: (2023)

Matching and merging
por: Sachs, Kirsten
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_o8e37pq8ku94hv9fi2dfl4vgn2