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1.
Genet Med ; 24(5): 999-1007, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35172941

RESUMEN

PURPOSE: 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 the universal screening algorithm to detect LS and the diagnostic accuracy of MMR IHC by comparing results with a population-based genotype database. METHODS: All patients diagnosed with CRC or EC per the Icelandic Cancer Registry from 2017 to 2019 who had tumor MMR IHC performed were included. Pathology reports and patient charts were reviewed. MMR IHC stains were crossmatched with genotyping results obtained from the deCODE database. RESULTS: IHC staining was done on 404 patients with CRC and 74 patients with EC. A total of 61 (15.1%) patients with CRC and 15 (20.3%) patients with EC were MMR-deficient. MMR IHC had 88.9% sensitivity in identifying patients with LS and a positive predictive value of 10.7%. Only 50% of individuals were appropriately referred for genetic testing, leading to underdiagnosis of LS. CONCLUSION: Universal screening for LS using MMR protein IHC in CRC and EC accurately identified patients appropriate for genetic testing in a population with MSH6 and PMS2 LS predominance. Because of lack of referral to genetic counseling, only 50% of patients with LS were identified through the screening algorithm.


Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis , Neoplasias Colorrectales , Neoplasias Endometriales , Neoplasias Colorrectales/complicaciones , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/diagnóstico , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/patología , Reparación de la Incompatibilidad de ADN/genética , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismo , Neoplasias Endometriales/genética , Femenino , Humanos , Inestabilidad de Microsatélites , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto/genética , Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto/metabolismo , Homólogo 1 de la Proteína MutL/genética
2.
Laeknabladid ; 107(9): 398-405, 2021 Sep.
Artículo en Is | MEDLINE | ID: mdl-34673541

RESUMEN

In this article the incidence and mortality for cancer of the colon and rectum in Iceland is discussed. The two most common screening methods, faecal immunochemical test (FIT) and colonoscopy are compared and an estimate of cost and benefits for the Icelandic society will be made. The incidence of cancer of the colon and rectum has been increasing in Iceland in last decades but mortality has decreased and survival improved. However, more individuals die from cancer of the colon and rectum than from both breast- and cervical cancer added together. It is likely that screening for cancer of the colon and rectum, could prevent at least 6 of the 28 deaths related to those cancers, occurring yearly in Iceland in screening age, given a screening ages of 50-74 years. The extra cost for the Icelandic community due to the implementation of screening for cancer of the colon and rectum will be acceptable due to the lower cost of simpler treatments, lower cancer incidence and reduced mortality.


Asunto(s)
Neoplasias del Colon , Neoplasias Colorrectales , Anciano , Neoplasias del Colon/diagnóstico , Neoplasias del Colon/epidemiología , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/epidemiología , Detección Precoz del Cáncer , Humanos , Incidencia , Persona de Mediana Edad , Recto
3.
J Natl Compr Canc Netw ; 15(5): 588-594, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-28476738

RESUMEN

Background: Physical activity (PA) during and after cancer treatment can help with symptom management and reduce the risk of cancer recurrence. However, it is unclear what constitutes an optimal exercise program. In addition, provider and patient barriers exist to the recommendation and adoption of exercise as part of a cancer treatment plan. The goal of this study was to determine how providers and patients feel about exercise during cancer treatment and explore what the barriers to implementing such a program might be. Patients and Methods: Focus groups and interviews were held with patients with malignancy, both metastatic and nonmetastatic, and oncology providers. In total, 20 patients participated in either a focus group or an individual interview and 9 providers contributed to the focus group. An equal number of patients (n=10) were interviewed as attended a focus group. Audiotaped sessions were transcribed verbatim. Theme identification was independently coded by 4 coders and synthesized as a group. Results: Neither patient group recalled PA instruction from oncology providers during their cancer treatment. Most participants (95%) felt exercise is important during cancer treatment, citing overall well-being benefits versus improved disease outcome. Most patients (80%) preferred a home-based exercise program provided by the oncologist. Fatigue was the most cited barrier to regular exercise during treatment (50%). All providers acknowledged benefits of PA to patients, but not universally for all. More than half of providers (55%) preferred a referral system for exercise programs. Clinic visit time constraints and a perceived lack of expertise in the area of PA were common barriers to making exercise recommendations a routine part of the treatment plan. Conclusions: Patients with cancer and oncologists recognize the benefits of PA during treatment. Disagreement exists between to whom, how, and where exercise plans should be disseminated and implemented.


Asunto(s)
Terapia por Ejercicio/métodos , Terapia por Ejercicio/psicología , Relaciones Médico-Paciente , Anciano , Instituciones Oncológicas , Femenino , Grupos Focales , Humanos , Masculino , Persona de Mediana Edad , Percepción
5.
Acta Oncol ; 50(2): 179-86, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21231779

RESUMEN

BACKGROUND: The increasing incidence of cancer combined with prolonged survival times seen throughout the western world increases the need for rehabilitation. Diagnosis and treatment for cancer may have substantial effects on the patients' physical, psychological, social and existential well-being. The aim of this paper is to describe the current situation in cancer rehabilitation in the Nordic countries, the Netherlands and Germany. MATERIAL AND METHODS: Description of the current situation in cancer rehabilitation in the Nordic countries and literature review. RESULTS: Rehabilitation as defined by multiple organizations covers a multidimensional view on chronic disease and its effect on the patient's life. The rehabilitation systems in Denmark, Finland, Sweden, Germany and the Netherlands differ depending on the differing social security and health-care systems, but rehabilitation provided is largely based on a similar, multidimensional and multidisciplinary understanding of cancer rehabilitation. Research on rehabilitation efforts in European countries indicates that there is substantial evidence with regard to single interventions which can be part of cancer rehabilitation. DISCUSSION: In order to assure patients and families continuing quality of life, rehabilitation should be an integral and continuous part of all cancer care.


Asunto(s)
Neoplasias/rehabilitación , Europa (Continente)/epidemiología , Humanos , Modelos Biológicos , Programas Nacionales de Salud/organización & administración , Programas Nacionales de Salud/normas , Neoplasias/epidemiología , Países Escandinavos y Nórdicos/epidemiología
7.
Laeknabladid ; 100(2): 75-82, 2014 02.
Artículo en Is | MEDLINE | ID: mdl-24639430

RESUMEN

Colorectal cancer is the third most common cancer in the Western hemisphere and the incidence increases with increasing age. Most colorectal cancers are localized with or without lymph node metastases. Up to 20% of patients present with metastatic disease, most commonly to the liver. Surgery is the only curative therapy for localized colorectal cancer and adjuvant chemotherapy is usually recommended for patients with lymph node metastases. Surgery, radiation therapy and chemotherapy are the key components of rectal cancer therapy. Selected patients with recurrent and metastatic disease can be salvaged with surgery but chemotherapy remains the mainstay of therapy for advanced colorectal cancer. Substantial progress has been observed in the treatment of metastatic colorectal cancer in recent years.


Asunto(s)
Neoplasias Colorrectales , Factores de Edad , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/terapia , Terapia Combinada , Humanos , Incidencia , Factores de Riesgo , Resultado del Tratamiento
9.
Laeknabladid ; 94(4): 297-311, 2008 Apr.
Artículo en Is | MEDLINE | ID: mdl-18460729

RESUMEN

Lung cancer is the second most common cancer in Iceland and the most frequent cause of cancer related deaths. Smoking is by far the most important cause but familial factors also contribute. The symptoms of lung cancer are often subtle and the diagnosis, in about 70% of cases, is made when metastases have occurred. Curative surgical treatment is therefore only possible in about a third of the cases whereas other patients receive chemotherapy and/or radiation therapy. In recent years some important advances have been made in the diagnostic and therapeutic approaches to lung cancer. New imaging techniques have improved diagnosis and staging practices and consequently also treatment. Recent evidence suggests that screening with low dose CT may improve survival. New approaches to chemotherapy have been shown to improve survival and well being of patients with advanced disease. Chemotherapeutic agents are now being used in conjunction with surgery to reduce the risk of tumour spread. Furthermore, advances in surgical techniques have made resections possible in cases deemed inoperable in the past. In this review we present important advances in the diagnosis and treatment of lung cancer as reflected by recent literature that should be of interest to a wide variety of specialists.


Asunto(s)
Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/terapia , Quimioterapia Adyuvante , Predisposición Genética a la Enfermedad , Humanos , Islandia/epidemiología , Neoplasias Pulmonares/epidemiología , Neoplasias Pulmonares/etiología , Neoplasias Pulmonares/patología , Neumonectomía , Radioterapia Adyuvante , Factores de Riesgo , Fumar/efectos adversos , Factores de Tiempo , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
10.
J Gen Virol ; 85(Pt 2): 441-450, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-14769902

RESUMEN

Variants of hepatitis C virus (HCV) from a single infected blood donor and 13 viraemic recipients who were traced were examined by sequencing and cloning to determine the extent of virus diversity in hypervariable region 1. Serum-derived viral isolates were studied from the donor when his HCV infection was discovered in 1993, in his recipients that year (0.3-5 years post-transfusion) and 5 years later in the donor and six viraemic recipients who were still alive. Viral variants of broad diversity were readily demonstrated in the baseline samples of the donor (nucleotide p-distance 0.130), but significantly less (P<0.00003) diversity was observed in the recipients' first samples (p-distances within recipients 0.003-0.062). In the first blood samples of the recipients, many of the viral variants identified were closely related to a strain variant from the donor. In follow-up samples drawn 5 years later from the donor and six recipients, the p-distance among donor clones had increased (0.172, P<0.0005) compared with the recipients, who displayed significantly narrower quasispecies (0.011-0.086). A common finding was that recipients of blood components processed from the same donation differed substantially in persisting HCV infectious sequence. Markedly few changes leading to changes of amino acids had occurred during follow-up in four of six recipients. These results question the significance of the development of viral variants as a necessary phenomenon in the evolution of HCV and pathogenesis of the disease.


Asunto(s)
Donantes de Sangre/estadística & datos numéricos , Transfusión Sanguínea/estadística & datos numéricos , Evolución Molecular , Variación Genética , Hepacivirus/genética , Proteínas Virales/genética , Sustitución de Aminoácidos , Estudios de Seguimiento , Humanos , Estudios Longitudinales , Datos de Secuencia Molecular , Filogenia , Estudios Retrospectivos , Especificidad de la Especie , Suecia , Proteínas Virales/biosíntesis
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