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1.
Br J Cancer ; 101(12): 2048-54, 2009 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-19920816

RESUMO

BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. METHODS: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. RESULTS: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers. CONCLUSION: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.


Assuntos
Proteínas de Ligação a DNA/genética , Genes BRCA1 , Genes BRCA2 , Heterozigoto , Mutação , Polimorfismo de Nucleotídeo Único , Estudos de Coortes , Feminino , Humanos , Estudos Retrospectivos
2.
Br J Cancer ; 98(5): 1001-5, 2008 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-18268493

RESUMO

This study estimated the risk of second primary malignancies after Hodgkin's lymphoma (HL) in relation to family history of cancer, age at diagnosis and latency, among 6946 patients treated for HL in Sweden in 1965-1995 identified through the Swedish Cancer Register (SCR). First-degree relatives (FDRs) to the HL patients and their malignancies were then ascertained together with their malignancies through the Multi-Generation Registry and SCR. The HL patient cohort was stratified on the number of FDRs with cancer, and standardised incidence ratios (SIRs) of developing SM were analysed. In the HL cohort, 781 SM were observed 1 year or longer after HL diagnosis. The risk for developing SM increased with the number of FDRs with cancer, SIRs being 2.26, 3.01, and 3.45 with 0, 1, or >or=2 FDRs with cancer, respectively. Hodgkin's lymphoma long-term survivors treated at a young age with a family history of cancer carry an increased risk for developing SM and may represent a subgroup where standardised screening for the most common cancer sites could be offered in a stringent surveillance programme.


Assuntos
Doença de Hodgkin/complicações , Segunda Neoplasia Primária/etiologia , Neoplasias/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Doença de Hodgkin/genética , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Segunda Neoplasia Primária/epidemiologia , Fatores de Risco
3.
Clin Neuropathol ; 23(1): 21-7, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-14986930

RESUMO

Brain tumors, in general, display a multidrug-resistant phenotype. This study evaluated the immunohistochemical expression and distribution of P-glycoprotein (Pgp), multidrug resistance protein (MRP1), lung resistance protein (LRP) and O6 methylguanine-DNA methyltransferase (MGMT) in low- and high-grade astrocytoma, oligodendroglioma and in different subgroups of meningioma. The results revealed a marked heterogeneity in the expression and distribution among the analyzed tumors. In astrocytoma and oligodendroglioma, Pgp and MRP1 were observed in the capillary endothelium and in scattered tumor cells, whereas LRP occurred only in tumor cells. A pronounced expression of MGMT was found independent of the histopathological grade. An enhanced expression of MRP1 and LRP in astrocytoma and oligodendroglioma were more often evident in older patients (> 50 years). Survival analysis suggested a markedly decreased overall survival for patients suffering from low-grade glioma overexpressing Pgp. In meningioma, a heterogeneous expression of Pgp, MRP1, LRP and MGMT was seen with the most prominent staining localized to the capillary endothelium. Pgp was significantly more often overexpressed (p < 0.05) in transitional compared to meningothelial meningioma. The marked heterogeneity in the expression suggests that analysis of these factors can be of importance in the selection of individualized chemotherapy, regardless of tumor type.


Assuntos
Membro 1 da Subfamília B de Cassetes de Ligação de ATP/metabolismo , Neoplasias Encefálicas/metabolismo , Glioma/metabolismo , Meningioma/metabolismo , Proteínas de Neoplasias/metabolismo , O(6)-Metilguanina-DNA Metiltransferase/metabolismo , Partículas de Ribonucleoproteínas em Forma de Abóbada/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Encéfalo/metabolismo , Criança , Pré-Escolar , Resistencia a Medicamentos Antineoplásicos/fisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
4.
Acta Oncol ; 40(5): 633-7, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11669337

RESUMO

Rare inherited syndromes that to some extent explain familial glioma include Turcot's syndrome, Li-Fraumeni syndrome and neurofibromatosis types I and II. The majority of families with glioma do not meet the clinical criteria for any of these syndromes. In order to study the genetic origin of familial glioma, tumour DNA (n = 35) or blood samples (n = 8) were collected from 25 families. The glioma tumours were tested for microsatellite instability (MSI) with two markers, BAT25 and BAT26, since glioma is associated with hereditary non-polyposis colon cancer (HNPCC) in Turcot's syndrome. Furthermore, p53 was screened from blood DNA (exons 2-11) with temporal temperature gradient electrophoresis (TTGE) since germline mutations in p53 are seen in Li-Fraumeni syndrome. In gliomas, there is a wide variety of somatic mutations, such as, for instance, in p53, the epidermal growth factor receptor (EGFR) and p16. The tumour suppressor gene PTEN is also often somatically mutated in glioma, therefore it is attractive as a candidate gene for germline mutations in familial glioma. Blood DNA was directly sequenced for mutations in PTEN exons 1-9. The analysis showed that no mutations were found in either of the studied tumour suppressor genes, and no MSI-positive tumours were found. A common polymorphism in p53 at codon 72 (arginine/proline) was found in 6/8 of the patients. Apparently, mutation in the tested tumour suppressor genes or DNA mismatch repair genes does not explain the familial glioma observed in these families.


Assuntos
Neoplasias Encefálicas/genética , Genes p53 , Glioma/genética , Repetições de Microssatélites , Síndromes Neoplásicas Hereditárias/genética , Monoéster Fosfórico Hidrolases/genética , Proteínas Supressoras de Tumor/genética , Neoplasias Encefálicas/epidemiologia , Códon/genética , Estudos de Coortes , Neoplasias Colorretais Hereditárias sem Polipose/genética , Análise Mutacional de DNA , Saúde da Família , Feminino , Marcadores Genéticos , Glioma/epidemiologia , Humanos , Síndrome de Li-Fraumeni/genética , Masculino , PTEN Fosfo-Hidrolase , Linhagem , Polimorfismo Genético , Suécia/epidemiologia
5.
Br J Cancer ; 84(3): 429-34, 2001 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-11161412

RESUMO

The present study performed a segregation analysis of a cohort of first-degree relatives (FDR) of glioma patients. The families with two or more gliomas were also expanded to determine if any more gliomas could be detected, and if any other types of cancers were associated. These glioma-prone families (n = 24/432) were extended to include first-, second- and third-degree relatives (n = 807) and a cohort was assembled, the standardized incidence risk for other types of cancer calculated and the pedigrees investigated for a possible mode of inheritance. A segregation analysis of the 2141 FDR in 297 families, performed using the Pointer software, did not clearly reject a multifactorial model chi(2)(3) = 6.13, P< 0.2. However, when letting all parameters be free, the recessive model provided the best fit. In the extended families, no increased risk of other types of cancer was found. This population-based study proposes that familial glioma occurs in about 5% of all glioma cases and that 1% have a possible autosomal dominant inheritance. This first segregation analysis performed in familial glioma must be cautiously interpreted, but an autosomal recessive gene provided the best fit, which could possibly explain 2% of all glioma cases.


Assuntos
Neoplasias Encefálicas/genética , Glioma/genética , Adolescente , Adulto , Idoso , Neoplasias Encefálicas/epidemiologia , Neoplasias Encefálicas/mortalidade , Criança , Pré-Escolar , Estudos de Coortes , Saúde da Família , Feminino , Glioma/epidemiologia , Glioma/mortalidade , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Linhagem , Sistema de Registros/estatística & dados numéricos , Estatística como Assunto , Suécia/epidemiologia
6.
Int J Cancer ; 85(1): 78-81, 2000 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-10585587

RESUMO

In a previous study, a decreased risk for first degree relatives of patients with astrocytoma has been observed for breast and colorectal cancer. The aim of this study was to examine the associations between breast and colorectal cancer as first primary cancer and the risk of developing astrocytoma and meningioma as a second primary cancer. Two cohorts were constructed, one from all cases with breast cancer (1,036,466 person-years) and one from all cases of colorectal cancer (572,422 person-years) in Sweden during the period 1958-1994. The risk of developing astrocytoma and meningioma after breast or colorectal cancer was calculated. A significant increased risk for developing meningioma was seen after colorectal cancer, standardized incidence ratio (SIR) 1.60 confidence interval (CI; 1.32-1.94) and after breast cancer, SIR 1. 57 CI (1.36-1.81). The previously observed decreased risk for astrocytoma could not be verified in this study. A novel association between meningioma and colorectal cancer, particularly in females, was observed, which justifies further studies to evaluate common aetiological factors.


Assuntos
Astrocitoma/epidemiologia , Neoplasias Encefálicas/epidemiologia , Neoplasias da Mama/epidemiologia , Neoplasias Colorretais/epidemiologia , Meningioma/epidemiologia , Segunda Neoplasia Primária/epidemiologia , Idoso , Estudos de Coortes , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Medição de Risco , Fatores Sexuais , Fatores de Tempo
7.
Pediatr Nephrol ; 14(3): 208-13, 2000 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10752759

RESUMO

This retrospective study reports seven children and three young adults (aged 11-30 years) who suffered from Wegener granulomatosis. Nine represent consecutive patients admitted to the Division of Nephrology over a period of 23 years. All patients had respiratory tract symptoms and renal involvement on admission. In several patients infiltrates on chest X-ray developed within 2 weeks of onset of symptoms. All patients survived. The median observation period was 9 years (range 13 months to 23 years). One patient progressed to end-stage renal disease. Nine patients initially received cyclophosphamide and steroids. After a median period of 9 months (range 6-31 months) the cyclophosphamide was replaced by azathioprine. Relapses occurred after a median of 28 months (range 4-120 months) in 80% of patients, in six of the eight patients causing a definite decrease in kidney function. We believe that early diagnosis and initiation of therapy reduce the extent of organ damage. Since relapses are frequent, these patients should be evaluated frequently.


Assuntos
Granulomatose com Poliangiite/complicações , Adolescente , Adulto , Reações Antígeno-Anticorpo , Azatioprina/uso terapêutico , Criança , Ciclofosfamida/uso terapêutico , Progressão da Doença , Feminino , Granulomatose com Poliangiite/tratamento farmacológico , Granulomatose com Poliangiite/epidemiologia , Granulomatose com Poliangiite/imunologia , Humanos , Imunossupressores/uso terapêutico , Incidência , Rim/fisiopatologia , Nefropatias/etiologia , Masculino , Recidiva , Doenças Respiratórias/etiologia , Estudos Retrospectivos , Resultado do Tratamento
8.
Int J Cancer ; 81(3): 366-70, 1999 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-10209950

RESUMO

This population-based cohort study investigated the occurrence of familial astrocytoma among first-degree relatives of patients with astrocytoma diagnosed between 1985 and 1993 in the northern region of Sweden. The 432 cases received a questionnaire. They were asked to provide names and cancer diagnoses of first-degree relatives. Of the 297 answering, a cohort was constructed of their 1,890 first-degree relatives (FDR). A significantly increased risk [standardized incidence ratio, SIR = 2.12, 95% confidence interval (CI) = 1.18-3.49] was shown for developing primary brain tumors (PBT). In 4.7% (14/297) of the families, a PBT was found. Interestingly, the increased risk was for astrocytoma only (SIR = 3.12, 95% CI 1.42-5.92), and not for other PBT (SIR 0.90, 95% CI 0.18-2.64). When the cohort was divided according to the median age of proband, most of the increased risk was restricted to the younger cohort (SIR = 4.71, 95% CI 1.52-10.99). Surprisingly, a significantly decreased risk for breast cancer and colon cancer was shown. The finding that the increased risk is restricted to astrocytoma only is a novel one. This study implies that familial aggregation of astrocytoma exists; the familial clustering occurs in a small fraction of astrocytoma, and might be explained by inherited factors.


Assuntos
Astrocitoma/genética , Neoplasias Encefálicas/genética , Adulto , Estudos de Coortes , Humanos , Pessoa de Meia-Idade , Risco , Suécia/epidemiologia
9.
Eur J Cancer ; 31A(13-14): 2347-53, 1995 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-8652268

RESUMO

In this study, we evaluated whether supplementation with antioxidant vitamins can reduce the adverse effects of irradiation on the salivary glands in the rat. Four groups of adult Sprague-Dawley rats were given a basic diet providing 0.6 mg alpha-tocopherol and no beta-carotene per day. In two groups the basic diet was supplemented with 3.4 mg alpha-tocopherol and 6 mg beta-carotene per day from 14 days before irradiation until 12 days after completed irradiation. One group of rats given basic diet and one group given supplemented diet were irradiated with 7 Gy daily for five consecutive days. Isoproterenol and pilocarpine-stimulated whole saliva was collected from all rats 2, 4 and 26 weeks after irradiation. Vitamin-supplemented irradiated rats had higher secretion rates on all three occasions compared with those of irradiated rats given basic diet. The changes in saliva composition seen in irradiated rats were less accentuated in vitamin-supplemented, irradiated rats. The proportions of acinar cells were significantly decreased both in parotid and submandibular glands 26 weeks after irradiation. Supplementation with alpha-tocopherol and beta-carotene did not alter the morphology of the glands.


Assuntos
Carotenoides/administração & dosagem , Glândulas Salivares/efeitos da radiação , Vitamina E/administração & dosagem , Animais , Carotenoides/sangue , Feminino , Ratos , Ratos Sprague-Dawley , Saliva/química , Saliva/enzimologia , Glândulas Salivares/citologia , Glândulas Salivares/efeitos dos fármacos , Glândulas Salivares/fisiopatologia , Vitamina E/sangue
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