| 1. |
- Davies, John R., et al.
(författare)
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An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study
- 2014
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Ingår i: Pigment Cell & Melanoma Research. - : Wiley. - 1755-148X .- 1755-1471. ; 27:2, s. 234-243
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Tidskriftsartikel (refereegranskat)abstract
- An association between low serum vitamin D levels and poorer melanoma survival has been reported. We have studied inheritance of a polymorphism of the GC gene, rs2282679, coding for the vitamin D-binding protein, which is associated with lower serum levels of vitamin D, in a meta-analysis of 3137 melanoma patients. The aim was to investigate evidence for a causal relationship between vitamin D and outcome (Mendelian randomization). The variant was not associated with reduced overall survival (OS) in the UK cohort, per-allele hazard ratio (HR) for death 1.23 (95% confidence interval (CI) 0.93, 1.64). In the smaller cohorts, HR in OS analysis was 1.07 (95% CI 0.88, 1.3) and for all cohorts combined, HR for OS was 1.09 (95% CI 0.93, 1.29). There was evidence of increased melanoma-specific deaths in the seven cohorts for which these data were available. The lack of unequivocal findings despite the large sample size illustrates the difficulties of implementing Mendelian randomization.
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| 2. |
- Huttenhain, Ruth, et al.
(författare)
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A targeted mass spectrometry strategy for developing proteomic biomarkers : a case study of epithelial ovarian cancer
- 2019
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Ingår i: Molecular and Cellular Proteomics. - 1535-9484. ; 18:9, s. 1836-1850
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Tidskriftsartikel (refereegranskat)abstract
- Protein biomarkers for epithelial ovarian cancer are critical for the early detection of the cancer to improve patient prognosis and for the clinical management of the disease to monitor treatment response and to detect recurrences. Unfortunately, the discovery of protein biomarkers is hampered by the limited availability of reliable and sensitive assays needed for the reproducible quantification of proteins in complex biological matrices such as blood plasma. In recent years, targeted mass spectrometry, exemplified by Selected Reaction Monitoring (SRM) has emerged as a method, capable of overcoming this limitation. Here, we present a comprehensive SRM-based strategy for developing plasma-based protein biomarkers for epithelial ovarian cancer and illustrate how the SRM platform, when combined with rigorous experimental design and statistical analysis, can result in detection of predictive analytes.Our biomarker development strategy first involved a discovery-driven proteomic effort to derive potential N-glycoprotein biomarker candidates for plasma-based detection of human ovarian cancer from a genetically engineered mouse model of endometrioid ovarian cancer, which accurately recapitulates the human disease. Next, 65 candidate markers selected from proteins of different abundance in the discovery dataset were reproducibly quantified with SRM assays across a large cohort of over 200 plasma samples from ovarian cancer patients and healthy controls. Finally, these measurements were used to derive a 5-protein signature for distinguishing individuals with epithelial ovarian cancer from healthy controls. The sensitivity of the candidate biomarker signature in combination with CA125 ELISA-based measurements currently used in clinic, exceeded that of CA125 ELISA-based measurements alone. The SRM-based strategy in this study is broadly applicable. It can be used in any study that requires accurate and reproducible quantification of selected proteins in a high-throughput and multiplexed fashion.
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| 3. |
- JOHANSSON, BERTIL, et al.
(författare)
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Breakprone chromosome bands in fibroblasts from patients with non‐Hodgkin's lymphoma do not coincide with bands involved in primary rearrangements in non‐Hodgkin's lymphomas
- 1988
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Ingår i: Hereditas. - : Springer Science and Business Media LLC. - 0018-0661. ; 109:1, s. 131-137
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Tidskriftsartikel (refereegranskat)abstract
- The distribution of breakpoints in structural chromosome aberrations (chromatid and chromosome gaps, breaks, and exchanges) was studied in skin fibroblasts from 35 untreated patients with non‐Hodgkin's lymphoma (NHL) and 39 controls. A total of 227 aberrations in the NHL group and 260 in the control group could be assigned to specific chromosome bands. The distribution of breakpoints was nonrandom in both groups (p<0.001), with excessive breakage in 17 bands among the NHL patients and in 21 among the controls. Two of the hot spots in the NHL group (6q21,14q24) and three in the control group (2q33,6q21, 6q25) coincided with the 60 chromosome bands that are targets for primary chromosome abnormalities in NHL. We conclude that the chromosome bands involved in primary structural abnormalities in lymphoma cells are not constitutionally breakprone in NHL patients.
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| 4. |
- Kristoffersson, Ulf, et al.
(författare)
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Deletion of 14q in non‐Hodgkin's lymphoma
- 1990
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Ingår i: European Journal of Haematology. - : Wiley. - 0902-4441 .- 1600-0609. ; 44:4, s. 261-264
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Tidskriftsartikel (refereegranskat)abstract
- Abstract: 6 patients with non‐Hodgkin's lymphoma [3 with small cell lymphocytic lymphoma of B‐cell type (SL), and 1 each with follicular centroblastic/centrocytic, centroblastic, and immunoblastic lymphoma] and with the acquired cytogenetic abnormalities del(14) (q22) or del(14) (q24) are described. An evaluation of these 6 cases and 41 other lymphatic neoplasms with 14q deletion known from the literature revealed that 37 had a breakpoint in bands q22 to q24. The deletions occur significantly more often in lymphomas of SL morphology and in the leukemic counterpart, chronic lymphocytic leukemia, than in other types of lymphatic malignancies (p< 0.001).
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| 7. |
- Olsson, Hakan, et al.
(författare)
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Hypophyseal tumor and gynecomastia preceding bilateral breast cancer development in a man
- 1984
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Ingår i: Cancer. - 0008-543X. ; 53:9, s. 1974-1977
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Tidskriftsartikel (refereegranskat)abstract
- The case is reported of a 48‐year‐old man who, 26 years after treatment for a hypophyseal tumor and 11 years after the onset of bilateral gynecomastia, developed cancer of the left breast. Ten years after the first breast cancer operation a new cancer developed in his right breast. Hormonal investigation at the time of the second breast cancer operation revealed a low S‐FSH and a relative estrogen excess compared to testosterone. Values of thyroid and adrenal hormones were essentially normal, while P‐prolactin was elevated. Stimulatory tests of the hypophyseal function were in accordance with a partial hypophyseal insufficiency affecting the hypophyseal‐gonadal axis. Also, a weak elevation of S‐HGH was noted by an insulin tolerance test. Immunohistochemical analysis of the pituitary tumor 36 years later showed that the tumor could be classified as a prolactinoma. Cytogenetic analysis revealed a normal male chromosome karyotype.
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| 10. |
- Shattuck Eidens, Donna, et al.
(författare)
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A Collaborative Survey of 80 Mutations in the BRCA1 Breast and Ovarian Cancer Susceptibility Gene : Implications for Presymptomatic Testing and Screening
- 1995
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Ingår i: JAMA: The Journal of the American Medical Association. - : American Medical Association (AMA). - 0098-7484. ; 273:7, s. 535-541
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES:To report the initial experience of an international group of investigators in identifying mutations in the BRCA1 breast and ovarian cancer susceptibility gene, to assess the spectrum of such mutations in samples from patients with different family histories of cancer, and to determine the frequency of recurrent mutations.DESIGN:Nine laboratories in North America and the United Kingdom tested for BRCA1 mutations in DNA samples obtained from a total of 372 unrelated patients with breast or ovarian cancer largely chosen from high-risk families. Three of these laboratories also analyzed a total of 714 additional samples from breast or ovarian cancer cases, including 557 unselected for family history, for two specific mutations that had been found to recur in familial samples.PARTICIPANTS:A total of 1086 women with either breast or ovarian cancer.MAIN OUTCOME MEASURE:The detection of sequence variation in patients' DNA samples that is not found in sets of control samples.RESULTS:BRCA1 mutations have now been identified in a total of 80 patient samples. Thirty-eight distinct mutations were found among 63 mutations identified through a complete screen of the BRCA1 gene. Three specific mutations appeared relatively common, occurring eight, seven, and five times, respectively. When specific tests for the two most common mutations were performed in larger sets of samples, they were found in 17 additional patients. Mutations predicted to result in a truncated protein accounted for 86% of the mutations detected by complete screening.CONCLUSIONS:The high frequency of protein-terminating mutations and the observation of many recurrent mutations found in a diverse set of samples could lead to a relatively simple diagnostic test for BRCA1 mutations. More data must be accumulated to address specifically the sensitivity and specificity of such a diagnostic testing procedure and to better estimate the age-specific risk for breast and ovarian cancer associated with such mutations.
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