| 1. |
- Bosetti, Cristina, et al.
(författare)
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High constant incidence rates of second primary cancers of the head and neck: a pooled analysis of 13 cancer registries
- 2011
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Ingår i: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 129:1, s. 173-179
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Tidskriftsartikel (refereegranskat)abstract
- Scanty data are available on the incidence (i.e., the absolute risk) of second cancers of the head and neck (HN) and its pattern with age. We investigated this issue using data from a multicentric study of 13 population-based cancer registries from Europe, Canada, Australia and Singapore for the years 1943-2000. A total of 99,257 patients had a first primary HN cancer (15,985 tongue, 22,378 mouth, 20,758 pharyngeal, and 40,190 laryngeal cancer), contributing to 489,855 person-years of follow-up. A total of 1,294 of the patients (1.3%) were diagnosed with second HN cancers (342 tongue, 345 mouth, 418 pharynx and 189 larynx). Male incidence rates of first HN cancer steeply increased from 0.68/100,000 at age 30-34 to 46.2/100,000 at age 70-74, and leveled off at older age; female incidence increased from 0.50/100,000 at age 30-34 to 16.5/100,000 at age 80-84. However, age-specific incidence of second HN cancers after a first HN cancer in men was around 200-300/100,000 between age 40-44 and age 70-74 and tended to decline at subsequent ages (150/100,000 at age 80-84); in women, incidence of second HN cancers was around 200-300/100,000 between age 45-49 and 80-84. The patterns of age-specific incidence were consistent for different subsites of second HN cancer and sexes; moreover, they were similar for age-specific incidence of first primary HN cancer in patients who subsequently developed a second HN cancer. The incidence of second HN cancers does not increase with age, but remains constant, or if anything, decreases with advancing age.
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| 2. |
- Koivisto-Korander, Riitta, et al.
(författare)
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Second primary malignancies among women with uterine sarcoma
- 2012
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Ingår i: Gynecologic Oncology. - : Elsevier BV. - 1095-6859 .- 0090-8258. ; 126:1, s. 30-35
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Tidskriftsartikel (refereegranskat)abstract
- Objective. Uterine sarcomas (US) are rare malignancies with unclear aetiology. Studies on uterine sarcomas in the setting of second primary malignant tumours can provide clues to aetiology and identify side effects of different treatments. Methods. A cohort of 8606 cases of US was extracted from the data from 13 cancer registries and followed for second primary cancers within the period 1943-2000. Standardized incidence ratios (SIRs) were calculated, and Poisson regression analyses were performed. Results. There were 499 cancer cases observed after a first diagnosis of US (SIR 1.26, 95%CI 1.16-1.38). SIRs were elevated for cancers of the mouth and pharynx (2.16, 95%CI 1.15-3.69), colorectum (1.60, 95%CI 1.28-1.98), lung (1.73, 95%CI 1.27-2.29), breast (1.25, 95%CI 1.05-1.49), urinary bladder (1.74, 95%CI 1.02-2.79), kidney (2.00, 95%CI 1.24-3.06), thyroid gland (2.74, 95%CI 1.42-4.79), and soft tissue sarcoma (5.23, 95%CI 2.51-9.62). The risk of breast cancer increased along with increasing age of US diagnosis (p trend 0.040). The risk of kidney cancer increased along with decreasing age of US diagnosis (p trend 0.004) and short time since the US diagnosis (p trend 0.018). Conclusions. Our study demonstrated increased risk of certain cancers following a diagnosis of US. The elevated risk for breast cancer may indicate shared hormonal aetiology, while the increased risk of colorectal and bladder cancers after US may be caused by radiation therapy of US. The clustering of smoking-related cancers after US is worth exploring in the future. (c) 2012 Elsevier Inc. All rights reserved.
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| 3. |
- Maule, Milena, et al.
(författare)
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Second malignancies after childhood noncentral nervous system solid cancer: results from 13 cancer registries
- 2011
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Ingår i: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 129:8, s. 1940-1952
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Tidskriftsartikel (refereegranskat)abstract
- Children diagnosed with noncentral nervous system solid cancers (NCNSSC) experience several adverse late effects, including second malignant neoplasm. The aim of our study was to assess the risk of specific second malignancies after a childhood NCNSSC. Diagnosis and follow-up data on 10,988 cases of NCNSSC in children (0-14 years) were obtained from 13 registries. Standardized incidence ratios (SIRs) with 95% confidence intervals (CI) and cumulative incidence of second malignancies were computed. We observed 175 second malignant neoplasms, yielding a SIR of 4.6, 95% CI: 3.9-5.3. When considering second cancers with at least 10 occurrences, highest relative risks were found for second malignant bone tumors (SIR = 26.4, 16.6-40.0), soft tissue sarcomas (SIR = 14.1, 6.7-25.8) and myeloid leukemia (SIR = 12.7, 6.3-22.8). Significant increased risks for all malignancies combined were observed after sympathetic nervous system tumors (SIR = 11.4, 5.2-21.6), retinoblastomas (SIR = 7.3, 5.4-9.8), renal tumors (SIR = 5.7, 3.8-8.0), malignant bone tumors (SIR = 5.6, 3.7-8.2), soft tissue sarcomas (SIR = 4.7, 3.2-6.8), germ-cell, trophoblastic and other gonadal neoplasms (SIR = 2.5, 1.1-4.9), carcinomas and other malignant epithelial neoplasms (SIR = 2.2, 1.4-3.3). The highest risk of a second malignancy of any type occurred 5 to 9 years after NCNSSC (SIR = 9.9, 6.8-13.9). The cumulative incidence of second malignancies 10 years after the first neoplasm was eight times higher among NCNSSC survivors than in the general population, with the absolute difference between observed and expected cumulative incidence still increasing after 50 years of follow-up. Children who survived a NCNSSC experience a large increased risk of developing a new malignancy, even many years after their initial diagnosis.
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| 4. |
- Stacey, Simon N, et al.
(författare)
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A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:11, s. 1098-103
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Tidskriftsartikel (refereegranskat)abstract
- To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).
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| 5. |
- A Hulten, Maj, et al.
(författare)
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On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model
- 2010
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Ingår i: Reproduction. - 1470-1626 .- 1476-3990. ; 139:1, s. 1-9
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Forskningsöversikt (refereegranskat)abstract
- We have recently documented that trisomy 21 mosaicism is common in human foetal ovaries. On the basis of this observation we propose that the maternal age effect in Down syndrome (DS) is caused by the differential behaviour of trisomy 21 in relation to disomy 21 oocytes during development from foetal life until ovulation in adulthood. in particular, we suggest that trisomy 21 oocytes, lagging behind those that are disomic, may escape the timed pruning of the seven million in foetal life to the 300-400 finally selected for ovulation. The net effect of this preferential elimination will be an accumulation of trisomy 21 oocytes in the ovarian reserve of older women. We here highlight the implications of this Oocyte Mosaicism Selection (OMS) model with respect to the prevalent view that the maternal age effect is complex, dependent on many different biological and environmental factors. We examine conclusions drawn from recent large-scale studies in families, tracing DNA markers along the length of chromosome 21q between parents and DS children, in comparison to the OMS model. We conclude that these family linkage data are equally compatible with the maternal age effect originating from the accumulation of trisomy 21 oocytes with advancing maternal age. One relatively straightforward way to get to grips with what is actually going on in this regard would be to compare incidence of trisomy 21 oocytes (and their pairing configurations) in foetal ovaries with that in oocytes at the meiosis I stage from adult women.
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| 6. |
- Abrahamson, Josefin, et al.
(författare)
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Adolescent elite skiers with and without cam morphology did change their hip joint range of motion with 2 years follow-up
- 2019
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Ingår i: Knee Surgery, Sports Traumatology, Arthroscopy. - : Springer Science and Business Media LLC. - 0942-2056 .- 1433-7347. ; 27:10, s. 3149-3157
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To investigate how range of motion of the hips and the lumbar spine are affected by continued elite, alpine skiing in young subjects, with and without a magnetic resonance imaging verified cam morphology, in a 2-year follow-up study. The hypothesis is that skiers with cam morphology will show a decrease in hip joint range of motion as compared with skiers without cam, after a 2-year follow-up. Method: Thirty adolescent elite alpine skiers were examined at the baseline (mean age 17.3 ± 0.7 years) and after 2 years. All skiers were examined for the presence of cam morphology (α-angle > 55°) using magnetic resonance imaging at the baseline. Clinical examinations of range of motion in standing lumbar flexion and extension, supine hip flexion, internal rotation, FABER test and sitting internal rotation and external rotation were performed both at the baseline and after 2 years. Results: Skiers with and without cam morphology showed a significant decrease from baseline to follow-up in both hips for supine internal rotation (right: mean − 13.3° and − 10.9° [P < 0.001]; left: mean − 7.6° [P = 0.004] and − 7.9° [P = 0.02]), sitting internal rotation (right: mean − 9.6° and − 6.3° [P < 0.001]; left: mean − 7.6° [P = 0.02] and − 3.3° [P = 0.008]) and sitting external rotation (right: mean − 16.9° and − 11.4° and left: mean − 17.9° and − 14.5° [P < 0.001]) and were shown to have an increased left hip flexion (mean + 8.4° and + 4.6° [P = 0.004]). Skiers with cam were also shown to have an increased right hip flexion (mean + 6.4° [P = 0.037]). Differences were found between cam and no-cam skiers from baseline to follow-up in the sitting internal rotation in both hips (right: mean 3.25°, left: mean 4.27° [P < 0.001]), the right hip flexion (mean 6.02° [P = 0.045]) and lumbar flexion (mean − 1.21°, [P = 0.009]). Conclusion: Young, elite alpine skiers with cam morphology decreased their internal rotation in sitting position as compared with skiers without the cam morphology after 2 years of continued elite skiing. Level of evidence: II.
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| 7. |
- Abrahamson, Josefin, et al.
(författare)
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Hip pain and its correlation with cam morphology in young skiers-a minimum of 5 years follow-up
- 2020
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Ingår i: Journal of Orthopaedic Surgery and Research. - : Springer Science and Business Media LLC. - 1749-799X. ; 15:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundThere is conflicting evidence regarding the association between cam morphological changes and hip pain, and it remains unclear who with cam morphology will develop hip pain and who will not. This study aimed to investigate the correlation between cam morphology, hip pain, and activity level at a 5-year follow-up in young Alpine and Mogul skiers.MethodAll students (n = 76) at angstrom re Ski National Sports High School were invited and accepted participation in this prospective study at baseline. Magnetic resonance imaging (MRI) of both hips was conducted to evaluate the presence of cam morphology (alpha -angle >= 55 degrees) and its size alongside the reporting of hip pain, type, and frequency of training by the Back and hip questionnaire, at baseline. After 5 years, the skiers were invited to complete a shortened version of the same questionnaire.ResultsA total of 60 skiers (80%) completed the follow-up questionnaire, of which 53 had concomitant MRI data. Cam morphology was present in 25 skiers (47.2%, 39 hips). Hip pain at baseline and at follow-up was reported in 17 (28.3%) and 22 (36.7%) skiers, respectively. No correlations were found between the activity level, the frequency, and the size of cam morphology and hip pain, except for the right hip alpha -angle at 1 o'clock and hip pain in skiers with cam morphology at baseline (r(s) = 0.49; P = 0.03) and at follow-up (r(s) = 0.47; P = 0.04). A total of 73.3% skiers had retired, of which 48% reported this was due to injuries.ConclusionHip pain was not shown to be correlated, or had a low correlation, with activity level and the presence and size of cam morphology in young skiers on a 5-year follow-up. Based on these results, cam morphology or activity level did not affect hip pain to develop during 5 years of follow-up in young skiers. Furthermore, this study highlights that almost 75% of young elite skiers had retired from their elite career with almost 50% reporting that this was due to injuries sustained from skiing.
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| 8. |
- Abrahamson, Josefin, et al.
(författare)
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Horseback riding is common among female athletes who had arthroscopic treatment for femoroacetabular impingement syndrome
- 2021
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Ingår i: Translational Sports Medicine. - : Hindawi Limited. - 2573-8488. ; 4:4, s. 500-507
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Tidskriftsartikel (refereegranskat)abstract
- The purpose was to investigate pre-operative symptoms and types of sport in competitive athletes undergoing arthroscopic treatment for femoroacetabular impingement syndrome (FAIS), and to compare between genders. Competitive athletes planned for arthroscopic treatment for FAIS were included prospectively in a hip arthroscopy registry. A total of 1548 athletes were identified and 919 were included. Sporting activity and patient-reported outcome measures (PROMs), including HSAS, iHOT-12, and HAGOS, were recorded, pre-operatively. The study comprised 738 male and 181 female athletes (median age 25; interquartile range 20-32 years) who had undergone arthroscopic treatment for FAIS. The most common sports type performed by males were football (48%) and ice hockey (19%) and in females, football (25%) and horseback riding (22%). Females reported a significantly longer duration of symptoms (median 36 vs 24 months) and lower pre-operative scores for the iHOT-12 and all the HAGOS subscales, except for physical activity. In conclusion, horseback riding and football are almost equally common in female athletes, while football is by far the most common in male athletes, who underwent arthroscopic treatment for FAIS. Females had a longer duration of symptoms and a higher degree of self-reported symptoms and dysfunction prior to the hip arthroscopy.
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| 9. |
- Abrahamson, Josefin, et al.
(författare)
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Low rate of high-level athletes maintained a return to pre-injury sports two years after arthroscopic treatment for femoroacetabular impingement syndrome
- 2020
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Ingår i: Journal of Experimental Orthopaedics. - : Springer Science and Business Media LLC. - 2197-1153. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The aim was to investigate the rate of athletes still active at their pre-injury sports level two years after arthroscopic treatment for femoroacetabular impingement syndrome (FAIS), and examine this between different sports and gender, and its correlation to patient-reported outcome measures (PROMs). Method: High-level athletes planned for arthroscopic treatment for FAIS were included prospectively in a Swedish hip arthroscopy registry between 2011 and 2017, and 717 met the inclusion criteria. Self-reported sporting activity was recorded preoperatively. The subjects answered PROMs, including the HSAS, iHOT-12 and HAGOS pre- and postoperatively. Results: A total of 551 athletes (median age 26, interquartile range 20–34 years; 23% women) had completed follow-up PROMs, at mean 23.4 ± 7.2 months postoperatively. In total, 135 (24.5%) were active at their pre-injury level of sports at follow-up (RTSpre). Athletes ≤30 years at time of surgery (n = 366; median age 22 years) had higher rate of RTSpre (31.4%) compared with athletes > 30 years (n = 185; median age 40 years) (10.8%; p < 0.001). All athletes had improvements in iHOT-12 and HAGOS, two years postoperatively (p < 0.001), while RTSpre athletes reported significantly better PROMs, pre- and postoperatively, and had greater improvements two years postoperatively, compared with athletes not active at pre-injury level. Conclusion: Only 25% of all high-level athletes and 31% of athletes ≤30 years were still active at their pre-injury sports level two years after arthroscopic treatment for FAIS. Athletes still active had significantly and clinically greater improvement regarding hip symptoms, function and quality of life, as compared with athletes not active at pre-injury level, two years postoperatively. © 2020, The Author(s).
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| 10. |
- Adolfsson, Emma, 1977-, et al.
(författare)
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CNV-Z; a new tool for detecting copy number variation in next generation sequencing data
- 2023
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Ingår i: SoftwareX. - : Elsevier. - 2352-7110. ; 24
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Tidskriftsartikel (refereegranskat)abstract
- We developed an efficient approach to diagnostic copy number analysis of targeted gene panel or whole exome sequence (WES) data. Here we present CNV-Z as a new tool for detection of copy number variants (CNVs). Deletions and duplications of chromosomal regions are widely implicated in both genomic evolution and genetic disorders. However, calling CNVs from targeted or exome sequence data is challenging. In most cases, the copy number of a chromosomal region is estimated as the depth of reads mapping to a certain bin or sliding window divided by the expected number of reads derived from a set of reference samples. This approach will inevitably miss smaller CNVs on an irregular basis, and quite frequently results in a disturbing number of false positive CNVs. We developed an alternative approach to detect CNVs based on deviation from expected read depth per position, instead of region. Cautiously used, the cohort of samples in the same run will do as a reference. With appropriate filtering, given high quality DNA and a set of suitable reference samples, CNV-Z detects CNVs ranging in length from one nucleotide to an entire chromosome, with few false positives. Performance is proved by benchmarking using both in-house targeted gene panel NGS data and a publicly available NGS dataset, both sets with multiplex ligation-dependent amplification probe (MLPA) validated CNVs. The outcome shows that CNV-Z detects single- and multi-exonic CNVs with high specificity and sensitivity using different kind of NGS data. On gene level, CNV-Z shows both excellent sensitivity and specificity. Compared to competing CNV callers, CNV-Z shows higher specificity and positive predictive value for detecting exonic CNVs.
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