| 71. |
|
|
| 72. |
- Jernström, Helena, et al.
(författare)
-
Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2
- 1999
-
Ingår i: The Lancet. - 1474-547X. ; 354:9193, s. 1846-1850
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Early age at first full-term pregnancy and increasing parity are associated with a reduced risk of breast cancer. However, whether pregnancy decreases the risk of early-onset hereditary breast cancer is unknown. There is concern that pregnancy may increase breast-cancer risk in carriers of BRCA1 and BRCA2 germline mutations. We aimed to establish whether pregnancy is a risk factor for hereditary breast cancer. METHODS: We did a matched case-control study of breast cancer in women who carry deleterious BRCA1 or BRCA2 mutations. Cases were carriers who developed breast cancer by age 40 years, and controls were carriers of the same age without breast cancer, or who were diagnosed with breast cancer after age 40 years. Women who had undergone preventive mastectomy, hysterectomy, or oophorectomy, or who were diagnosed with ovarian cancer before the age at which breast cancer was diagnosed in the matched case were excluded. Information about pregnancies and pregnancy outcome was derived from a questionnaire completed by women in the course of genetic counselling. FINDINGS: A higher proportion of cases than controls had had a full term pregnancy (173/236 vs 146/236; odds ratio 1.71 [95% CI 1.13-2.62], p=0.01). The mean number of births was also greater for cases than for controls (1.62 vs 1.38, p=0.04). The risk increased with the number of births and did not diminish with time since last pregnancy. There were no significant differences in age at first birth or age at last birth between cases and controls. INTERPRETATION: Carriers of the BRCA1 and BRCA2 mutations who have children are significantly more likely to develop breast cancer by age 40 than carriers who are nulliparous. Each pregnancy is associated with an increased cancer risk. An early first pregnancy does not confer protection for carriers of BRCA1 or BRCA2 mutations.
|
|
| 73. |
|
|
| 74. |
- Bledsoe, Adam C., et al.
(författare)
-
Mortality and cancer in eosinophilic gastrointestinal disorders distal to the esophagus : nationwide cohort study 1990-2017
- 2022
-
Ingår i: Journal of gastroenterology. - : Springer. - 0944-1174 .- 1435-5922. ; 57, s. 735-747
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Eosinophilic gastrointestinal disorders (EGIDs) include inflammatory conditions with enteric infiltration of eosinophils and resulting symptoms. This study aims to examine a population-based sample of patients for prevalence, mortality, and cancer risk in EGIDs distal to the esophagus.Methods: Nationwide, population-based cohort study. EGID was identified through relevant biopsy codes from Sweden's all 28 pathology departments through the ESPRESSO cohort. Individuals with EGID were then matched to general population reference individuals with similar age and sex. Study participants were linked to Swedish healthcare registers. Through Cox regression, we calculated adjusted hazard ratios (aHRs) adjusting for sex, age, county, calendar period, and education.Results: In total, 2429 patients (56% female) were found to have EGID distal to the esophagus, representing a prevalence of about 1/4800 in the Swedish population. Mean age was 44 years with 11% children at the time of diagnosis. Mortality was increased 17% in patients with EGIDs compared to reference individuals (aHR = 1.17; 95%CI = 1.04-1.33). Excess mortality was seen in gastric and small bowel eosinophilic disease, but not colonic disease (aHR = 1.81; 95%CI = 1.32-2.48, aHR = 1.50; 95%CI = 1.18-1.89, and aHR = 0.99; 95%CI = 0.85-1.16, respectively). Cause specific mortality was driven by cancer-related death (aHR = 1.33; 95%CI = 1.05-1.69). However, this study failed to show an increase in incident cancers (aHR = 1.14; 95%CI = 0.96-1.35). Comparison of EGID individuals with their siblings yielded similar aHRs.Conclusions: This study found an increased risk of death in patients with EGIDs distal to the esophagus, with cancer death driving the increase. Proximal gut disease seems to confer the greatest risk. There was no increase in incident cancers.
|
|
| 75. |
|
|
| 76. |
- Broom, Wendy J, et al.
(författare)
-
DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS
- 2009
-
Ingår i: Neuroscience Letters. - : Elsevier. - 0304-3940 .- 1872-7972. ; 463:1, s. 64-69
-
Tidskriftsartikel (refereegranskat)abstract
- Familial amyotrophic lateral sclerosis (ALS) accounts for 10% of all ALS cases; 12-23% are associated with mutations in the Cu/Zn superoxide dismutase gene (SOD1). All ALS-linked SOD1 mutations present with a dominant pattern of inheritance apart from the aspartate to alanine mutation in exon 4 (D90A). This mutation has been observed in dominant, recessive and apparently sporadically cases. SOD1(D90A/D90A) ALS cases have a very slow disease progression (>10 years), raising the hypothesis that modifier genes linked to SOD1 ameliorate the phenotype of recessively inherited SOD1(D90A/D90A) mutations. Previous sequence analysis of a conserved haplotype region around the SOD1 gene did not reveal any functional polymorphisms within known coding or putative regulatory regions. In the current study we expanded the previous analyses by sequencing the entire SOD1 conserved haplotypic region. Although many polymorphisms were identified, none of these variants explain the slowly progressive phenotype observed in patients with recessive SOD1(D90A) mutations. This study disproves the hypothesis that there is a tightly linked genetic protective factor specifically located close to the SOD1 gene in SOD1(D90A) mediated ALS.
|
|
| 77. |
|
|
| 78. |
- Garber, Nicholas J, et al.
(författare)
-
Distribution and characteristics of crashes at different locations within work zones in Virginia
- 2001
-
Ingår i: Proceedings of the Conference Road Safety on Three Continents in Pretoria, South Africa, 20-22 September 2000. - Linköping : Statens väg- och transportforskningsinstitut. ; , s. 473-498
-
Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Work zones tend to cause hazardous conditions for vehicle drivers and construction workers since these work zones generate conflicts between construction activities and the traffic, and therefore aggravate the existing traffic conditions. This study investigated the characteristics of work zone crashes in Virginia that occurred between 1996 and 1999. The information on each crash was obtained from the police crash records. Each crash was located in one of five areas of the work zone: 1) advance warning area; 2) transition area; 3) longitudinal buffer area; 4) activity area; and 5) termination area. An analysis of the percentage distributions was then carried out, with respect to the locations of the crashes, the severity, collision types and different types of highways. The proportionality test was used to determine significant differences at the 5% significance level. The results indicate that the Activity Area (Area 4) is the predominant location for work zone crashes regardless of the highway type, and that rear-end crashes are the predominant type of crashes. However, the results also indicated that the proportion of the sideswipe in same direction (SS) crashes in the Transition Area (area 2) is significantly higher than that in the Advance Warning Area (Area 1).
|
|
| 79. |
|
|
| 80. |
|
|
