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CAG repeat length in the androgen receptor gene is related to age at diagnosis of prostate cancer and response to endocrine therapy, but not to prostate cancer risk.

https://arctichealth.org/en/permalink/ahliterature20727
Source
Br J Cancer. 1999 Oct;81(4):672-6
Publication Type
Article
Date
Oct-1999
Author
O. Bratt
A. Borg
U. Kristoffersson
R. Lundgren
Q X Zhang
H. Olsson
Author Affiliation
Department of Urology, University of Lund, Sweden.
Source
Br J Cancer. 1999 Oct;81(4):672-6
Date
Oct-1999
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Aged
Aged, 80 and over
Gonadorelin - therapeutic use
Humans
Male
Middle Aged
Prostatic Neoplasms - drug therapy - etiology - genetics
Receptors, Androgen - genetics
Research Support, Non-U.S. Gov't
Risk
Trinucleotide Repeats
Abstract
The length of the polymorphic CAG repeat in the N-terminal of the androgen receptor (AR) gene is inversely correlated with the transactivation function of the AR. Some studies have indicated that short CAG repeats are related to higher risk of prostate cancer. We performed a case-control study to investigate relations between CAG repeat length and prostate cancer risk, tumour grade, tumour stage, age at diagnosis and response to endocrine therapy. The study included 190 AR alleles from prostate cancer patients and 186 AR alleles from female control subjects. All were whites from southern Sweden. The frequency distribution of CAG repeat length was strikingly similar for cases and controls, and no significant correlation between CAG repeat length and prostate cancer risk was detected. However, for men with non-hereditary prostate cancer (n = 160), shorter CAG repeats correlated with younger age at diagnosis (P = 0.03). There were also trends toward associations between short CAG repeats and high grade (P = 0.07) and high stage (P = 0.07) disease. Furthermore, we found that patients with long CAG repeats responded better to endocrine therapy, even after adjusting for pretreatment level of prostate-specific antigen and tumour grade and stage (P = 0.05). We conclude that short CAG repeats in the AR gene correlate with young age at diagnosis of prostate cancer, but not with higher risk of the disease. Selection of patients with early onset prostate cancer in case-control studies could therefore lead to an over-estimation of the risk of prostate cancer for men with short CAG repeats. An association between long CAG repeats and good response to endocrine therapy was also found, but the mechanism and clinical relevance are unclear.
PubMed ID
10574254 View in PubMed
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Clinical course of early onset prostate cancer with special reference to family history as a prognostic factor.

https://arctichealth.org/en/permalink/ahliterature21550
Source
Eur Urol. 1998;34(1):19-24
Publication Type
Article
Date
1998
Author
O. Bratt
U. Kristoffersson
H. Olsson
R. Lundgren
Author Affiliation
Department of Urology, Lund University Hospital, Sweden. ola.bratt@urokir.lu.se
Source
Eur Urol. 1998;34(1):19-24
Date
1998
Language
English
Publication Type
Article
Keywords
Age of Onset
Aged
Disease-Free Survival
Follow-Up Studies
Humans
Male
Middle Aged
Prognosis
Prostatic Neoplasms - genetics - mortality - pathology
Research Support, Non-U.S. Gov't
Retrospective Studies
Survival Rate
Abstract
OBJECTIVE: The aim of this study was to describe the clinical characteristics of early onset prostate cancer, with special reference to family history as a possible prognostic factor. MATERIAL AND METHODS: We identified all cases of prostate cancer diagnosed before the age of 51 in the Southern health care region in Sweden between 1958 and 1994. Clinical data were collected retrospectively from medical records. Data about family history of prostate cancer were also collected from the parish authorities and the Regional Cancer Registry. RESULTS: In all, 89 cases were included. The median time of follow-up was 17 years. During the time of follow-up, 65 patients died, 57 of whom died from prostate cancer. At diagnosis, 34% of the patients had localized, 22% had locally advanced, and 40% had metastatic tumours. The tumours were well differentiated in 30% of the cases, moderately differentiated in 38%, and poorly differentiated in 28%. Information on tumour grade and stage was missing in 3 cases. The cause-specific survival was 48% at 5 years and 29% at 10 years. The 18 patients with a family history of prostate cancer had a somewhat better prognosis than the patients with a negative family history, though the difference did not reach statistical significance (p = 0.08). CONCLUSIONS: Early onset prostate cancer is a serious disease with high mortality. The proportions of patients with poorly differentiated and metastatic tumours appeared to be larger than for cases diagnosed later in life, but this could be explained by selection bias since younger men may have a lower probability of having asymptomatic localized tumours diagnosed. Family history of prostate cancer was not significantly associated with prognosis.
PubMed ID
9676409 View in PubMed
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[Diagnosis of cystic fibrosis by means of genetic technology--guidelines from an expert meeting]

https://arctichealth.org/en/permalink/ahliterature59814
Source
Lakartidningen. 1990 Oct 17;87(42):3429-30
Publication Type
Article
Date
Oct-17-1990

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

https://arctichealth.org/en/permalink/ahliterature196680
Source
J Med Genet. 2000 Nov;37(11):858-65
Publication Type
Article
Date
Nov-2000
Author
M. Bugge
G. Bruun-Petersen
K. Brøndum-Nielsen
U. Friedrich
J. Hansen
G. Jensen
P K Jensen
U. Kristoffersson
C. Lundsteen
E. Niebuhr
K R Rasmussen
K. Rasmussen
N. Tommerup
Author Affiliation
Department of Medical Genetics, IMBG, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen N, Denmark.
Source
J Med Genet. 2000 Nov;37(11):858-65
Date
Nov-2000
Language
English
Publication Type
Article
Keywords
Chromosome Aberrations - epidemiology - genetics
Chromosome Disorders
Chromosome Inversion
Denmark - epidemiology
Female
Genotype
Humans
Male
Mass Screening
Phenotype
Sweden - epidemiology
Translocation, Genetic
Abstract
Disease associated balanced chromosomal rearrangements (DBCRs), which truncate, delete, or otherwise inactivate specific genes, have been instrumental for positional cloning of many disease genes. A network of cytogenetic laboratories, Mendelian Cytogenetics Network (MCN), has been established to facilitate the identification and mapping of DBCRs. To get an estimate of the potential of this approach, we surveyed all cytogenetic archives in Denmark and southern Sweden, with a population of approximately 6.6 million. The nine laboratories have performed 71 739 postnatal cytogenetic tests. Excluding Robertsonian translocations and chromosome 9 inversions, we identified 216 DBCRs ( approximately 0.3%), including a minimum estimate of 114 de novo reciprocal translocations (0.16%) and eight de novo inversions (0.01%). Altogether, this is six times more frequent than in the general population, suggesting a causal relationship with the traits involved in most of these cases. Of the identified cases, only 25 (12%) have been published, including 12 cases with known syndromes and 13 cases with unspecified mental retardation/congenital malformations. The remaining DBCRs were associated with a plethora of traits including mental retardation, dysmorphic features, major congenital malformations, autism, and male and female infertility. Several of the unpublished DBCRs defined candidate breakpoints for nail-patella, Prader-Willi, and Schmidt syndromes, ataxia, and ulna aplasia. The implication of the survey is apparent when compared with MCN; altogether, the 292 participating laboratories have performed >2.5 million postnatal analyses, with an estimated approximately 7500 DBCRs stored in their archives, of which more than half might be causative mutations. In addition, an estimated 450-500 novel cases should be detected each year. Our data illustrate that DBCRs and MCN are resources for large scale establishment of phenotype-genotype relationships in man.
Notes
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PubMed ID
11073540 View in PubMed
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Familial aggregation of stroke amongst young patients in Lund Stroke Register.

https://arctichealth.org/en/permalink/ahliterature276623
Source
Eur J Neurol. 2016 Feb;23(2):401-7
Publication Type
Article
Date
Feb-2016
Author
A. Ilinca
U. Kristoffersson
M. Soller
A G Lindgren
Source
Eur J Neurol. 2016 Feb;23(2):401-7
Date
Feb-2016
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Cardiovascular Diseases - epidemiology
Female
Humans
Ischemic Attack, Transient - epidemiology
Male
Middle Aged
Pedigree
Registries
Risk factors
Stroke - epidemiology
Sweden - epidemiology
Abstract
The known monogenic forms of stroke are rare. The aim of this study was to analyze pedigrees of young stroke patients regarding possible monogenic cerebrovascular disease and to evaluate the possibility of genetic stroke in these families. This may contribute to a better understanding of disease mechanism in stroke.
Lund Stroke Register includes consecutive patients with first-ever stroke from a defined geographical area in southern Sweden. Early-onset (=55 years) stroke patients were systematically screened with regard to family history (FHx), and families with stroke aggregation were compiled. Participants provided information in a questionnaire on occurrence of stroke or transient ischaemic attack (TIA) in their families. Information on cardiovascular risk factors (VRFs) and clinical stroke subtype was collected. FHx for stroke was considered positive when the patient reported either =1 first-degree relative with stroke/TIA, or no first-degree relative but =3 second- or third-degree relatives with stroke/TIA in a distribution compatible with monogenic inheritance.
Of 4103 stroke patients registered, 426 (10%) had first-ever stroke at =55 years and 338 (79%) of these answered the questionnaire. Of them, 159 (47%) reported a positive FHx. Twenty-eight (18%) of the probands with positive FHx had no known VRFs. Thirty-two families with =4 members with stroke were identified. In all these larger families the affected individuals with stroke were present in more than one generation.
Aggregation of stroke in families of early-onset stroke patients is not uncommon. Genetic factors with impact on stroke risk, including monogenic causes, need to be evaluated in future stroke studies.
PubMed ID
26499090 View in PubMed
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Familial and hereditary prostate cancer in southern Sweden. A population-based case-control study.

https://arctichealth.org/en/permalink/ahliterature20883
Source
Eur J Cancer. 1999 Feb;35(2):272-7
Publication Type
Article
Date
Feb-1999
Author
O. Bratt
U. Kristoffersson
R. Lundgren
H. Olsson
Author Affiliation
Department of Urology, Lund University Hospital, Sweden. ola.bratt@urokir.lu.se
Source
Eur J Cancer. 1999 Feb;35(2):272-7
Date
Feb-1999
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Case-Control Studies
Family Health
Genetic Predisposition to Disease - epidemiology - genetics
Humans
Incidence
Male
Middle Aged
Pedigree
Prostatic Neoplasms - epidemiology - genetics
Research Support, Non-U.S. Gov't
Self Disclosure
Sweden - epidemiology
Abstract
The objectives of this study were to investigate the effect of family history on prostate cancer risk, to estimate the incidence of hereditary prostate cancer in southern Sweden and to assess the reliability of self-reported family history of prostate cancer. The study included consecutive prostate cancer patients and age-matched control subjects from a geographically defined population. The controls consisted of 1 male patient with malignant melanoma or non-Hodgkin's lymphoma and 1 male from the community per prostate cancer case. Family history was assessed with questionnaires, and diagnoses of fathers and brothers of cases were validated by the Southern Swedish Regional Tumour Registry. Among fathers and brothers whose names and birth dates were available, 56 (92%) of the 61 reported prostate cancer diagnoses were verified. Fifteen per cent of 356 cases and 5.0% of 712 controls reported at least 1 case of prostate cancer among their brothers or fathers, giving a relative risk of 3.2 (95% confidence interval 2.1-5.1). The relative risk increased with decreasing age at diagnosis of the patient. Based on the pedigree, 3.1% of the 356 patients were classified as having hereditary prostate cancer. This proportion was significantly higher among patients diagnosed before the age of 60 years (7.1%) than among older patients (2.2%). We conclude that there is a substantially increased risk of prostate cancer for sons and brothers of prostate cancer patients. The risk increases with decreasing age at diagnosis of the patient as an effect of a higher prevalence of hereditary prostate among early onset cases. Furthermore, we found self-reported family history of prostate cancer to be a valid estimate of the true incidence of prostate cancer in fathers and brothers of men with prostate cancer.
PubMed ID
10448270 View in PubMed
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Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer.

https://arctichealth.org/en/permalink/ahliterature19615
Source
J Natl Cancer Inst. 2001 Aug 15;93(16):1215-23
Publication Type
Article
Date
Aug-15-2001
Author
N. Loman
O. Johannsson
U. Kristoffersson
H. Olsson
A. Borg
Author Affiliation
Department of Oncology, Lund University Hospital, Sweden. Niklas.Loman@onk.lu.se
Source
J Natl Cancer Inst. 2001 Aug 15;93(16):1215-23
Date
Aug-15-2001
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Breast Neoplasms - epidemiology - genetics
Female
Genes, BRCA1 - genetics
Genes, Tumor Suppressor - genetics
Genetic Screening
Germ-Line Mutation
Heterozygote
Humans
Ovarian Neoplasms - epidemiology - genetics
Population Surveillance
Prevalence
Research Support, Non-U.S. Gov't
Sweden - epidemiology
Abstract
BACKGROUND: BRCA1 and BRCA2 are the two major susceptibility genes involved in hereditary breast cancer. This study was undertaken to provide reliable population-based estimates of genetic influence and to characterize the nature and prevalence of BRCA1 and BRCA2 germline mutations in early-onset breast cancer. METHODS: In a series comprising all women diagnosed with breast cancer under the age of 41 years in southern Sweden during 1990 through 1995 (n = 262), family history of cancer was evaluated in 95% (n = 250) of the case subjects and germline mutations in BRCA1 and BRCA2 were analyzed in 89% (n = 234). All statistical tests were two-sided. RESULTS: A total of 97 case subjects had at least one first- or second-degree relative with breast or ovarian cancer; 34 (14%; 95% confidence interval [CI] = 9.6% to 18%) cases had at least two first- or second-degree relatives, 22 (8.8%; 95%CI = 5.3% to 12%) had one first-degree relative, and 41 (16%; 95% CI = 12% to 21%) had one second-degree relative with either cancer. If two females affected with breast or ovarian cancer who were related through an unaffected male were also defined as first-degree relatives, then a higher number of case subjects, 120 (48%; 95% CI = 42% to 54%), had at least one first-degree or second-degree relative with breast or ovarian cancer. Sixteen (6.8%; 95% CI = 4.0% to 11%) BRCA1 mutation carriers and five (2.1%; 95% CI = 0.70% to 4.9%) BRCA2 mutation carriers were identified. Among case subjects with one first- or more than one first- or second-degree relative with breast or ovarian cancer, BRCA mutations were more frequent (P
Notes
Comment In: J Natl Cancer Inst. 2001 Aug 15;93(16):1188-911504754
PubMed ID
11504767 View in PubMed
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hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden.

https://arctichealth.org/en/permalink/ahliterature20856
Source
Int J Cancer. 1999 Oct 8;83(2):197-202
Publication Type
Article
Date
Oct-8-1999
Author
M. Planck
A. Koul
E. Fernebro
A. Borg
U. Kristoffersson
H. Olsson
E. Wenngren
P. Mangell
M. Nilbert
Author Affiliation
Department of Oncology, University Hospital, Lund, Sweden. Maria.Planck@onk.lu.se
Source
Int J Cancer. 1999 Oct 8;83(2):197-202
Date
Oct-8-1999
Language
English
Publication Type
Article
Keywords
Adult
Base Pair Mismatch - genetics
Carrier Proteins
Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology - genetics
DNA Mutational Analysis - methods
DNA Repair - genetics
DNA-Binding Proteins - genetics
Female
Frameshift Mutation
Genetic Screening
Germ-Line Mutation
Humans
Male
Middle Aged
MutS Homolog 2 Protein
Neoplasm Proteins - genetics
Nuclear Proteins
Proto-Oncogene Proteins - genetics
Research Support, Non-U.S. Gov't
Sweden - epidemiology
Abstract
We have screened 17 Southern Sweden individuals/families with suspected hereditary non-polyposis colorectal cancer (HNPCC) for mutations in the DNA-mismatch repair genes hMLH1, hMSH2 and hMSH6 using denaturing gradient gel electrophoresis, protein truncation test and direct DNA sequencing. The families were selected on the basis of a family history of HNPCC-related tumors or the occurrence of metachronous colorectal cancer/endometrial cancer at young age in an individual with a weak family history of cancer. Furthermore, we required that tumor tissue from at least one individual in the family had to display microsatellite instability. We identified germ-line mutations in 9 individuals from 8 families. Five families had mutations in hMLH1, 4 of which were splice site mutations, 2 had frameshift mutations in hMSH2 and 1 patient with metachronous endometrial and rectal cancer but with a weak family history of cancer had a nonsense mutation in hMSH6. Our results present novel germ-line DNA-repair gene mutations, one of these in hMSH6, and demonstrate the diversified mutation spectrum in Sweden, where no founder mutation has so far been identified.
PubMed ID
10471527 View in PubMed
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Incidence of malignant tumours in relatives of BRCA1 and BRCA2 germline mutation carriers.

https://arctichealth.org/en/permalink/ahliterature20672
Source
Eur J Cancer. 1999 Aug;35(8):1248-57
Publication Type
Article
Date
Aug-1999
Author
O. Johannsson
N. Loman
T. Möller
U. Kristoffersson
A. Borg
H. Olsson
Author Affiliation
Department of Oncology, University Hospital Lund, Sweden. oskar.johannsson@onk.lu.se
Source
Eur J Cancer. 1999 Aug;35(8):1248-57
Date
Aug-1999
Language
English
Publication Type
Article
Keywords
Adult
Aged
BRCA2 Protein
Family
Female
Genes, BRCA1 - genetics
Germ-Line Mutation - genetics
Heterozygote
Humans
Incidence
Male
Middle Aged
Neoplasm Proteins - genetics
Neoplasms - epidemiology - genetics
Pedigree
Research Support, Non-U.S. Gov't
Retrospective Studies
Sweden - epidemiology
Transcription Factors - genetics
Abstract
We investigated cancer incidence between 1958 and 1995 in 1873 individuals belonging to 29 consecutively identified BRCA1 and 20 BRCA2 associated families from Southern Sweden using data from parish and local tax authorities, as well as the Swedish Cancer Registry, Cause of Death Registry and Census Registry. 150 malignant tumours were analysed from 1145 relatives in the BRCA1 families and 87 tumours were analysed from 728 relatives in the BRCA2 families. After excluding index cases which led to the mutation analysis, the incidence for all malignant tumours was significantly increased for both BRCA1- standardised morbidity rate, SMR, 1.98, 95% confidence interval (CI) 1.59-2.45; P
PubMed ID
10615237 View in PubMed
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19 records – page 1 of 2.