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Androgen receptor gene alterations in Finnish male breast cancer.

https://arctichealth.org/en/permalink/ahliterature186530
Source
Breast Cancer Res Treat. 2003 Jan;77(2):167-70
Publication Type
Article
Date
Jan-2003
Author
Kirsi Syrjäkoski
Eija-R Hyytinen
Tuula Kuukasjärvi
Anssi Auvinen
Olli-P Kallioniemi
Tommi Kainu
Pasi A Koivisto
Author Affiliation
Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampere, Tampere University Hospital, Tampere, Finland.
Source
Breast Cancer Res Treat. 2003 Jan;77(2):167-70
Date
Jan-2003
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Breast Neoplasms, Male - diagnosis - genetics
Cohort Studies
Finland
Genetic Predisposition to Disease
Genetic Testing
Germ-Line Mutation - genetics
Humans
Male
Middle Aged
Mutation - genetics
Prostatic Neoplasms - genetics
Receptors, Androgen - genetics
Risk factors
Abstract
Mutations in the androgen receptor (AR) gene have been suggested to predispose to male breast cancer (MBC). Studies on MBC patients have not been based on the mutation screening of the entire coding region of the AR and the number of subjects has been small. Therefore, some AR gene alterations may have remained undetected. In the present study, we have comprehensively screened the entire coding region of the AR gene for mutations and also studied the role of AR CAG and GGC repeat lengths as risk factors for MBC in a cohort of 32 Finnish MBC patients. To estimate the possible involvement of the prostate cancer predisposing AR Arg726Leu germ-line mutation in MBC, this mutation was tested in 117 MBC patients. No germ-line mutations were found and the CAG and GGC repeat lengths were similar among MBC cases as among Scandinavian population. Our data indicate that the AR gene does not substantially contribute to MBC predisposition.
PubMed ID
12602915 View in PubMed
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BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.

https://arctichealth.org/en/permalink/ahliterature171664
Source
Eur J Hum Genet. 2006 Feb;14(2):167-72
Publication Type
Article
Date
Feb-2006
Author
Pia Vahteristo
Kirsi Syrjäkoski
Tuomas Heikkinen
Hannaleena Eerola
Kristiina Aittomäki
Karl von Smitten
Kaija Holli
Carl Blomqvist
Olli-Pekka Kallioniemi
Heli Nevanlinna
Author Affiliation
Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland. pia.vahteristo@helsinki.fi
Source
Eur J Hum Genet. 2006 Feb;14(2):167-72
Date
Feb-2006
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
DNA Mutational Analysis
Female
Finland
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Mutation, Missense - genetics
Tumor Suppressor Proteins - genetics
Ubiquitin-Protein Ligases - genetics
Abstract
BARD1 (BRCA1-associated RING-domain 1) is a tumor suppressor whose protein product interacts with BRCA1, and in which rare somatic and germline mutations have been reported in breast, uterine, and endometrial cancers. We aimed to evaluate whether there are BARD1 genetic variants that contribute to breast cancer risk by screening the gene for germline alterations in 45 Finnish familial breast cancer patients and in seven patients with both breast and ovarian cancer. Two of the missense alterations identified (Cys557Ser and Val507Met) were recently suggested to associate with an increased breast cancer risk. We also analyzed these variants in large and independent series of familial and unselected breast cancer patients and healthy controls. No clearly deleterious mutations were detected in the initial mutation screening. No association of the Cys557Ser and breast cancer risk was observed as the variant was found altogether in 1.4% (16/1181) of familial and 2.2% (34/1565) of unselected breast cancer patients, and in 2.5% (27/1083) of healthy controls. The frequency of the Val-allele of the Val507Met variant was modestly higher among breast cancer patients than among healthy controls, although the difference did not reach statistical significance. No statistically significant association of the Cys557Ser or Val507Met variants with any clinicopathologic parameters was observed. These results suggest that the contribution of the BARD1 germline variants to breast cancer predisposition is very limited, and that neither Cys557Ser nor Val507Met have an effect on familial breast cancer susceptibility.
PubMed ID
16333312 View in PubMed
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BRCA2 mutations in 154 finnish male breast cancer patients.

https://arctichealth.org/en/permalink/ahliterature17365
Source
Neoplasia. 2004 Sep-Oct;6(5):541-5
Publication Type
Article
Author
Kirsi Syrjäkoski
Tuula Kuukasjärvi
Kati Waltering
Karin Haraldsson
Anssi Auvinen
Ake Borg
Tommi Kainu
Olli-P Kallioniemi
Pasi A Koivisto
Author Affiliation
Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampere, Tampere University Hospital, Tampere, Finland.
Source
Neoplasia. 2004 Sep-Oct;6(5):541-5
Language
English
Publication Type
Article
Keywords
Aged
Aged, 80 and over
Breast Neoplasms, Male - ethnology - genetics
Finland
Founder Effect
Gene Frequency - genetics
Genes, BRCA2
Humans
Male
Middle Aged
Mutation - genetics
Research Support, Non-U.S. Gov't
Abstract
The etiology and pathogenesis of male breast cancer (MBC) are poorly known. This is due to the fact that the disease is rare, and large-scale genetic epidemiologic studies have been difficult to carry out. Here, we studied the frequency of eight recurrent Finnish BRCA2 founder mutations in a large cohort of 154 MBC patients (65% diagnosed in Finland from 1967 to 1996). Founder mutations were detected in 10 patients (6.5%), eight of whom carried the 9346(-2) A>G mutation. Two novel mutations (4075 delGT and 5808 del5) were discovered in a screening of the entire BRCA2 coding region in 34 samples. However, these mutations were not found in the rest of the 120 patients studied. Patients with positive family history of breast and/or ovarian cancer were often BRCA2 mutation carriers (44%), whereas those with no family history showed a low frequency of involvement (3.6%; P
PubMed ID
15548363 View in PubMed
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Coronary artery calcification is related to functional polymorphism of matrix metalloproteinase 3: the Helsinki Sudden Death Study.

https://arctichealth.org/en/permalink/ahliterature188740
Source
Atherosclerosis. 2002 Oct;164(2):329-35
Publication Type
Article
Date
Oct-2002
Author
Perttu J Pöllänen
Terho Lehtimäki
Erkki Ilveskoski
Jussi Mikkelsson
Olli A Kajander
Pekka Laippala
Markus Perola
Sirkka Goebeler
Antti Penttilä
Kari M Mattila
Kirsi Syrjäkoski
Timo Koivula
Seppo T Nikkari
Pekka J Karhunen
Author Affiliation
Laboratory of Atherosclerosis Genetics, Department of Clinical Chemistry, Centre for Laboratory Medicine, Tampere University Hospital, FinnMedi 2 3rd fl., PO Box 2000, FIN-33521, Tampere, Finland.
Source
Atherosclerosis. 2002 Oct;164(2):329-35
Date
Oct-2002
Language
English
Publication Type
Article
Keywords
Adult
Aged
Alleles
Analysis of Variance
Autopsy
Base Sequence
Calcinosis - pathology
Cohort Studies
Coronary Disease - genetics - mortality - pathology
Coronary Vessels - pathology
Death, Sudden, Cardiac - pathology
Finland
Genotype
Humans
Male
Matrix Metalloproteinase 3 - genetics
Middle Aged
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic
Probability
Sensitivity and specificity
Severity of Illness Index
Abstract
Matrix metalloproteinase 3 (MMP3) is expressed in human coronary atherosclerotic lesions and is known to be involved in degradation of the plaque and to be co-localized with calcium and fibrin deposits in advanced lesions, indicating a possible role of MMP3 in arterial calcification. The MMP3 gene promoter polymorphism leads to low promoter activity 6A6A, intermediate promoter activity 5A6A and high promoter activity 5A5A genotypes. To determine whether these genotypes predict the extent of atherosclerosis we investigated their association with different types of coronary lesions in an autopsy series of 300 middle-aged white Finnish men (aged 35-69 years) from the Helsinki Sudden Death Study (HSDS). Areas of the coronary wall covered with different atherosclerotic lesions were measured and MMP3 genotypes were determined by PCR and minisequencing. In men >/=53 years the mean area of calcified lesion in the most severely affected coronary artery was significantly associated with the MMP3 genotype (P=0.029). Subjects with high promoter activity genotypes had on average larger calcified lesion areas than those with the low-activity genotype. The MMP3 genotype (P=0.025) persisted as an independent predictor of mean calcified lesion area after stepwise adjustment for age, BMI, hypertension, diabetes, number of affected vessels and smoking. These data provide evidence that the proposed effect of MMP3 in the process of atherogenesis may be modified by the MMP3 genotype.
PubMed ID
12204805 View in PubMed
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A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes.

https://arctichealth.org/en/permalink/ahliterature19202
Source
Hum Genet. 2002 Feb;110(2):111-21
Publication Type
Article
Date
Feb-2002
Author
Ester Rozenblum
Pia Vahteristo
Therese Sandberg
Jon Thor Bergthorsson
Kirsi Syrjakoski
Don Weaver
Karin Haraldsson
Hrefna Kristin Johannsdottir
Paula Vehmanen
Savita Nigam
Natalie Golberger
Christiane Robbins
Evgenia Pak
Amalia Dutra
Elizabeth Gillander
Dietrich A Stephan
Joan Bailey-Wilson
Suh-Hang Hank Juo
Tommi Kainu
Adalgeir Arason
Rosa Bjork Barkardottir
Heli Nevanlinna
Ake Borg
Olli-P Kallioniemi
Author Affiliation
Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Source
Hum Genet. 2002 Feb;110(2):111-21
Date
Feb-2002
Language
English
Publication Type
Article
Keywords
Base Sequence
Breast Neoplasms - genetics
Chromosome Mapping
Chromosomes, Human, Pair 13
Cloning, Molecular
DNA Primers
DNA, Complementary
Exons
Female
Finland
Genes, BRCA1
Genes, BRCA2
Genetic markers
Homeodomain Proteins
Humans
Iceland
In Situ Hybridization, Fluorescence
Introns
Kruppel-Like Transcription Factors
Molecular Sequence Data
Polymerase Chain Reaction
Sweden
Transcription Factors - genetics
Transcription, Genetic
Zinc Fingers
Abstract
Chromosomal region 13q21-q22 harbors a putative breast cancer susceptibility gene and has been implicated as a common site for somatic deletions in a variety of malignant tumors. We have built a complete physical clone contig for a region between D13S1308 and AFM220YE9 based on 18 yeast artificial chromosome and 81 bacterial artificial chromosome (BAC) clones linked together by 22 genetic markers and 61 other sequence tagged sites. Combining data from 47 sequenced BACs (as of June 2001), we have assembled in silico an integrated 5.7-Mb genomic map with 90% sequence coverage. This area contains eight known genes, two hypothetical proteins, 24 additional Unigene clusters, and approximately 100 predicted genes and exons. We have determined the cDNA and genomic sequence, and tissue expression profiles for the KIAA1008 protein (homologous to the yeast mitotic control protein dis3+), KLF12 (AP-2 repressor), progesterone induced blocking factor 1, zinc finger transcription factor KLF5, and LIM domain only-7, and for the hypothetical proteins FLJ22624 and FLJ21869. Mutation screening of the five known genes in 19 breast cancer families has revealed numerous polymorphisms, but no deleterious mutations. These data provide a basis and resources for further analyses of this chromosomal region in the development of cancer.
PubMed ID
11935316 View in PubMed
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Hemochromatosis gene mutations among Finnish male breast and prostate cancer patients.

https://arctichealth.org/en/permalink/ahliterature173946
Source
Int J Cancer. 2006 Jan 15;118(2):518-20
Publication Type
Article
Date
Jan-15-2006
Author
Kirsi Syrjäkoski
Henna Fredriksson
Tarja Ikonen
Tuula Kuukasjärvi
Ville Autio
Mika P Matikainen
Teuvo L J Tammela
Pasi A Koivisto
Johanna Schleutker
Author Affiliation
Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampereand Tampere University Hospital, Tampere, Finland.
Source
Int J Cancer. 2006 Jan 15;118(2):518-20
Date
Jan-15-2006
Language
English
Publication Type
Article
Keywords
Aged
Aged, 80 and over
Breast Neoplasms, Male - genetics
Case-Control Studies
DNA Mutational Analysis
Female
Finland
Genetic Predisposition to Disease
Histocompatibility Antigens Class I - genetics
Humans
Male
Membrane Proteins - genetics
Middle Aged
Prostatic Neoplasms - genetics
Risk factors
Abstract
Hereditary hemochromatosis (HH), the most common genetic disease in northern Europeans, is an autosomal recessive disorder of iron metabolism. The association between hepatocellular carcinoma and HFE homozygosity is well documented, but recently HFE hetero- and homozygosity has also been linked to nonhepatocellular malignancies, including female breast cancer. We hypothesized that C282Y and H63D mutations in the HFE gene could contribute to male breast cancer (MBC) and prostate cancer (PC) susceptibility at the population level in Finland. We screened the 2 major HFE mutations, H63D and C282Y, from 116 MBC cases diagnosed in Finland between 1967 and 1996, 843 consecutive unselected PC cases diagnosed at the Pirkanmaa Hospital District between 1999 and 2001 and 480 anonymous blood donor controls by minisequencing. Our results indicate that the frequencies of the HFE mutations do not significantly differ between MBC and PC patients and the population-based controls. No significantly altered risks for MBC or PC among carriers of the 2 variants were observed. However, HFE mutations were seen twice as often among carriers of a common BRCA2 mutation 9346(-2)A-->G compared with the rest of the MBC cases, indicating that HFE may be an MBC risk modifier gene among BRCA2 mutation carriers. In conclusion, our results indicate a minor role for the HFE mutations C282Y and H63D in the causation of MBC and PC, but carriers of both BRCA2 9346(-2)A-->G and an HFE mutation may be at an increased risk.
PubMed ID
16003728 View in PubMed
Less detail

Large genomic BRCA2 rearrangements and male breast cancer.

https://arctichealth.org/en/permalink/ahliterature166457
Source
Cancer Detect Prev. 2006;30(6):530-4
Publication Type
Article
Date
2006
Author
Ritva Karhu
Eeva Laurila
Anne Kallioniemi
Kirsi Syrjäkoski
Author Affiliation
Laboratory of Cancer Genetics, Tampere University Hospital and Institute of Medical Technology, University of Tampere, Teiskontie 35, FIN-33520 Tampere, Finland. ritva.karhu@uta.fi
Source
Cancer Detect Prev. 2006;30(6):530-4
Date
2006
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Breast Neoplasms, Male - genetics - prevention & control
Chromosomes, Human, Pair 13 - genetics
DNA Mutational Analysis - methods
DNA Probes
Finland
Gene Rearrangement
Genes, BRCA2
Humans
Male
Mass Screening
Middle Aged
Mutation
Nucleic Acid Amplification Techniques - methods
Abstract
Germ-line mutations of the BRCA2 gene are the highest known risk factors for male breast cancer (MBC). Mutations in BRCA2 are mainly point mutations in contrast to BRCA1 in which large genomic rearrangements are quite common. In recent literature, however, genomic alterations of BRCA2 have been linked especially to male breast cancer families. We wanted to screen large genomic deletions and duplications of BRCA2 among Finnish male breast cancer patients.
We used multiplex ligation-dependent probe amplification (MLPA) to detect large genomic rearrangements in the BRCA2 gene among 36 unselected Finnish male breast cancer patients previously tested and found negative for Finnish BRCA1 and BRCA2 founder mutations.
No genomic mutations of BRCA2 nor CHEK2*1100delC point mutations, also included in the assay, were found in this study.
Large genomic BRCA2 rearrangements were not found among our 36 Finnish male breast cancer patients. Screening of large BRCA2 rearrangements is not likely to be advantageous in Finland.
PubMed ID
17113724 View in PubMed
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Search for large genomic alterations of the BRCA1 gene in a Finnish population.

https://arctichealth.org/en/permalink/ahliterature172119
Source
Cancer Genet Cytogenet. 2005 Nov;163(1):57-61
Publication Type
Article
Date
Nov-2005
Author
Eeva Laurila
Kirsi Syrjäkoski
Kaija Holli
Anne Kallioniemi
Ritva Karhu
Author Affiliation
Laboratory of Cancer Genetics and Institute of Medical Technology, University of Tampere, Teiskontie 35, Tampere FIN-33521, Finland. .
Source
Cancer Genet Cytogenet. 2005 Nov;163(1):57-61
Date
Nov-2005
Language
English
Publication Type
Article
Keywords
Adult
Breast Neoplasms - genetics
Exons
Female
Finland
Gene Amplification
Genes, BRCA1
Humans
Mutation
Ovarian Neoplasms - genetics
Sequence Deletion
Abstract
Mutations in the BRCA1 and BRCA2 genes are known to predispose to breast cancer. In Finland, however, only 21% of all breast cancer families have mutations in these genes. Recent studies have shown that large genomic alterations of BRCA1 are common in many countries. Because such alterations will be missed in conventional mutation screening strategies, we decided to screen Finnish breast and ovarian cancer families for genomic alterations by using a multiplex polymerase chain reaction method. The most characteristic features of BRCA1-related breast cancer were used to select patients, namely (1) both breast and ovarian cancer in the family (48 patients), (2) four or more breast cancers in family (22 patients), or (3) young age (
PubMed ID
16271956 View in PubMed
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9 records – page 1 of 1.