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Actor-network theory: a tool to support ethical analysis of commercial genetic testing.

https://arctichealth.org/en/permalink/ahliterature180338
Source
New Genet Soc. 2003 Dec;22(3):271-96
Publication Type
Article
Date
Dec-2003
Author
Bryn Williams-Jones
Janice E Graham
Author Affiliation
Centre for Family Research & Homerton College, University of Cambridge, UK.
Source
New Genet Soc. 2003 Dec;22(3):271-96
Date
Dec-2003
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
Canada
Diffusion of Innovation
Female
Genes, BRCA1
Genes, BRCA2
Genetic Counseling
Genetic Research
Genetic Services - economics - ethics - trends
Genetic Testing - economics - ethics - methods
Health Services Accessibility
Humans
Industry
Internationality
Marketing
Models, organizational
Patents as Topic
Private Sector
Public Policy
Public Sector
Research Support as Topic
Sensitivity and specificity
Technology Assessment, Biomedical
Technology Transfer
Abstract
Social, ethical and policy analysis of the issues arising from gene patenting and commercial genetic testing is enhanced by the application of science and technology studies, and Actor-Network Theory (ANT) in particular. We suggest the potential for transferring ANT's flexible nature to an applied heuristic methodology for gathering empirical information and for analysing the complex networks involved in the development of genetic technologies. Three concepts are explored in this paper--actor-networks, translation, and drift--and applied to the case of Myriad Genetics and their commercial BRACAnalysis genetic susceptibility test for hereditary breast cancer. Treating this test as an active participant in socio-technical networks clarifies the extent to which it interacts with, shapes and is shaped by people, other technologies, and institutions. Such an understanding enables more sophisticated and nuanced technology assessment, academic analysis, as well as public debate about the social, ethical and policy implications of the commercialization of new genetic technologies.
PubMed ID
15115034 View in PubMed
Less detail

Allelic transcripts dosage effect in morphologically normal ovarian cells from heterozygous carriers of a BRCA1/2 French Canadian founder mutation.

https://arctichealth.org/en/permalink/ahliterature126306
Source
Cancer Prev Res (Phila). 2012 May;5(5):765-77
Publication Type
Article
Date
May-2012
Author
Diala Abd-Rabbo
Christine Abaji
Guillaume B Cardin
Abdelali Filali-Mouhim
Caroline Arous
Lise Portelance
Enrique Escobar
Sophie Cloutier
Patricia N Tonin
Diane M Provencher
Anne-Marie Mes-Masson
Christine M Maugard
Author Affiliation
Institut du cancer de Montréal/Centre de recherche du Centre hospitalier de l'Université de Montréal, Québec, Canada.
Source
Cancer Prev Res (Phila). 2012 May;5(5):765-77
Date
May-2012
Language
English
Publication Type
Article
Keywords
Adult
Aged
Alleles
Canada
Cells, Cultured
DNA Mutational Analysis
Female
Founder Effect
Gene Dosage - physiology
Genes, BRCA1 - physiology
Genes, BRCA2 - physiology
Heterozygote
Humans
Middle Aged
Mutation
Ovary - chemistry - cytology - metabolism
Penetrance
Quebec
RNA, Messenger - analysis - genetics
Validation Studies as Topic
Abstract
We hypothesized that the transcriptome of primary cultures of morphologically normal ovarian surface epithelial cells could be altered by the presence of a heterozygous BRCA1 or BRCA2 mutation. We aimed to discover early events associated with ovarian carcinogenesis, which could represent putative targets for preventive strategies of this silent killer tumor. We identified the first molecular signature associated with French Canadian BRCA1 or BRCA2 founder mutations in morphologically normal ovarian epithelial cells. We discovered that wild-type and mutated BRCA2 allelic transcripts were expressed not only in morphologically normal but also in tumor cells from BRCA2-8765delAG carriers. Further analysis of morphologically normal ovarian and tumor cells from BRCA1-4446C>T carriers lead to the same observation. Our data support the idea that one single hit in BRCA1 or BRCA2 is sufficient to alter the transcriptome of phenotypically normal ovarian epithelial cells. The highest level of BRCA2-mutated allele transcript expression was measured in cells originating from the most aggressive ovarian tumor. The penetrance of the mutation and the aggressiveness of the related tumor could depend on a dosage effect of the mutated allele transcript.
PubMed ID
22401979 View in PubMed
Less detail

Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families.

https://arctichealth.org/en/permalink/ahliterature118982
Source
J Hum Genet. 2013 Feb;58(2):59-66
Publication Type
Article
Date
Feb-2013
Author
Karine V Plourde
Yvan Labrie
Sylvie Desjardins
Pascal Belleau
Geneviève Ouellette
Francine Durocher
Author Affiliation
Cancer Genomics Laboratory, Oncology and Molecular Endocrinology Research Centre, Centre Hospitalier Universitaire de Québec and Laval University, Québec City, QC, Canada.
Source
J Hum Genet. 2013 Feb;58(2):59-66
Date
Feb-2013
Language
English
Publication Type
Article
Keywords
Base Sequence
Breast Neoplasms - genetics
Canada
DNA Primers
Female
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease
Haplotypes
Humans
Linkage Disequilibrium
Polymerase Chain Reaction
Promoter Regions, Genetic
Repressor Proteins - genetics
Abstract
ZNF350/ZBRK1 is a transcription factor, which associates with BRCA1 to co-repress GADD45A to regulate DNA damage repair, and the expression of ZNF350 is altered in different human carcinomas. In a previous study, we identified ZNF350 genomic variants potentially involved in breast cancer susceptibility in high-risk non-BRCA1/2 breast cancer individuals, which pointed toward a potential association for variants in the 5'-UTR and promoter regions. Therefore, direct sequencing was undertaken and identified 12 promoter variants, whereas haplotype analyses put in evidence four common haplotypes with a frequency>2%. However, based on their frequency observed in breast cancer and unrelated healthy individuals, these are not statistically associated with breast cancer risk. Luciferase promoter assays in two breast cancer cell lines identified two haplotypes (H11 and H12) stimulating significantly the expression of ZNF350 transcript compared with the common haplotype H8. The high expression of the H11 allele was associated with the variant c.-874A. Using MatInspector and Transcription Element Search softwares, in silico analyses predicted that the variant c.-874A created a binding site for the factors c-Myc and myogenin. This study represents the first characterization step of the ZNF350 promoter. Additional studies in larger cohorts and other populations will be needed to further evaluate whether common and/or rare ZNF350 promoter variants and haplotypes could be associated with a modest risk of breast cancer.
Notes
Comment In: J Hum Genet. 2013 Feb;58(2):5823223009
PubMed ID
23151675 View in PubMed
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Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.

https://arctichealth.org/en/permalink/ahliterature302452
Source
J Natl Cancer Inst. 2018 Sep 1;110(9):967-974. doi: 10.1093/jnci/djy002.
Publication Type
Article
Date
2018
Author
Rafnar T
Sigurjonsdottir GR
Stacey SN
Halldorsson G
Sulem P
Pardo LM
Helgason H
Sigurdsson ST
Gudjonsson T
Tryggvadottir L
Olafsdottir GH
Jonasson JG
Alexiusdottir K
Sigurdsson A
Gudmundsson J
Saemundsdottir J
Sigurdsson JK
Johannsdottir H
Uitterlinden A
Vermeulen SH
Galesloot TE
Allain DC
Lacko M
Sigurgeirsson B
Thorisdottir K
Johannsson OT
Sigurdsson F
Ragnarsson GB
Isaksson H
Hardardottir H
Gudbjartsson T
Gudbjartsson DF
Masson G
Kiemeney LAML
Ewart Toland A
Nijsten T
Peters WHM
Olafsson JH
Jonsson S
Thorsteinsdottir U
Thorleifsson G
Stefansson K
Source
J Natl Cancer Inst. 2018 Sep 1;110(9):967-974. doi: 10.1093/jnci/djy002.
Date
2018
Language
English
Geographic Location
Iceland
U.S.
Multi-National
Publication Type
Article
Keywords
Alleles
Carcinoma, Squamous Cell
Genetics
Genes, BRCA2
Genetic Predisposition to Disease
Genotype
Humans
Epidemiology
Lung Neoplasms
Mutation
Odds Ratio
Polymorphism, Single Nucleotide
Skin Neoplasms
Small Cell Lung Carcinoma
Abstract
BACKGROUND: Most pathogenic mutations in the BRCA2 gene carry a high risk of hereditary breast and ovarian cancer (HBOC). However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer. The Icelandic population provides an opportunity for comprehensive characterization of the cancer risk profiles of K3326* and HBOC mutations because a single mutation, BRCA2 999del5, is responsible for almost all BRCA2-related HBOC in the population.
METHODS: Genotype information on 43?641 cancer patients and 370?971 control subjects from Iceland, the Netherlands, and the United States was used to assess the cancer risk profiles of K3326* and BRCA2 999del5. BRCA2 expression was assessed using RNAseq data from blood (n = 2233), as well as 52 tissues reported in the GTEx database.
RESULTS: The cancer risks associated with K3326* are fundamentally different from those associated with 999del5. We report for the first time an association between K3326* and small cell lung cancer (odds ratio [OR] = 2.06, 95% confidence interval [CI] = 1.35 to 3.16) and squamous cell carcinoma of the skin (OR = 1.69, 95% CI = 1.26 to 2.26). Individuals homozygous for K3326* reach old age and have children. Unlike BRCA2 999del5, the K3326* allele does not affect the level of BRCA2 transcripts, and the allele is expressed to the same extent as the wild-type allele.
CONCLUSIONS: K3326* associates primarily with cancers that have strong environmental genotoxic risk factors. Expression of the K3326* allele suggests that a variant protein may be made that retains the DNA repair capabilities important to hormone-responsive tissues but may be less efficient in responding to genotoxic stress.
PubMed ID
29767749 View in PubMed
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The BARD1 Cys557Ser variant and breast cancer risk in Iceland.

https://arctichealth.org/en/permalink/ahliterature81881
Source
PLoS Med. 2006 Jul;3(7):e217
Publication Type
Article
Date
Jul-2006
Author
Stacey Simon N
Sulem Patrick
Johannsson Oskar T
Helgason Agnar
Gudmundsson Julius
Kostic Jelena P
Kristjansson Kristleifur
Jonsdottir Thora
Sigurdsson Helgi
Hrafnkelsson Jon
Johannsson Jakob
Sveinsson Thorarinn
Myrdal Gardar
Grimsson Hlynur Niels
Bergthorsson Jon T
Amundadottir Laufey T
Gulcher Jeffrey R
Thorsteinsdottir Unnur
Kong Augustine
Stefansson Kari
Author Affiliation
deCODE Genetics, Reykjavik, Iceland. simon.stacey@decode.is
Source
PLoS Med. 2006 Jul;3(7):e217
Date
Jul-2006
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Aged
Alleles
Amino Acid Substitution
Breast Neoplasms - ethnology - genetics
Carcinoma in Situ - ethnology - genetics
Carcinoma, Ductal, Breast - ethnology - genetics
Carcinoma, Intraductal, Noninfiltrating - ethnology - genetics
Carcinoma, Lobular - ethnology - genetics
Carcinoma, Medullary - ethnology - genetics
Case-Control Studies
Cluster analysis
Cohort Studies
Female
Founder Effect
Gene Frequency
Genes, BRCA2
Genetic Predisposition to Disease
Genotype
Haplotypes
Humans
Iceland - epidemiology
Middle Aged
Mutation, Missense
Neoplastic Syndromes, Hereditary - ethnology - genetics
Odds Ratio
Point Mutation
Polymorphism, Single Nucleotide
Risk
Sequence Deletion
Tumor Suppressor Proteins - genetics - physiology
Ubiquitin-Protein Ligases - genetics - physiology
Abstract
BACKGROUND: Most, if not all, of the cellular functions of the BRCA1 protein are mediated through heterodimeric complexes composed of BRCA1 and a related protein, BARD1. Some breast-cancer-associated BRCA1 missense mutations disrupt the function of the BRCA1/BARD1 complex. It is therefore pertinent to determine whether variants of BARD1 confer susceptibility to breast cancer. Recently, a missense BARD1 variant, Cys557Ser, was reported to be at increased frequencies in breast cancer families. We investigated the role of the BARD1 Cys557Ser variant in a population-based cohort of 1,090 Icelandic patients with invasive breast cancer and 703 controls. We then used a computerized genealogy of the Icelandic population to study the relationships between the Cys557Ser variant and familial clustering of breast cancer. METHODS AND FINDINGS: The Cys557Ser allele was present at a frequency of 0.028 in patients with invasive breast cancer and 0.016 in controls (odds ratio [OR] = 1.82, 95% confidence interval [CI] 1.11-3.01, p = 0.014). The alleleic frequency was 0.037 in a high-predisposition group of cases defined by having a family history of breast cancer, early onset of breast cancer, or multiple primary breast cancers (OR = 2.41, 95% CI 1.22-4.75, p = 0.015). Carriers of the common Icelandic BRCA2 999del5 mutation were found to have their risk of breast cancer further increased if they also carried the BARD1 variant: the frequency of the BARD1 variant allele was 0.047 (OR = 3.11, 95% CI 1.16-8.40, p = 0.046) in 999del5 carriers with breast cancer. This suggests that the lifetime probability of a BARD1 Cys557Ser/BRCA2 999del5 double carrier developing breast cancer could approach certainty. Cys557Ser carriers, with or without the BRCA2 mutation, had an increased risk of subsequent primary breast tumors after the first breast cancer diagnosis compared to non-carriers. Lobular and medullary breast carcinomas were overrepresented amongst Cys557Ser carriers. We found that an excess of ancestors of contemporary carriers lived in a single county in the southeast of Iceland and that all carriers shared a SNP haplotype, which is suggestive of a founder event. Cys557Ser was found on the same SNP haplotype background in the HapMap Project CEPH sample of Utah residents. CONCLUSIONS: Our findings suggest that BARD1 Cys557Ser is an ancient variant that confers risk of single and multiple primary breast cancers, and this risk extends to carriers of the BRCA2 999del5 mutation.
PubMed ID
16768547 View in PubMed
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Being young, female, and BRCA positive.

https://arctichealth.org/en/permalink/ahliterature120673
Source
Am J Nurs. 2012 Oct;112(10):26-31, quiz 46, 32
Publication Type
Article
Date
Oct-2012
Author
Rebekah Hamilton
Author Affiliation
College of Nursing, Rush University, Chicago, IL, USA. rebekah_hamilton@rush.edu
Source
Am J Nurs. 2012 Oct;112(10):26-31, quiz 46, 32
Date
Oct-2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Breast Neoplasms - genetics
Canada
Education, Nursing, Continuing
Female
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease
Humans
Ovarian Neoplasms - genetics
United States
Young Adult
Abstract
Women who carry a BRCA1 or BRCA2 gene mutation face a risk of developing breast or ovarian cancer at an earlier age than women without such a mutation. Relatively little is known about the psychosocial consequences-especially regarding marriage and childbearing-in young women who test positive for one of these mutations.
In 2006, participants were recruited from Web sites for women with breast cancer or BRCA gene mutations. Forty-four women ages 18 to 39 from 22 states and Canada who had had genetic testing and were found to carry a BRCA mutation were interviewed by phone or e-mail. A qualitative, grounded theory analysis was performed on the data, focusing on the participants' being young and having had genetic testing for the BRCA mutation. The findings reported here focus on three characteristics of the participants-whether or not they were married, had children, or had a breast cancer diagnosis-and how those characteristics were affected by the women's knowledge of their genetic risk.
Among the 13 unmarried participants, issues of when to disclose information about their genetic risk in intimate relationships were discussed. Many of the 24 participants who had children reported "staying alive" for their children as a primary goal; the childless women reported an urgency to have children. Of the 21 who had a breast cancer diagnosis, the youngest was 24 years old, and several said knowledge of their genetic risk influenced their decision to have the unaffected breast removed prophylactically.
A sense of being different and not understood was expressed in these interviews. These findings suggest that nurses should be aware of psychosocial issues, especially those surrounding marriage and childbearing, in their interactions with young women who carry a BRCA1 or BRCA2 gene mutation.
PubMed ID
22982855 View in PubMed
Less detail

"Be ready against cancer, now": direct-to-consumer advertising for genetic testing.

https://arctichealth.org/en/permalink/ahliterature165052
Source
New Genet Soc. 2006 Apr;25(1):89-107
Publication Type
Article
Date
Apr-2006
Author
Bryn William-Jones
Author Affiliation
Programmes de bioethique, Universite de Montreal, C.P. 6128, Succursale Centre-Ville, Montreal (Quebec) Canada H3C 3J7. bryn.williams-jones@umontreal.ca
Source
New Genet Soc. 2006 Apr;25(1):89-107
Date
Apr-2006
Language
English
Publication Type
Article
Keywords
Advertising as Topic - ethics - methods
Breast Neoplasms - diagnosis - genetics
Canada
Consumer Participation
Europe
Female
Genes, BRCA1
Genes, BRCA2
Genetic Services - economics
Genetic Testing - economics - ethics
Government Regulation
Humans
Industry
Internet
Mass Media
United States
Abstract
A recent addition to the debate about the benefits and harms of direct-to-consumer (DTC) advertising of medicines and pharmaceuticals is a growing critique of DTC marketing and sale of genetic tests. Academic and policy literatures exploring this issue have, however, tended to focus on the sale of genetic tests, paying rather less attention to the particular implications of advertising. The globalization of broadcast media and ever increasing access to the Internet mean that public exposure to advertising for medical technologies is a reality that national regulatory bodies will be hard pressed to constrain. Working through a case study detailing Myriad Genetics' 2002 pilot advertising campaign for their BRACAnalysis genetic susceptibility test for hereditary breast and ovarian cancer, this paper highlights some of the diverse and often overlooked and unregulated approaches to DTC advertising, and the associated social, ethical and policy implications.
PubMed ID
17312631 View in PubMed
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Bilateral prophylactic mastectomy in Swedish women at high risk of breast cancer: a national survey.

https://arctichealth.org/en/permalink/ahliterature134424
Source
Ann Surg. 2011 Jun;253(6):1147-54
Publication Type
Article
Date
Jun-2011
Author
Brita Arver
Karin Isaksson
Hans Atterhem
Annika Baan
Leif Bergkvist
Yvonne Brandberg
Hans Ehrencrona
Monica Emanuelsson
Henrik Hellborg
Karin Henriksson
Per Karlsson
Niklas Loman
Jonas Lundberg
Anita Ringberg
Marie Stenmark Askmalm
Marie Wickman
Kerstin Sandelin
Author Affiliation
Department of Oncology and Pathology, Karolinska Institutet, Stockholm, Sweden.
Source
Ann Surg. 2011 Jun;253(6):1147-54
Date
Jun-2011
Language
English
Publication Type
Article
Keywords
Adult
Aged
Breast Neoplasms - epidemiology - genetics - pathology - surgery
Female
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease
Health Care Surveys
Humans
Incidence
Mastectomy
Middle Aged
Reoperation
Risk assessment
Risk factors
Sweden - epidemiology
Abstract
This study attempted a national inventory of all bilateral prophylactic mastectomies performed in Sweden between 1995 and 2005 in high-risk women without a previous breast malignancy. The primary aim was to investigate the breast cancer incidence after surgery. Secondary aims were to describe the preoperative risk assessment, operation techniques, complications, histopathological findings, and regional differences.
Geneticists, oncologists and surgeons performing prophylactic breast surgery were asked to identify all women eligible for inclusion in their region. The medical records were reviewed in each region and the data were analyzed centrally. The BOADICEA risk assessment model was used to calculate the number of expected/prevented breast cancers during the follow-up period.
A total of 223 women operated on in 8 hospitals were identified. During a mean follow-up of 6.6 years, no primary breast cancer was observed compared with 12 expected cases. However, 1 woman succumbed 9 years post mastectomy to widespread adenocarcinoma of uncertain origin. Median age at operation was 40 years. A total of 58% were BRCA1/2 mutation carriers. All but 3 women underwent breast reconstruction, 208 with implants and 12 with autologous tissue. Four small, unifocal, invasive cancers and 4 ductal carcinoma in situ were found in the mastectomy specimens. The incidence of nonbreast related complications was low (3%). Implant loss due to infection/necrosis occurred in 21 women (10%) but a majority received a new implant later. In total, 64% of the women underwent at least 1unanticipated secondary operation.
Bilateral prophylactic mastectomy is safe and efficacious in reducing future breast cancer in asymptomatic women at high risk. Unanticipated reoperations are common. Given the small number of patients centralization seems justified.
PubMed ID
21587115 View in PubMed
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BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.

https://arctichealth.org/en/permalink/ahliterature171141
Source
Breast Cancer Res. 2006;8(1):R3
Publication Type
Article
Date
2006
Author
Antonis C Antoniou
Francine Durocher
Paula Smith
Jacques Simard
Douglas F Easton
Author Affiliation
Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. antonis@srl.cam.ac.uk
Source
Breast Cancer Res. 2006;8(1):R3
Date
2006
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Breast Neoplasms - epidemiology - etiology - genetics
Canada - epidemiology
DNA Mutational Analysis
Female
France - ethnology
Genes, BRCA1
Genes, BRCA2
Genetic Counseling
Genetic Predisposition to Disease
Humans
Middle Aged
Models, Theoretical
Ovarian Neoplasms - epidemiology - etiology - genetics
Pedigree
Predictive value of tests
Risk assessment
Sensitivity and specificity
Abstract
Several genetic risk models for breast and ovarian cancer have been developed, but their applicability to specific populations has not been evaluated. We used data from French-Canadian families to evaluate the mutation predictions given by the BRCAPRO and BOADICEA models. We also used this data set to estimate the age-specific risks for breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.
A total of 195 families with multiple affected individuals with breast or ovarian cancer were recruited through the INHERIT (INterdisciplinary HEalth Research International Team on BReast CAncer susceptibility) BRCAs research program. Observed BRCA1 and BRCA2 mutation status was compared with predicted carrier probabilities under the BOADICEA and BRCAPRO models. The models were assessed using Brier scores, attributes diagrams and receiver operating characteristic curves. Log relative risks for breast and ovarian cancer in mutation carriers versus population risks were estimated by maximum likelihood, using a modified segregation analysis implemented in the computer program MENDEL. Twenty-five families were eligible for inclusion in the BRCA1 penetrance analysis and 27 families were eligible for the BRCA2 penetrance analysis.
The BOADICEA model predicted accurately the number of BRCA1 and BRCA2 mutations for the various groups of families, and was found to discriminate well at the individual level between carriers and noncarriers. BRCAPRO over-predicted the number of mutations in almost all groups of families, in particular the number of BRCA1 mutations. It significantly overestimated the carrier frequency for high predicted probabilities. However, it discriminated well between carriers and noncarriers. Receiver operating characteristic (ROC) curves indicate similar sensitivity and specificity for BRCAPRO and BOADICEA. The estimated risks for breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers were consistent with previously published estimates.
The BOADICEA model predicts accurately the carrier probabilities in French-Canadian families and may be used for counselling in this population. None of the penetrance estimates was significantly different from previous estimates, suggesting that previous estimates may be appropriate for counselling in this population.
Notes
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PubMed ID
16417652 View in PubMed
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BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.

https://arctichealth.org/en/permalink/ahliterature92974
Source
Clin Cancer Res. 2008 Jun 15;14(12):3761-7
Publication Type
Article
Date
Jun-15-2008
Author
Soegaard Marie
Kjaer Susanne Kruger
Cox Mark
Wozniak Eva
Høgdall Estrid
Høgdall Claus
Blaakaer Jan
Jacobs Ian J
Gayther Simon A
Ramus Susan J
Author Affiliation
Institute of Cancer Epidemiology, Danish Cancer Society.
Source
Clin Cancer Res. 2008 Jun 15;14(12):3761-7
Date
Jun-15-2008
Language
English
Publication Type
Article
Keywords
Adult
Aged
Denmark
Family Health
Female
Gene Frequency
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease
Genetics, Population
Humans
Linkage (Genetics)
Middle Aged
Mutation
Ovarian Neoplasms - genetics
Registries
Abstract
PURPOSE: To evaluate the prevalence of BRCA1 and BRCA2 mutations and associations with clinical correlates of disease in a population-based series of ovarian cancer cases from Denmark. METHODS: DNA sequencing and multiplex ligation-dependent probe amplification analysis were used to analyze the BRCA1 and BRCA2 genes for coding sequence mutations and large genomic rearrangements in 445 confirmed cases of ovarian cancer. We evaluated associations between mutation status and clinical characteristics, including cancer risks for first-degree relatives and clinicopathologic features of tumors. RESULTS: Deleterious BRCA1 or BRCA2 mutations were identified in 26 cases; thus, mutations in these genes are responsible for at least 5.8% of ovarian cancer cases in this population. Five different mutations were identified in more than one individual, suggesting that they may be founder mutations in Denmark. We identified several differences between mutation carriers and noncarriers: mutation carriers were diagnosed at a significantly early age (median, 49 and 61 years, respectively; P = 0.0001); the frequency of BRCA1 mutation carriers was 23% for women diagnosed or =60 years (P = 0.00002); ovarian cancer in carriers was diagnosed at a later stage (P = 0.002) and tumors were of poorer grade (P = 0.0001); and first-degree relatives of mutation carriers had greater relative risks of both ovarian cancer [10.6 (95% confidence interval, 4.2-26.6); P
PubMed ID
18559594 View in PubMed
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