Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: A population-based study from Western Sweden
Department of Oncology, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Cilinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Cilinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.
Show others and affiliations
2007 (English)In: Familial Cancer, ISSN 1389-9600, E-ISSN 1573-7292, Vol. 6, no 1, p. 35-41Article in journal (Refereed) Published
Abstract [en]

Aim: This study aimed to analyze whether the occurrence of both breast and ovarian cancer in a woman serves as a marker for BRCA gene mutations. Material and methods: This population-based study included 256 women in western Sweden who developed both invasive breast and ovarian tumors between 1958 and 1999. Archival paraffin tissue blocks of their tumors were retrieved for DNA-extraction to analyze the founder mutation, BRCA1 c.3171_3175dup (c.3171ins5), which is most common in this geographic area and four other common Scandinavian BRCA1 gene mutations and one BRCA2 mutation. Together, account these mutations for approximately 75% of the BRCA1/2 gene mutations in the clinical unit. Results: Ninteen percent (95% confidence interval (CI) 14-24%) of the women carried one of the analyzed BRCA1 gene mutations but none of the women were positive for the analyzed BRCA2 mutation. One-third of the women with both tumors before age 60 were mutation carriers. BRCA1 c.3171_3175dup (c.3171ins5) constituted 84% of all identified mutations. Although the majority of breast cancers were invasive ductal and atypical medullary types, a variety of other breast malignancies were seen among mutation carriers. Serous ovarian carcinomas predominated among ovarian tumors. A variety of other ovarian tumors, including three granulosa-theca cell tumors, were also observed among mutation carriers. Conclusions: The occurrence of both breast and ovarian cancer in a woman is associated with a high likelihood of a constitutional BRCA1 mutation. These women and their families might therefore be considered for mutation screening after appropriate genetic counselling.

Place, publisher, year, edition, pages
Springer, 2007. Vol. 6, no 1, p. 35-41
Keywords [en]
BRCA, Breast cancer, Hereditary, Ovarian cancer, Population-based study, BRCA1 protein, BRCA2 protein, paraffin, adult, aged, article, cancer classification, cancer invasion, comorbidity, confidence interval, controlled study, DNA extraction, female, founder effect, gene mutation, genetic counseling, genetic marker, geographic distribution, granulosa cell tumor, heterozygote, human, major clinical study, nucleotide sequence, onset age, ovary cancer, ovary carcinoma, ovary tumor, population genetics, priority journal, Scandinavia, Sweden, thecoma, Age of Onset, Breast Neoplasms, Cohort Studies, DNA Mutational Analysis, Genes, BRCA1, Genes, BRCA2, Genetic Screening, Genetics, Population, Humans, Mutation, Neoplasms, Second Primary, Neoplastic Syndromes, Hereditary, Ovarian Neoplasms, Retrospective Studies, Risk Assessment, Tumor Markers, Biological
National Category
Cancer and Oncology
Identifiers
URN: urn:nbn:se:hj:diva-39624DOI: 10.1007/s10689-006-9101-0ISI: 000244306900004PubMedID: 16944270Scopus ID: 2-s2.0-33847165720OAI: oai:DiVA.org:hj-39624DiVA, id: diva2:1211728
Available from: 2018-05-31 Created: 2018-05-31 Last updated: 2018-05-31Bibliographically approved

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textPubMedScopus

Authority records BETA

Bergman, Annika

Search in DiVA

By author/editor
Bergman, Annika
In the same journal
Familial Cancer
Cancer and Oncology

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf