Contribution of<i>BRCA1</i>Mutations to Ovarian Cancer
New England Journal of MedicinePublished 17 April 1997Open access
J. F. Stratton, Simon A. Gayther, Paul A. Russell, Jo Dearden, Martin Gore, Peter Blake
Citations235
SJR quartileQ1
SJR score19.08
SNIP13.47
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
TL;DR
Assuming that the method has a sensitivity of 70 percent, mutations in BRCA1 occur in approximately 5 percent (95 percent confidence interval, 3 to 8 percent) of women in whom ovarian cancer is diagnosed before the age of 70 years.
Abstract
Assuming that our method has a sensitivity of 70 percent, mutations in BRCA1 occur in approximately 5 percent (95 percent confidence interval, 3 to 8 percent) of women in whom ovarian cancer is diagnosed before the age of 70 years.
Keywords
Biochemistry, Genetics and Molecular Biology
ScienceA Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene <i>BRCA1</i>
6,105 Citations1994Yoshio Miki, Jeffrey Swensen +43 more
A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods.
PubMedBreast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.
1,587 Citations1995Douglas F. Easton, Deborah Ford +1 more
Data from families with evidence of linkage to BRCA1 is used to estimate the age-specific risks of breast and ovarian cancer in BRCa1-mutation carriers and to examine the variation in risk between and within families.
Nature GeneticsConfirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
629 Citations1994Lori S. Friedman, Elizabeth Ostermeyer +5 more
Genetic evidence supporting the identity of the candidate gene for BRCA1 through the characterization of germline mutations in 63 breast cancer patients and 10 ovarian cancer patients in ten families with cancer linked to chromosome 17q21 is provided.
American Journal of Medical GeneticsUnusual case of Smith‐Lemli‐Opitz syndrome “type II”
588 Citations1995Mary J. Seller, J. A. Russell +1 more
The findings in this fetus extend the wide spectrum of abnormalities of the SLO phenotype, and emphasize that a genetic pathological examination and biochemical studies should always be undertaken on atypical cases, especially fetuses.
PubMedEstimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence.
537 Citations1995D Ford, Douglas F. Easton +1 more
The results suggest that the majority of breast cancer families with less than four cases and no ovarian cancer are not due to rare highly penetrant genes such as BRCA1 but are more likely to be due either to chance or to more common genes of lower penetrance.
Nature GeneticsGermline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation
500 Citations1995Simon A. Gayther, William Warren +14 more
Analysis of families with a history of breast and/or ovarian cancer for germline mutations in BRCA1 suggests a transition in risk such that mutations in the 3′ third of the gene are associated with a lower proportion of ovarian cancer.
New England Journal of MedicineClinical and Pathological Features of Ovarian Cancer in Women with Germ-Line Mutations of<i>BRCA1</i>
431 Citations1996Stephen C. Rubin, Ivor Benjamin +10 more
As compared with sporadic ovarian cancers, cancers associated with BRCA1 mutation appear to have a significantly more favorable clinical course.
Nature GeneticsMutations in the BRCA1 gene in families with early-onset breast and ovarian cancer
388 Citations1994Lucio H. Castilla, Fergus J. Couch +10 more
The heterogeneity of mutations, coupled with the large size of the gene, indicates that clinical application of BRCA1 mutation testing will be technically challenging.
New England Journal of MedicineGerm-Line<i>BRCA1</i>Mutations in Jewish and Non-Jewish Women with Early-Onset Breast Cancer
388 Citations1996Michael G. FitzGerald, Deborah J. MacDonald +17 more
Nature GeneticsSomatic mutations in the BRCA1 gene in sporadic ovarian tumours
373 Citations1995Sofía D. Merajver, Trinh M. Pham +8 more
Somatic mutations in the DNA of four tumours which also had loss of heterozygosity (LOH) at a BRCA1 intragenic marker support a tumour suppressor mechanism for BRCa1; somatic mutations and LOH may result in inactivation of BRC a1 in at least a small number of ovarian cancers.
Nature GeneticsCommon origins of BRCA1 mutations in Canadian breast and ovarian cancer families
328 Citations1994Jacques Simard, Patricia N. Tonin +14 more
New England Journal of Medicine<i>BRCA1</i>Mutations in a Population-Based Sample of Young Women with Breast Cancer
288 Citations1996Amelia Langston, Kathleen E. Malone +3 more
These results represent a minimal estimate of the frequency of BRCA1 mutations in this population of young women with breast cancer and show the risk of harboring a mutation was not limited to women with family histories of breast or ovarian cancer.
Human MutationMutations and Polymorphisms in the familial early-onset breast cancer (BRCA1) gene
284 Citations1996Fergus J. Couch, Barbara L. Weber +1 more
A total of 254 BRCA1 mutations, 132 of which are unique, are reported here, which represent mutations entered into a database established by the Breast Cancer Information Core (BIC), which have appeared in the literature or have been submitted by BIC members and other contributors prior to publication.
PubMedMutation analysis of the BRCA1 gene in ovarian cancers.
196 Citations1995Hiroyuki Takahashi, Kian Behbakht +8 more
The hypothesis that BRCA1 mutations are involved in the etiology of hereditary ovarian carcinomas but occur rarely in sporadic tumors, and that the frequent allelic loss on chromosome 17q in this cancer type reflects the involvement of an additional tumor suppressor gene(s), is supported.
Human Molecular GeneticsMutation analysis of the <i>BRCA1</i> gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation
81 Citations1995Mieko Matsushima, Kanji Kobayashi +4 more
The evidence reported here supports a rather limited role of BRCA1 in ovarian carcinogenesis in the Japanese population.
PubMedRapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. UKCCCR Familial Ovarian Cancer Study Group.
78 Citations1996Simon A. Gayther, Patricia Harrington +4 more
A multiplex heteroduplex analysis is developed that is designed to analyze one-quarter of the coding sequence in a single-step screening procedure and that will detect approximately 50% of all BRCA1 mutations so far reported in breast/ovarian cancer families.
Human Molecular GeneticsMouse <i>Brca1</i>: localization, sequence analysis and identification of evolutionarily conserved domains
68 Citations1995Kenneth J. Abel, Junzhe Xu +4 more
The sequence and isolated cDNAs will provide useful reagents for studying the expression of Brca1 in the mouse, and for testing the importance of the evolutionarily conserved domains.
British Medical BulletinGenetics of breast and ovarian cancer
57 Citations1994Steven A. Narod
Genetic linkage studies show that a gene from chromosome region 17q12-q21, designated BRCA1, identified in 1990 by Dr Mary-Claire King and colleagues, predisposes to both cancer of the breast and the ovary.
Human MutationApplications of heteroduplex analysis for mutation detection in disease genes
55 Citations1995Damjan Glavač, Michael Dean
Modifications and enhancements of the HA method have been developed that increase the sensitivity of detection of single‐base pair alterations.
Molecular and Cellular ProbesComparison of heteroduplex and single-strand conformation analyses, followed by ethidium fluorescence visualization,for the detection of mutations in four human genes
29 Citations1995Sandro Rossetti, Stefano Corrà +3 more
Combined use of SSCAE and HAE is a good, cheap and safe approach for mutation screening in a human gene.