1997
DOI: 10.1002/(sici)1098-2264(199702)18:2<126::aid-gcc7>3.3.co;2-o
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German family study on hereditary breast and/or ovarian cancer: Germline mutation analysis of the BRCA1 gene

Abstract: Women harboring BRCA1 germline mutations carry an 85% lifetime risk of developing breast cancer and a 63% risk of ovarian cancer. In this first systematic study of familial breast and/or ovarian cancer in Germany we investigated 29 families for germline mutations in the BRCA1 gene. We identified mutations in three breast cancer families and in four breast-ovarian cancer families. The mutations include one missense mutation, one frameshift mutation, one splice mutation, and four nonsense mutations cosegregating… Show more

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Cited by 8 publications
(14 citation statements)
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“…SSCP and PTT analysis was performed as previously described [16,17]. DHPLC analysis was performed using the WAVE system (Transgenomics, Omaha, NE, USA).…”
Section: Mutation Screeningmentioning
confidence: 99%
“…SSCP and PTT analysis was performed as previously described [16,17]. DHPLC analysis was performed using the WAVE system (Transgenomics, Omaha, NE, USA).…”
Section: Mutation Screeningmentioning
confidence: 99%
“…16 There are to date no comprehensive studies in the German population where most studies have been limited to the analysis of BRCA1 or to relatively small series. [17][18][19][20] In 1996, the Deutsche Krebshilfe supported the formation of a research collaboration, the "German Consortium for Hereditary Breast and Ovarian Cancer," to establish a national network for the management and treatment of women with a familial predisposition to breast and ovarian cancer. This long-term project is multifaceted and includes the collection of genetic, gynecological and psychological data regarding BRCA1 and BRCA2 testing.…”
mentioning
confidence: 99%
“…Probands from families harbouring BRCA2 germline mutations (n=7) were significantly younger than probands from BRCA1/2 negative families (n=58) with a median age at diagnosis of breast cancer of 36 years and 44.5 years, respectively (Wilcoxon rank sum test, p=0.03). There was no difference in the age of breast cancer diagnosis of probands of BRCA1 families (n=13), median age of 37 years, [17][18][19] from probands of BRCA2 families (Wilcoxon rank sum test, p=0.98).…”
Section: Brca2 Germline Mutationsmentioning
confidence: 93%
“…Sixty-one of these families have been described previously. 17 18 20 Seven additional breast cancer families that fit the ascertainment criteria were also screened for BRCA1 mutations and found not to harbour any changes in this gene (U Hamann, unpublished data). BRCA1 mutation detection was performed using single strand conformational polymorphism analysis (SSCP) for all small coding exons, and the protein truncation test (PTT) for exon 11, followed by DNA sequencing analysis of all unusual conformers or prematurely truncated proteins.…”
Section: Familiesmentioning
confidence: 99%
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