Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2000-1-31
pubmed:databankReference
pubmed:abstractText
We have analysed 81 families with a history of breast and/or ovarian cancer for the presence of germline mutations in BRCA2 with a number of different mutation screening techniques. The protein truncation test (PTT) for exons 10 and 11 detected four different frame-shifting mutations in six of these families. Four of the remaining 75 families had given positive linkage evidence for being due to BRCA2. In these families the entire coding region was analysed by single-strand conformational polymorphism, leading to the detection of a non-sense and a splice-site mutation in two of them. While these studies were in progress, Southern analysis of BRCA1 revealed that in our study-population of 81 families, 15 families were segregating either the exon 13 or exon 22 deletion in BRCA1 (Petrij-Bosch et al (1997) Nat Genet 17: 341-345). This prompted us to examine BRCA2 in the remaining 58 families by Southern analysis, using two different restriction enzymes. No aberrations were found in the restriction patterns. Thus, contrary to BRCA1, large genomic rearrangements within the BRCA2 gene do not represent a major mutation mechanism among Dutch breast cancer families.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-3344216, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-7663517, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-7759075, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-8640235, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-8640237, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-8673089, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-8673090, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-8673092, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-8875189, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-8938427, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-8988179, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9041180, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9150148, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9150151, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9150152, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9150172, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9150174, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9354803, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9497246, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9537232, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9585613, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9792861, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9915971, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9927062, http://linkedlifedata.com/resource/pubmed/commentcorrection/10638982-9928476
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0007-0920
pubmed:author
pubmed:issnType
Print
pubmed:volume
82
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
151-6
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed-meshheading:10638982-BRCA2 Protein, pubmed-meshheading:10638982-Blotting, Southern, pubmed-meshheading:10638982-Breast Neoplasms, pubmed-meshheading:10638982-Female, pubmed-meshheading:10638982-Frameshift Mutation, pubmed-meshheading:10638982-Genes, BRCA1, pubmed-meshheading:10638982-Genetic Markers, pubmed-meshheading:10638982-Germ-Line Mutation, pubmed-meshheading:10638982-Humans, pubmed-meshheading:10638982-Lod Score, pubmed-meshheading:10638982-Molecular Sequence Data, pubmed-meshheading:10638982-Neoplasm Proteins, pubmed-meshheading:10638982-Netherlands, pubmed-meshheading:10638982-Ovarian Neoplasms, pubmed-meshheading:10638982-Pedigree, pubmed-meshheading:10638982-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:10638982-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:10638982-Transcription Factors
pubmed:year
2000
pubmed:articleTitle
Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families.
pubmed:affiliation
Department of Human Genetics, Leiden University Medical Center, The Netherlands.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't