PMID: 9429140Jan 16, 1998Paper

BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients

Journal of Medical Genetics
A M GarvinR J Scott

Abstract

Eighty-six women fulfilling specific selection criteria were studied for germline mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, using the protein truncation test (PTT). Nine germline mutations were identified, six in BRCA1 and three in BRCA2. Of the six BRCA1 mutations, three have previously been described and three are new, and for BRCA2, one is a new mutation and the other two appear to occur at a site that has been described several times. Four kindreds were breast cancer families, one a breast/ovarian cancer family, and the sixth an ovarian cancer family. The three kindreds with BRCA2 mutations were classified as one breast/ovarian cancer family, one breast cancer family, and one family which harboured one early onset breast cancer patient and two melanoma patients. The mutations in BRCA1 were either insertions, deletions, or transitions which all resulted in a premature stop codon. Mutations in BRCA2 were all frameshift mutations as a result of either 2 or 4 bp deletions. Two BRCA2 mutations were identical, suggesting a Swiss founder effect which was confirmed by haplotype sharing. The 10% mutation detection rate is compatible with the relaxed criteria used for patient selection. Considering the rel...Continue Reading

References

Jan 18, 1996·The New England Journal of Medicine·A A LangstonE A Ostrander
Jan 18, 1996·The New England Journal of Medicine·M G FitzGeraldD A Haber
Mar 1, 1996·Nature Genetics·S V TavtigianD E Goldgar
Sep 1, 1996·Journal of Medical Genetics·A M GarvinR J Scott

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Citations

Apr 3, 2013·European Journal of Pharmacology·Berta SousaFatima Cardoso
Oct 25, 2000·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·H OzdagT Ozçelik
Jul 14, 2005·Biomedical Research·Yasunaga YoshikawaKazuyoshi Hashizume
Aug 5, 2005·The Oncologist·Sharon H Giordano

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