Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombination

Human Mutation
Melissa A BrownEllen Solomon

Abstract

Inherited susceptibility to breast cancer results from germline mutations in one of a number of genes including BRCA1. A significant number of BRCA1-linked familial breast cancer patients, however, have no detectable BRCA1 mutation. This could be due in part to the inability of commonly used mutation-detection techniques to identify mutations outside the BRCA1 coding region. This paper addresses the hypothesis that non-coding region mutations, specifically in the BRCA1 promoter, account for some of these cases. We describe a new and detailed restriction map of the 5' region of the BRCA1 gene including the nearby NBR2, psiBRCA1, and NBR1 genes and the isolation of a number of new informative hybridization probes suitable for Southern analysis. Using this information we screened DNA from lymphoblastoid cell-lines made from 114 UK familial breast cancer patients and detected one large deletion in the 5' region of BRCA1. We show that the breakpoints for this deletion are in BRCA1 intron 2 and between NBR2 and exon 2 of psiBRCA1, raising the possibility that this deletion arose via a novel mechanism involving BRCA1:psiBRCA1 recombination. We have also screened 60 familial breast cancer patients from the Australian population, using ...Continue Reading

References

May 9, 1995·Proceedings of the National Academy of Sciences of the United States of America·M A BrownE Solomon
Jun 8, 1999·Journal of the National Cancer Institute·J PetoM R Stratton
Mar 21, 2001·Human Molecular Genetics·P L Welcsh, M C King
Apr 17, 2001·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·A M MartinK L Nathanson

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Citations

Nov 7, 2009·Breast Cancer Research and Treatment·Jesús del ValleConxi Lázaro
Dec 7, 2007·Breast Cancer Research and Treatment·Sarai Palanca SuelaUNKNOWN Group for Assessment of Hereditary Cancer of Valencia Community
May 2, 2009·Genetic Testing and Molecular Biomarkers·Ans M W van den OuwelandPetra M Nederlof
Jul 4, 2012·Human Mutation·Gaël A MillotUNKNOWN ENIGMA Consortium Functional Assay Working Group
Jun 14, 2005·Familial Cancer·Barbara KremeyerAnnika Lindblom
Sep 24, 2004·Human Molecular Genetics·Adam PavlicekVladimir Larionov
Apr 18, 2019·Cancer Research·Dan LiRoy A Jensen
Dec 2, 2010·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Jie ShenHua Zhao

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