| Germline BRCA1 185delAG mutations in Jewish women with breast cancer. | |
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MedLine Citation:
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PMID: 8642955 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: We aimed to find out the proportion of breast cancers in Ashkenazi Jewish women attributable to the frameshift mutation at position 185 involving the deletion of adenine and guanine (185delAG) in the breast cancer gene BRCA1. METHODS: We studied 107 Ashkenazi Jewish women with breast cancer seen at medical oncology and genetic counseling clinics in New York over a three and a half year period beginning in 1992. 80 of the women were diagnosed before age 42 years; the other 27 were diagnosed between 42 and 50 years and had a positive family history. Genomic DNA testing by PCR amplification was done to identify any 185delAG mutations of the BRCA1 gene. FINDINGS: Of the 80 women diagnosed before the age of 42 years, 16 (20%, 95% CI 11.2-28.8) were heterozygous for the mutation. All 16 women had at least one first-degree or second-degree relative with breast or ovarian cancer. Of 27 probands diagnosed with breast cancer between the ages of 42 and 50 years who had at least one first-degree relative affected with breast or ovarian cancer, 8 (30%, 95% CI 12-47) had 185delAG mutations. INTERPRETATION: These data suggest that screening for the 185delAG mutation may be useful in genetic counselling of these women where options for detection and prevention of possible cancers can be discussed. |
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Authors:
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K Offit; T Gilewski; P McGuire; A Schluger; H Hampel; K Brown; J Swensen; S Neuhausen; M Skolnick; L Norton; D Goldgar |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Lancet Volume: 347 ISSN: 0140-6736 ISO Abbreviation: Lancet Publication Date: 1996 Jun |
Date Detail:
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Created Date: 1996-07-18 Completed Date: 1996-07-18 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 2985213R Medline TA: Lancet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 1643-5 Citation Subset: AIM; IM |
Affiliation:
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Clinical Genetics Service, Department of Human Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Base Sequence Breast Neoplasms / diagnosis, ethnology, genetics* DNA, Neoplasm / genetics Female Germ-Line Mutation* Humans Jews* Middle Aged Molecular Sequence Data Polymerase Chain Reaction |
| Grant Support | |
ID/Acronym/Agency:
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P20 CA 58232/CA/NCI NIH HHS; R01 CA 55914/CA/NCI NIH HHS; R01 CA 65673/CA/NCI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/DNA, Neoplasm |
| Comments/Corrections | |
Comment In:
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Lancet. 1996 Jun 15;347(9016):1638-9
[PMID:
8642950
]
Lancet. 1996 Aug 17;348(9025):477 [PMID: 8709806 ] |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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