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Characterization of...
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
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- Borg, Åke (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups
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Haile, Robert W (author)
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Malone, Kathleen E (author)
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Capanu, Marinela (author)
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Diep, Ahn (author)
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- Törngren, Therese (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups
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Teraoka, Sharon (author)
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Begg, Colin B (author)
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Thomas, Duncan C (author)
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Concannon, Patrick (author)
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Mellemkjaer, Lene (author)
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Bernstein, Leslie (author)
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- Tellhed, Lina (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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Xue, Shanyan (author)
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Olson, Eric R (author)
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Liang, Xiaolin (author)
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Dolle, Jessica (author)
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Børresen-Dale, Anne-Lise (author)
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Bernstein, Jonine L (author)
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(creator_code:org_t)
- Hindawi Limited, 2010
- 2010
- English.
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 31, s. 1200-1240
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http://dx.doi.org/10...
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https://doi.org/10.1...
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Abstract
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- BRCA1 and BRCA2 screening in women at high-risk of breast cancer results in the identification of both unambiguously defined deleterious mutations and sequence variants of unknown clinical significance (VUS). We examined a population-based sample of young women with contralateral breast cancer (CBC, n=705) or unilateral breast cancer (UBC, n=1398). We identified 470 unique sequence variants, of which 113 were deleterious mutations. The remaining 357 VUS comprised 185 unique missense changes, 60% were observed only once, while 3% occurred with a frequency of >10%. Deleterious mutations occurred three times more often in women with CBC (15.3%) than in women with UBC (5.2%), whereas combined, VUS were observed in similar frequencies in women with CBC and UBC. A protein alignment algorithm defined 16 rare VUS, occurring at highly conserved residues and/or conferring a considerable biochemical difference, the majority located in the BRCA2 DNA-binding domain. We confirm a multiplicity of BRCA1 and BRCA2 VUS that occur at a wide range of allele frequencies. Although some VUS inflict chemical differences at conserved residues, suggesting a deleterious effect, the majority are not associated with an increased risk of CBC. (c) 2010 Wiley-Liss, Inc.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- art (subject category)
- ref (subject category)
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- By the author/editor
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Borg, Åke
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Haile, Robert W
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Malone, Kathleen ...
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Capanu, Marinela
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Diep, Ahn
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Törngren, Theres ...
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show more...
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Teraoka, Sharon
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Begg, Colin B
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Thomas, Duncan C
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Concannon, Patri ...
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Mellemkjaer, Len ...
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Bernstein, Lesli ...
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Tellhed, Lina
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Xue, Shanyan
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Olson, Eric R
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Liang, Xiaolin
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Dolle, Jessica
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Børresen-Dale, A ...
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Bernstein, Jonin ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human Mutation
- By the university
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Lund University