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BRCA1/BRCA2 founder...
BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.
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- Nielsen, Henriette Roed (författare)
- Vejle Hospital
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- Nilbert, Mef (författare)
- Copenhagen University Hospital
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- Petersen, Janne (författare)
- Copenhagen University Hospital
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- Ladelund, Steen (författare)
- Copenhagen University Hospital
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Thomassen, Mads (författare)
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Pedersen, Inge Søkilde (författare)
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Hansen, Thomas V O (författare)
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Skytte, Anne-Bine (författare)
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- Borg, Åke (författare)
- 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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Therkildsen, Christina (författare)
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(creator_code:org_t)
- 2016-02-01
- 2016
- Engelska.
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Ingår i: Familial Cancer. - : Springer Science and Business Media LLC. - 1389-9600 .- 1573-7292. ; 15:4, s. 507-512
- Relaterad länk:
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http://www.ncbi.nlm....
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Mutations in the BRCA1 and BRCA2 genes significantly contribute to hereditary breast cancer and ovarian cancer, but the phenotypic effect from different mutations is insufficiently recognized. We used a western Danish clinic-based cohort of 299 BRCA families to study the female cancer risk in mutation carriers and their untested first-degree relatives. Founder mutations were characterized and the risk of cancer was assessed in relation to the specific mutations. In BRCA1, the cumulative cancer risk at age 70 was 35 % for breast cancer and 29 % for ovarian cancer. In BRCA2, the cumulative risk was 44 % for breast cancer and 15 % for ovarian cancer. We identified 47 distinct BRCA1 mutations and 48 distinct mutations in BRCA2. Among these, 8 founder mutations [BRCA1 c.81-?_4986+?del, c.3319G>T (p.Glu1107*), c.3874delT and c.5213G>A (p.Gly1738Glu) and BRCA2 c.6373delA, c.7008-1G>A, c.7617+1G>A and c.8474delC] were found to account for 23 % of the BRCA1 mutations and for 32 % of the BRCA2 mutations. The BRCA1 mutation c.3319G>T was, compared to other BRCA1 mutations, associated with a higher risk for ovarian cancer. In conclusion, founder mutations in BRCA1 and BRCA2 contribute to up to one-third of the families in western Denmark and among these the BRCA1 c.3319G>T mutation is potentially linked to an increased risk of ovarian cancer.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
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Till lärosätets databas
- Av författaren/redakt...
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Nielsen, Henriet ...
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Nilbert, Mef
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Petersen, Janne
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Ladelund, Steen
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Thomassen, Mads
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Pedersen, Inge S ...
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visa fler...
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Hansen, Thomas V ...
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Skytte, Anne-Bin ...
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Borg, Åke
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Therkildsen, Chr ...
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Cancer och onkol ...
- Artiklar i publikationen
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Familial Cancer
- Av lärosätet
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Lunds universitet