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Sökning: WFRF:(Oosterwijk Jan C.) > Kruse Torben A.

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Numrering	Referens	Omslagsbild	Hitta
1.	Rebbeck, Timothy R, et al. (författare) Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. 2015 Ingår i: JAMA: The Journal of the American Medical Association. - : American Medical Association (AMA). - 1538-3598 .- 0098-7484. ; 313:13, s. 1347-1361 Tidskriftsartikel (refereegranskat)abstract Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.
2.	Moghadasi, Setareh, et al. (författare) The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium 2018 Ingår i: Journal of Medical Genetics. - : BMJ PUBLISHING GROUP. - 0022-2593 .- 1468-6244. ; 55:1, s. 15-20 Tidskriftsartikel (refereegranskat)abstract Background: We previously showed that the BRCA1 variant c. 5096G> A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up of previously studied families, to further define cancer risks and to propose adjusted clinical management of female BRCA1* R1699Q carriers.Methods: Data were collected from 129 BRCA1* R1699Q families ascertained internationally by ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium members. A modified segregation analysis was used to calculate BC and OC risks. Relative risks were calculated under both monogenic model and major gene plus polygenic model assumptions.Results: In this cohort the cumulative risk of BC and OC by age 70 years was 20% and 6%, respectively. The relative risk for developing cancer was higher when using a model that included the effects of both the R1699Q variant and a residual polygenic component compared with monogenic model (for BC 3.67 vs 2.83, and for OC 6.41 vs 5.83).Conclusion: O ur results confirm that BRCA1* R1699Q confers an intermediate risk for BC and OC. Breast surveillance for female carriers based on mammogram annually from age 40 is advised. Bilateral salpingooophorectomy should be considered based on family history.

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Typ av publikation: tidskriftsartikel (2)

Typ av innehåll: refereegranskat (2)

Författare/redaktör: Devilee, Peter (2); Thomassen, Mads (2); Ehrencrona, Hans (2); Nevanlinna, Heli (1); Aittomäki, Kristiina (1); Cybulski, Cezary (1); visa fler...; John, Esther M (1); Teixeira, Manuel R (1); Neuhausen, Susan L (1); Benitez, Javier (1); Bonanni, Bernardo (1); Buys, Saundra S. (1); Chenevix-Trench, Geo ... (1); Collee, J. Margriet (1); Daly, Mary B. (1); Evans, D. Gareth (1); Hamann, Ute (1); Jakubowska, Anna (1); Meindl, Alfons (1); Offit, Kenneth (1); Radice, Paolo (1); Romero, Atocha (1); Terry, Mary Beth (1); Torres, Diana (1); Couch, Fergus J. (1); Simard, Jacques (1); Easton, Douglas F. (1); Borg, Åke (1); Kim, Sung Won (1); Melin, Beatrice (1); Barkardottir, Rosa B ... (1); Foretova, Lenka (1); Loman, Niklas (1); Antoniou, Antonis C. (1); Wang, Xianshu (1); McGuffog, Lesley (1); Sinilnikova, Olga M. (1); Healey, Sue (1); Peock, Susan (1); Frost, Debra (1); Eccles, Diana (1); Izatt, Louise (1); Stoppa-Lyonnet, Domi ... (1); Houdayer, Claude (1); Mazoyer, Sylvie (1); Lasset, Christine (1); Hogervorst, Frans B. ... (1); van der Luijt, Rob B ... (1); Garcia, Encarna B. G ... (1); Vreeswijk, Maaike P. ... (1); visa färre...

Lärosäte: Lunds universitet (2); Uppsala universitet (1); Karolinska Institutet (1)

Språk: Engelska (2)

Forskningsämne (UKÄ/SCB): Medicin och hälsovetenskap (2)

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