BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population. / Nielsen, Henriette Roed; Nilbert, Mef; Petersen, Janne; Ladelund, Steen; Thomassen, Mads; Pedersen, Inge Søkilde; Hansen, Thomas V O; Skytte, Anne-Bine; Borg, Åke; Therkildsen, Christina.

I: Familial Cancer, Vol. 15, Nr. 4, 2016, s. 507-512.

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Harvard

Nielsen, HR, Nilbert, M, Petersen, J, Ladelund, S, Thomassen, M, Pedersen, IS, Hansen, TVO, Skytte, A-B, Borg, Å & Therkildsen, C 2016, 'BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.', Familial Cancer, vol. 15, nr. 4, s. 507-512. https://doi.org/10.1007/s10689-016-9875-7

APA

Nielsen, H. R., Nilbert, M., Petersen, J., Ladelund, S., Thomassen, M., Pedersen, I. S., Hansen, T. V. O., Skytte, A-B., Borg, Å., & Therkildsen, C. (2016). BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population. Familial Cancer, 15(4), 507-512. https://doi.org/10.1007/s10689-016-9875-7

CBE

Nielsen HR, Nilbert M, Petersen J, Ladelund S, Thomassen M, Pedersen IS, Hansen TVO, Skytte A-B, Borg Å, Therkildsen C. 2016. BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population. Familial Cancer. 15(4):507-512. https://doi.org/10.1007/s10689-016-9875-7

MLA

Vancouver

Author

Nielsen, Henriette Roed ; Nilbert, Mef ; Petersen, Janne ; Ladelund, Steen ; Thomassen, Mads ; Pedersen, Inge Søkilde ; Hansen, Thomas V O ; Skytte, Anne-Bine ; Borg, Åke ; Therkildsen, Christina. / BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population. I: Familial Cancer. 2016 ; Vol. 15, Nr. 4. s. 507-512.

RIS

TY - JOUR

T1 - BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.

AU - Nielsen, Henriette Roed

AU - Nilbert, Mef

AU - Petersen, Janne

AU - Ladelund, Steen

AU - Thomassen, Mads

AU - Pedersen, Inge Søkilde

AU - Hansen, Thomas V O

AU - Skytte, Anne-Bine

AU - Borg, Åke

AU - Therkildsen, Christina

PY - 2016

Y1 - 2016

N2 - 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.

AB - 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.

U2 - 10.1007/s10689-016-9875-7

DO - 10.1007/s10689-016-9875-7

M3 - Article

C2 - 26833046

VL - 15

SP - 507

EP - 512

JO - Familial Cancer

JF - Familial Cancer

SN - 1389-9600

IS - 4

ER -