Detalhe da pesquisa
1.
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
J Med Genet
; 60(4): 327-336, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137616
2.
Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy.
Am J Obstet Gynecol
; 228(4): 440.e1-440.e20, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403862
3.
Long-term effects of premenopausal risk-reducing salpingo-oophorectomy on cognition in women with high familial risk of ovarian cancer: A cross-sectional study.
BJOG
; 130(8): 968-977, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36715559
4.
Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas.
Clin Gastroenterol Hepatol
; 20(3): e496-e507, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33887476
5.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(1): 119-129, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906479
6.
Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study.
Clin Genet
; 102(1): 30-39, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35508697
7.
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.
J Med Genet
; 58(11): 760-766, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32994281
8.
Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.
Int J Cancer
; 147(10): 2708-2716, 2020 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32383162
9.
Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Genet Med
; 22(8): 1427-1428, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576986
10.
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Genet Med
; 22(8): 1355-1365, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32398771
11.
Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families.
J Med Genet
; 56(9): 581-589, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186341
12.
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Int J Cancer
; 144(10): 2453-2464, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414346
13.
Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 177(3): 723-733, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31302855
14.
The functional impact of variants of uncertain significance in BRCA2.
Genet Med
; 21(2): 293-302, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29988080
15.
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Genet Med
; 21(7): 1486-1496, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504929
16.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Genet Med
; 21(12): 2706-2712, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204389
17.
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe.
J Med Genet
; 55(10): 661-668, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29661971
18.
Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making.
J Genet Couns
; 28(3): 533-542, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30629779
19.
APC mosaicism, not always isolated: two first-degree relatives with apparently distinct APC mosaicism.
Gut
; 72(11): 2186-2187, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307181
20.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008870