Detalhe da pesquisa
1.
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2.
J Med Genet
; 60(5): 440-449, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319079
2.
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Br J Cancer
; 126(9): 1339-1345, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35184155
3.
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Clin Endocrinol (Oxf)
; 96(4): 499-512, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34558728
4.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Am J Hum Genet
; 103(1): 3-18, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909963
5.
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genet Med
; 23(9): 1726-1737, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113011
6.
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
Am J Obstet Gynecol
; 225(1): 51.e1-51.e17, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493488
7.
Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications.
Lab Invest
; 100(1): 135-146, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273287
8.
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 22(1): 8, 2020 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31948486
9.
Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 22(1): 25, 2020 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32102695
10.
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Genet Med
; 22(10): 1653-1666, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32665703
11.
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
Br J Cancer
; 121(2): 180-192, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213659
12.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Nature
; 493(7432): 406-10, 2013 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23242139
13.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29386252
14.
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Hum Mutat
; 39(5): 593-620, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29446198
15.
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
Genet Med
; 20(12): 1575-1582, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565421
16.
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Breast Cancer Res Treat
; 161(1): 117-134, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27796716
17.
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
JAMA
; 317(23): 2402-2416, 2017 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28632866
18.
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
Hum Mutat
; 35(4): 434-41, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24307375
19.
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
Breast Cancer Res
; 16(6): 3419, 2014 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25857409
20.
Gene-gene interactions in breast cancer susceptibility.
Hum Mol Genet
; 21(4): 958-62, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072393