Detalhe da pesquisa
1.
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
Hum Mutat
; 42(11): 1488-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420246
2.
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
Genet Epidemiol
; 44(5): 442-468, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32115800
3.
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
4.
Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.
Mol Psychiatry
; 25(10): 2392-2409, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30617275
5.
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
6.
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
7.
Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients.
Breast Cancer Res Treat
; 167(1): 249-256, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28913729
8.
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
9.
Exome array analysis identifies GPR35 as a novel susceptibility gene for anthracycline-induced cardiotoxicity in childhood cancer.
Pharmacogenet Genomics
; 27(12): 445-453, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28961156
10.
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
11.
More on Co-Occurrence of COMT and BRCA1/2 Variants in a Population.
N Engl J Med
; 377(8): 793-5, 2017 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28836424
12.
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
PLoS Genet
; 8(9): e1002894, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23028338
13.
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.
medRxiv
; 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496424
14.
Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations.
Genet Epidemiol
; 36(3): 274-91, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22714938
15.
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.
NPJ Breast Cancer
; 9(1): 37, 2023 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173335
16.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Commun Biol
; 5(1): 1061, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203093
17.
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
J Natl Cancer Inst
; 114(1): 109-122, 2022 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320204
18.
Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Eur J Hum Genet
; 30(3): 349-362, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027648
19.
RNF168 regulates R-loop resolution and genomic stability in BRCA1/2-deficient tumors.
J Clin Invest
; 131(3)2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33529165
20.
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Nat Commun
; 12(1): 2986, 2021 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33990587