Detalhe da pesquisa
1.
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
J Med Genet
; 60(7): 685-691, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446584
2.
Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
J Genet Couns
; 32(4): 778-787, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748747
3.
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Clin Chem
; 67(3): 518-533, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280026
4.
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.
Breast Cancer Res
; 22(1): 108, 2020 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087180
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.
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
J Med Genet
; 56(2): 63-74, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30472649
7.
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
Hum Mutat
; 40(12): 2296-2317, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343793
8.
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
Hum Mutat
; 40(9): 1593-1611, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31112341
9.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Hum Mutat
; 40(9): 1546-1556, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294896
10.
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
Int J Cancer
; 145(10): 2682-2691, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30927264
11.
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Int J Cancer
; 145(2): 401-414, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30623411
12.
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
13.
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
Breast Cancer Res Treat
; 174(2): 543-550, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552643
14.
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Hum Mutat
; 39(9): 1155-1160, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969168
15.
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Hum Mutat
; 39(12): 2025-2039, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30204945
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.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060066
18.
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
PLoS Genet
; 10(4): e1004256, 2014 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24698998
19.
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Breast Cancer Res
; 18(1): 112, 2016 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27836010
20.
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Hum Mol Genet
; 23(14): 3666-80, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24569164