Detalhe da pesquisa
1.
Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer.
N Engl J Med
; 384(25): 2394-2405, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34081848
2.
Clinical effectiveness and safety of olaparib in BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: final analysis of LUCY.
Breast Cancer Res Treat
; 204(2): 237-248, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112922
3.
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
4.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436516
5.
Efficacy and safety of rucaparib treatment in patients with BRCA-mutated, relapsed ovarian cancer: final results from Study 10.
Br J Cancer
; 128(2): 255-265, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36482193
6.
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(10): 100870, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37490054
7.
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
8.
Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome.
Clin Gastroenterol Hepatol
; 20(3): 611-621.e9, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157315
9.
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
10.
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1416-1423, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33976419
11.
Patients' and professionals' perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic.
Genet Med
; 23(8): 1450-1457, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824504
12.
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
13.
Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.
Am J Hematol
; 96(8): 989-999, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33984160
14.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
J Med Genet
; 57(4): 258-268, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586946
15.
Role of POLE and POLD1 in familial cancer.
Genet Med
; 22(12): 2089-2100, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792570
16.
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
17.
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
18.
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
19.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat
; 40(9): 1557-1578, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131967
20.
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
Hum Mutat
; 40(10): 1781-1796, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31112363