Detalhe da pesquisa
1.
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
2.
Correlation between oncological family history and clinical outcome in a large monocentric cohort of pediatric patients with rhabdomyosarcoma.
Int J Clin Oncol
; 26(8): 1561-1568, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34075482
3.
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
4.
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
5.
Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
Int J Cancer
; 145(2): 390-400, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30613976
6.
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
7.
Risk-reducing surgery in BRCA1/BRCA2 mutation carriers: Are there factors associated with the choice?
Psychooncology
; 28(9): 1871-1878, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31264307
8.
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
9.
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Genet Med
; 20(4): 452-457, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837162
10.
Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.
Cancer
; 123(2): 210-218, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27648926
11.
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
12.
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.
J Hum Genet
; 59(11): 631-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25273674
13.
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.
BMC Med Genet
; 14: 41, 2013 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23551878
14.
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
Am J Med Genet A
; 161A(11): 2909-19, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24124034
15.
Breast cancers arising in subjects with germline BRCA1 or BRCA2 mutations: Different biological and clinical entities with potentially diverse therapeutic opportunities.
Crit Rev Oncol Hematol
; 190: 104109, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37643668
16.
Prevalence of BRCA homopolymeric indels in an ION Torrent-based tumour-to-germline testing workflow in high-grade ovarian carcinoma.
Sci Rep
; 13(1): 7781, 2023 05 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37179432
17.
Molecular Tumor Board as a Clinical Tool for Converting Molecular Data Into Real-World Patient Care.
JCO Precis Oncol
; 7: e2300067, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37487147
18.
Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.
Front Oncol
; 12: 857515, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35463374
19.
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
20.
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