Detalhe da pesquisa
1.
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees.
J Med Genet
; 61(3): 284-288, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37748860
2.
The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.
Nucleic Acids Res
; 2023 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38142462
3.
Tumor mutational burden assessment and standardized bioinformatics approach using custom NGS panels in clinical routine.
BMC Biol
; 22(1): 43, 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38378561
4.
APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
J Med Genet
; 60(5): 460-463, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270768
5.
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication.
J Med Genet
; 60(12): 1206-1209, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37263769
6.
MSH3: a confirmed predisposing gene for adenomatous polyposis.
J Med Genet
; 60(12): 1198-1205, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402566
7.
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition.
J Med Genet
; 61(1): 78-83, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541786
8.
First report of medulloblastoma in a patient with MUTYH-associated polyposis.
Neuropathol Appl Neurobiol
; 49(4): e12929, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37524406
9.
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.
Clin Genet
; 104(1): 107-113, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36974006
10.
Combined-modality treatment for locally advanced cervical cancer in a woman with Bloom-like syndrome: A case report and review of the literature.
Strahlenther Onkol
; 199(1): 102-105, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931890
11.
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.
J Med Genet
; 59(12): 1189-1195, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36038258
12.
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.
J Med Genet
; 59(4): 346-350, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33782093
13.
Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience.
J Assist Reprod Genet
; 40(6): 1381-1390, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154838
14.
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
Hum Mutat
; 43(3): 316-327, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34882875
15.
Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic.
Breast Cancer Res Treat
; 192(2): 375-383, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34994879
16.
Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.
Clin Chem
; 68(2): 322-331, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34928333
17.
Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study.
Clin Genet
; 102(1): 30-39, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35508697
18.
Boosting GWAS using biological networks: A study on susceptibility to familial breast cancer.
PLoS Comput Biol
; 17(3): e1008819, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33735170
19.
Co-occurrence of germline BRCA1 and CDH1 pathogenic variants.
J Med Genet
; 58(6): 357-361, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576655
20.
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.
Int J Cancer
; 148(8): 1895-1909, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368296