Detalhe da pesquisa
1.
Characterization of HER2-low breast cancer in young women with germline BRCA1/2 pathogenetic variants: Results of a large international retrospective cohort study.
Cancer
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38752572
2.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Clin Chem
; 70(5): 737-746, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531023
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.
Pregnancy After Breast Cancer in Young BRCA Carriers: An International Hospital-Based Cohort Study.
JAMA
; 331(1): 49-59, 2024 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38059899
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma.
Cancers (Basel)
; 15(6)2023 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980757
14.
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
Eur J Hum Genet
; 31(2): 223-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446894
15.
Early-Stage Breast Cancer Detection in Breast Milk.
Cancer Discov
; 13(10): 2180-2191, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704212
16.
Anogenital distance and the risk of prostate cancer.
BJU Int
; 110(11 Pt B): E707-10, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22984847
17.
Development of a mouse model for spontaneous oral squamous cell carcinoma in Fanconi anemia.
Oral Oncol
; 134: 106184, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191479
18.
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
Cancer Genet
; 258-259: 10-17, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237702
19.
Clinical consequences of BRCA2 hypomorphism.
NPJ Breast Cancer
; 7(1): 117, 2021 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34504103
20.
Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.
J Mol Diagn
; 23(11): 1452-1459, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34454113