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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32665703
2.
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Hum Mutat
; 40(12): 2230-2238, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31433103
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30623411
4.
Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 177(3): 723-733, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31302855
5.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J Med Genet
; 55(1): 15-20, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28490613
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30204945
7.
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Hum Mutat
; 39(5): 593-620, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29446198
8.
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Hum Mutat
; 38(2): 226-235, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27767231
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27796716
10.
STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.
Br J Dermatol
; 187(5): 820-822, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35822528
11.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27060066
12.
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.
Int J Mol Sci
; 18(2)2017 Jan 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-28146134
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-24569164
14.
Growth pattern in Kabuki syndrome with a KMT2D mutation.
Am J Med Genet A
; 170(12): 3172-3179, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27530205
15.
BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
J Med Genet
; 52(4): 224-30, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25643705
16.
Genome sequencing as a generic diagnostic strategy for rare disease.
Genome Med
; 16(1): 32, 2024 Feb 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-38355605
17.
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.
medRxiv
; 2024 Mar 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38496424
18.
A randomised controlled phase II trial of pre-operative celecoxib treatment reveals anti-tumour transcriptional response in primary breast cancer.
Breast Cancer Res
; 15(2): R29, 2013 Apr 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-23566419
19.
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.
Fam Cancer
; 22(1): 103-118, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35856126
20.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Clin Cancer Res
; 29(16): 3037-3050, 2023 08 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-37449874