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1.
A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.
Nucleic Acids Res
; 47(20): 10662-10677, 2019 11 18.
Article
in English
| MEDLINE | ID: mdl-31586400
2.
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.
Article
in English
| MEDLINE | ID: mdl-30472649
3.
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.
Article
in English
| MEDLINE | ID: mdl-31343793
4.
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
Hum Mutat
; 40(9): 1593-1611, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31112341
5.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Hum Mutat
; 40(9): 1546-1556, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31294896
6.
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.
Article
in English
| MEDLINE | ID: mdl-30552643
7.
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Hum Mutat
; 39(9): 1155-1160, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29969168
8.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27060066
9.
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
Int J Cancer
; 134(9): 2088-97, 2014 May 01.
Article
in English
| MEDLINE | ID: mdl-24130102
10.
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
Breast Cancer Res Treat
; 147(1): 133-43, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-25086635
11.
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Clin Chem
; 60(2): 341-52, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24212087
12.
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.
Cancer Res
; 83(15): 2557-2571, 2023 08 01.
Article
in English
| MEDLINE | ID: mdl-37253112
13.
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
Cancer Genet
; 258-259: 10-17, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34237702
14.
Clinical consequences of BRCA2 hypomorphism.
NPJ Breast Cancer
; 7(1): 117, 2021 Sep 09.
Article
in English
| MEDLINE | ID: mdl-34504103
15.
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Front Genet
; 9: 366, 2018.
Article
in English
| MEDLINE | ID: mdl-30233647
16.
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
J Cancer Res Clin Oncol
; 144(12): 2495-2513, 2018 Dec.
Article
in English
| MEDLINE | ID: mdl-30306255
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