Search details
1.
The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.
Nucleic Acids Res
; 2023 Dec 24.
Article
in English
| MEDLINE | ID: mdl-38142462
2.
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Bioinformatics
; 39(3)2023 03 01.
Article
in English
| MEDLINE | ID: mdl-36916756
3.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36436516
4.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Br J Cancer
; 128(12): 2283-2294, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37076566
5.
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
J Med Genet
; 59(1): 75-78, 2022 01.
Article
in English
| MEDLINE | ID: mdl-33219106
6.
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.
Article
in English
| MEDLINE | ID: mdl-36748747
7.
A decade of RAD51C and RAD51D germline variants in cancer.
Hum Mutat
; 43(3): 285-298, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34923718
8.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35979650
9.
CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.
Bioinformatics
; 37(22): 4227-4229, 2021 11 18.
Article
in English
| MEDLINE | ID: mdl-33983414
10.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
J Med Genet
; 58(4): 275-283, 2021 04.
Article
in English
| MEDLINE | ID: mdl-32581083
11.
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
J Med Genet
; 58(5): 305-313, 2021 05.
Article
in English
| MEDLINE | ID: mdl-32546565
12.
AhR controls redox homeostasis and shapes the tumor microenvironment in BRCA1-associated breast cancer.
Proc Natl Acad Sci U S A
; 116(9): 3604-3613, 2019 02 26.
Article
in English
| MEDLINE | ID: mdl-30733286
13.
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes.
Gut
; 70(6): 1139-1146, 2021 06.
Article
in English
| MEDLINE | ID: mdl-32998877
14.
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
Hum Mutat
; 42(11): 1488-1502, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34420246
15.
Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation.
Hum Genet
; 140(8): 1241-1252, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34059954
16.
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Clin Chem
; 67(3): 518-533, 2021 03 01.
Article
in English
| MEDLINE | ID: mdl-33280026
17.
Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
J Med Genet
; 57(6): 380-384, 2020 06.
Article
in English
| MEDLINE | ID: mdl-31784482
18.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J Med Genet
; 57(4): 269-273, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31494577
19.
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Hum Mutat
; 41(12): 2128-2142, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32906215
20.
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.
Breast Cancer Res
; 22(1): 108, 2020 10 21.
Article
in English
| MEDLINE | ID: mdl-33087180