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1.
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
Am J Hum Genet
; 108(3): 458-468, 2021 03 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33609447
2.
A Population-Based Study of Genes Previously Implicated in Breast Cancer.
N Engl J Med
; 384(5): 440-451, 2021 02 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33471974
3.
Initial interactions with the FDA on developing a validation dataset as a medical device development tool.
J Pathol
; 261(4): 378-384, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37794720
4.
Spatial analyses of immune cell infiltration in cancer: current methods and future directions: A report of the International Immuno-Oncology Biomarker Working Group on Breast Cancer.
J Pathol
; 260(5): 514-532, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37608771
5.
Pitfalls in machine learning-based assessment of tumor-infiltrating lymphocytes in breast cancer: A report of the International Immuno-Oncology Biomarker Working Group on Breast Cancer
J Pathol
; 260(5): 498-513, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37608772
6.
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
Hum Mutat
; 42(3): 290-299, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33326660
7.
Mutation prevalence tables for hereditary cancer derived from multigene panel testing.
Hum Mutat
; 41(8): e1-e6, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32442341
8.
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genet Med
; 22(4): 701-708, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31853058
9.
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
Genet Med
; 22(2): 407-415, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31406321
10.
Pathologist Opinions about EPIC Beaker AP: a Multi-Institutional Survey of Early Adopters.
J Med Syst
; 44(6): 111, 2020 May 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32377870
11.
Recommendations for performance optimizations when using GATK3.8 and GATK4.
BMC Bioinformatics
; 20(1): 557, 2019 Nov 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31703611
12.
Correction to: Recommendations for performance optimizations when using GATK3.8 and GATK4.
BMC Bioinformatics
; 20(1): 722, 2019 12 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-31847808
13.
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Am J Hum Genet
; 98(5): 801-817, 2016 May 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-27153395
14.
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genet Med
; 21(1): 71-80, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29884841
15.
Cancer susceptibility gene mutations in type I and II endometrial cancer.
Gynecol Oncol
; 152(1): 20-25, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30612635
16.
VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files.
Brief Bioinform
; 17(2): 346-51, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26210358
17.
Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes.
Brief Bioinform
; 17(4): 672-7, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-26358132
18.
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
JAMA
; 319(23): 2401-2409, 2018 06 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-29922827
19.
Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.
Gynecol Oncol
; 147(2): 375-380, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28888541
20.
TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer.
Nucleic Acids Res
; 43(14): 6945-58, 2015 Aug 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-25916844