Detalhe da pesquisa
1.
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Hum Mol Genet
; 33(8): 724-732, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271184
2.
Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
Am J Hum Genet
; 109(6): 1153-1174, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35659930
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33609447
4.
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.
Breast Cancer Res
; 25(1): 72, 2023 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340476
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
6.
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.
Hum Mutat
; 42(10): 1351-1361, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273903
7.
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
Am J Hum Genet
; 102(2): 233-248, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394989
8.
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
Genet Med
; 23(2): 306-315, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087888
9.
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genet Med
; 23(9): 1726-1737, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113011
10.
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
Am J Obstet Gynecol
; 225(1): 51.e1-51.e17, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493488
11.
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
PLoS Genet
; 14(12): e1007752, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586411
12.
Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53.
Hum Mutat
; 41(3): 537-542, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898864
13.
Mutation prevalence tables for hereditary cancer derived from multigene panel testing.
Hum Mutat
; 41(8): e1-e6, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442341
14.
Considerations in assessing germline variant pathogenicity using cosegregation analysis.
Genet Med
; 22(12): 2052-2059, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773770
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31853058
16.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31406321
17.
10-year performance of four models of breast cancer risk: a validation study.
Lancet Oncol
; 20(4): 504-517, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30799262
18.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Hum Mutat
; 40(9): 1546-1556, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294896
19.
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genet Med
; 21(1): 71-80, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29884841
20.
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Genet Med
; 21(7): 1486-1496, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504929