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.
CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources.
J Med Genet
; 60(12): 1215-1217, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37536919
3.
Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception.
Breast Cancer Res Treat
; 200(1): 63-72, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36856935
4.
Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort.
Genet Med
; 25(11): 100937, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37466057
5.
Germline Genetic Testing After Cancer Diagnosis.
JAMA
; 330(1): 43-51, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37276540
6.
Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.
Cancer
; 128(6): 1275-1283, 2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34875721
7.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genet Med
; 24(1): 41-50, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906457
8.
Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
Hum Mutat
; 42(10): 1265-1278, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245638
9.
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
10.
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
11.
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
12.
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
Hum Mutat
; 41(9): 1555-1562, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32485079
13.
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
14.
Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.
Gynecol Oncol
; 152(3): 612-617, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612783
15.
Correction to: Pathogenic variants among females with breast cancer and a nonbreast cancer reveal opportunities for cancer interception.
Breast Cancer Res Treat
; 200(1): 73, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37178433
16.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
medRxiv
; 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609227
17.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253112
18.
Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.
J Clin Endocrinol Metab
; 107(5): e1917-e1923, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026032
19.
Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.
J Clin Oncol
; 40(35): 4083-4094, 2022 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35960913
20.
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
NPJ Genom Med
; 7(1): 35, 2022 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35665744