Detalhe da pesquisa
1.
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Am J Hum Genet
; 111(3): 584-593, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38417439
2.
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
3.
A Population-Based Study of Genes Previously Implicated in Breast Cancer.
N Engl J Med
; 384(5): 440-451, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33471974
4.
Cancer susceptibility gene mutations in type I and II endometrial cancer.
Gynecol Oncol
; 152(1): 20-25, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612635
5.
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
JAMA
; 319(23): 2401-2409, 2018 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29922827
6.
Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants.
bioRxiv
; 2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168194
7.
Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2.
J Clin Oncol
; 41(9): 1703-1713, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36623243
8.
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
9.
Automation of hybridization and capture based next generation sequencing library preparation requires reduction of on-deck bead binding and heated wash temperatures.
SLAS Technol
; 27(3): 214-218, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35058215
10.
Mutations in BRCA1/2 and Other Panel Genes in Patients With Metastatic Breast Cancer -Association With Patient and Disease Characteristics and Effect on Prognosis.
J Clin Oncol
; 39(15): 1619-1630, 2021 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33780288
11.
Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score.
J Clin Oncol
; 39(23): 2564-2573, 2021 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34101481
12.
Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.
J Clin Oncol
; 39(35): 3918-3926, 2021 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34672684
13.
Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.
J Clin Oncol
; 39(31): 3430-3440, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34292776
14.
Effect of Germline Mutations in Homologous Recombination Repair Genes on Overall Survival of Patients with Pancreatic Adenocarcinoma.
Clin Cancer Res
; 26(24): 6505-6512, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33028596
15.
Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
J Natl Cancer Inst
; 112(12): 1213-1221, 2020 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32427313
16.
Pathogenic Variants in Cancer Predisposition Genes and Prostate Cancer Risk in Men of African Ancestry.
JCO Precis Oncol
; 4: 32-43, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32832836
17.
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
J Clin Oncol
; 38(13): 1409-1418, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32125938
18.
Contribution of Inherited DNA-Repair Gene Mutations to Hormone-Sensitive and Castrate-Resistant Metastatic Prostate Cancer and Implications for Clinical Outcome.
JCO Precis Oncol
; 32019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32923857
19.
Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands' Susceptibility Gene Mutation Status.
J Natl Cancer Inst
; 111(3): 264-271, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982661