Stacey Stauffer
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Explore the profile of Stacey Stauffer including associated specialties, affiliations and a list of published articles.
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28
Citations
585
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Recent Articles
1.
Stauffer S, Roth J, Hernandez E, Kowalczyk J, Sealover N, Hebron K, et al.
Cancers (Basel)
. 2024 Jul;
16(13).
PMID: 39001383
Activating mutations in the RAS/MAPK pathway are observed in relapsed neuroblastoma. Preclinical studies indicate that these tumors have an increased sensitivity to inhibitors of the RAS/MAPK pathway, such as MEK...
2.
Biswas K, Mitrophanov A, Sahu S, Sullivan T, Southon E, Nousome D, et al.
Cell Rep Methods
. 2023 Nov;
3(11):100628.
PMID: 37922907
Sequencing of genes, such as BRCA1 and BRCA2, is recommended for individuals with a personal or family history of early onset and/or bilateral breast and/or ovarian cancer or a history...
3.
Hebron K, Wan X, Roth J, Liewehr D, Sealover N, Frye W, et al.
Clin Cancer Res
. 2022 Nov;
29(2):472-487.
PMID: 36322002
Purpose: PAX-fusion negative rhabdomyosarcoma (FN RMS) is driven by alterations in the RAS/MAP kinase pathway and is partially responsive to MEK inhibition. Overexpression of IGF1R and its ligands is also...
4.
Xia B, Biswas K, Foo T, Gomes T, Riedel-Topper M, Southon E, et al.
Hum Mutat
. 2022 Jun;
43(10):1396-1407.
PMID: 35762214
Chordoma is a rare bone tumor with genetic risk factors largely unknown. We conducted a whole-exome sequencing (WES) analysis of germline DNA from 19 familial chordoma cases in five pedigrees...
5.
Biswas K, Couillard M, Cavallone L, Burkett S, Stauffer S, Martin B, et al.
Cell Death Dis
. 2021 Sep;
12(9):838.
PMID: 34489406
Hereditary non-polyposis colorectal cancer, now known as Lynch syndrome (LS) is one of the most common cancer predisposition syndromes and is caused by germline pathogenic variants (GPVs) in DNA mismatch...
6.
Pathak P, Blech-Hermoni Y, Subedi K, Mpamugo J, Obeng-Nyarko C, Ohman R, et al.
Commun Biol
. 2021 Mar;
4(1):355.
PMID: 33742095
Mechanical stress induced by contractions constantly threatens the integrity of muscle Z-disc, a crucial force-bearing structure in striated muscle. The PDZ-LIM proteins have been proposed to function as adaptors in...
7.
Sullivan T, Thirthagiri E, Chong C, Stauffer S, Reid S, Southon E, et al.
Hum Mutat
. 2020 Dec;
42(2):200-212.
PMID: 33314489
The discovery of high-risk breast cancer susceptibility genes, such as Breast cancer associated gene 1 (BRCA1) and Breast cancer associated gene 2 (BRCA2) has led to accurate identification of individuals...
8.
Biswas K, Lipton G, Stauffer S, Sullivan T, Cleveland L, Southon E, et al.
NPJ Genom Med
. 2020 Dec;
5(1):52.
PMID: 33293522
Sequencing-based genetic tests to identify individuals at increased risk of hereditary breast and ovarian cancers have resulted in the identification of more than 40,000 sequence variants of BRCA1 and BRCA2....
9.
Stauffer S, Biswas K, Sharan S
J Hum Genet
. 2020 May;
65(9):805-809.
PMID: 32393813
A pathogenic mutation in BRCA2 significantly increases the risk of breast and ovarian cancers making it imperative to examine the functional consequences of variants of uncertain clinical significance. Variants that...
10.
Sirisena N, Biswas K, Sullivan T, Stauffer S, Cleveland L, Southon E, et al.
Breast Cancer Res
. 2020 May;
22(1):43.
PMID: 32393398
Next-generation sequencing of Sri Lankan families with inherited cancer syndromes resulted in the identification of five BRCA2 variants of unknown clinical significance. Interpreting such variants poses significant challenges for both...