George J Burghel
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Explore the profile of George J Burghel including associated specialties, affiliations and a list of published articles.
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60
Citations
539
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Recent Articles
21.
Morgan R, Clamp A, White D, Price M, Burghel G, Ryder W, et al.
Clin Cancer Res
. 2023 Feb;
29(14):2602-2611.
PMID: 36799931
Purpose: A single maintenance course of a PARP inhibitor (PARPi) improves progression-free survival (PFS) in germline BRCA1/2-mutant high-grade serous ovarian cancer (gBRCAm-HGSOC). The feasibility of a second maintenance course of...
22.
Morgan R, Burghel G, Flaum N, Bulman M, Smith P, Clamp A, et al.
Cancers (Basel)
. 2023 Feb;
15(3).
PMID: 36765687
Women diagnosed with non-mucinous high-grade epithelial ovarian cancer (EOC) in England are often reflex-tested for germline and tumour / variants. The value of germline testing in women diagnosed aged ≥80...
23.
Evans D, Burghel G, Smith M
J Med Genet
. 2023 Jan;
60(9):838-841.
PMID: 36599646
NF2-related schwannomatosis is an autosomal dominant tumour predisposition condition that causes multiple benign tumours of the nervous system, especially schwannomas. This results from germline pathogenic variants in the gene, which...
24.
Loong L, Huntley C, McRonald F, Santaniello F, Pethick J, Torr B, et al.
J Med Genet
. 2022 Dec;
60(7):669-678.
PMID: 36572524
Objective: To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by...
25.
Evans D, Sithambaram S, van Veen E, Burghel G, Schlecht H, Harkness E, et al.
J Med Genet
. 2022 Nov;
60(8):740-746.
PMID: 36442995
Purpose: To investigate frequency of germline pathogenic variants (PVs) in women with ductal carcinoma in situ (DCIS) and grade 1 invasive breast cancer (G1BC). Methods: We undertook analysis in 311 ...
26.
Mattison K, Tossing G, Mulroe F, Simmons C, Butler K, Schreiber A, et al.
Brain
. 2022 Sep;
146(4):1357-1372.
PMID: 36074901
The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking...
27.
Morgan R, Burghel G, Flaum N, Bulman M, Smith P, Clamp A, et al.
J Clin Pathol
. 2022 Jun;
76(10):684-689.
PMID: 35738887
Aims: Clinical guidelines recommend testing both germline and tumour DNA for pathogenic variants (PVs) in non-mucinous high-grade epithelial ovarian cancer (NMEOC). In this study, we show that some tumour PVs...
28.
Loong L, Garrett A, Allen S, Choi S, Durkie M, Callaway A, et al.
Genet Med
. 2022 Jun;
24(9):1867-1877.
PMID: 35657381
Purpose: Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items. For variant classifications above the actionability...
29.
Rack S, Feeney L, Hapuarachi B, Adderley H, Woodhouse L, Betts G, et al.
Cancers (Basel)
. 2022 Mar;
14(5).
PMID: 35267442
For most patients with salivary gland cancer, there are no effective standard systemic therapies. Although clinical trials of biomarker-led drug therapies have delivered significant recent advances, there remains a need...
30.
Morgan R, Burghel G, Flaum N, Bulman M, Smith P, Clamp A, et al.
Br J Cancer
. 2022 Mar;
127(1):163-167.
PMID: 35260807
National guidelines recommend testing all cases of non-mucinous epithelial ovarian cancer (NMEOC) for germline (blood) and somatic (tumour) BRCA1/2 pathogenic variants (PVs). We performed paired germline and somatic BRCA1/2 testing...