Clinical Pathology - Research Publications

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Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study

Mahmoodi, M; Tu, N-D; Hammet, F; Pope, BJ; Park, DJ; Southey, MC; Darlow, JM; Bruinsma, F; Winship, I (SPRINGER, 2017-07-01)

An apparently balanced t(2;3)(q37.3;q13.2) translocation that appears to segregate with renal cell carcinoma (RCC) has indicated potential areas to search for the elusive genetic basis of clear cell RCC. We applied Hi-Plex ...

Expression of CD133 and CD44 in glioblastoma stem cells correlates with cell proliferation, phenotype stability and intra-tumor heterogeneity

Brown, DV; Filiz, G; Daniel, PM; Hollande, F; Dworkin, S; Amiridis, S; Kountouri, N; Ng, W; Morokoff, AP; Mantamadiotis, T (PUBLIC LIBRARY SCIENCE, 2017-02-27)

Glioblastoma (GBM) is a heterogeneous tumor of the brain with a poor prognosis due to recurrence and drug resistance following therapy. Genome-wide profiling has revealed the existence of distinct GBM molecular subtypes ...

Repurposing ARBs as treatments for breast cancer

George, AJ; Allen, A; Chand, AL (IMPACT JOURNALS LLC, 2017-05-01)

The challenges of using a copper fluorescent sensor (CS1) to track intracellular distributions of copper in neuronal and glial cells

Price, KA; Hickey, JL; Xiao, Z; Wedd, AG; James, SA; Liddell, JR; Crouch, PJ; White, AR; Donnelly, PS (ROYAL SOC CHEMISTRY, 2012-01-01)

Confirmation of the reduction of hormone replacement therapy-related breast cancer risk for carriers of the HSD17B1_937_G variant

Obazee, O; Justenhoven, C; Winter, S; Chang-Claude, J; Rudolph, A; Seibold, P; Flesch-Janys, D; Hannelius, U; Li, J; Humphreys, K; ... (SPRINGER, 2013-04-01)

17β-hydroxysteroid dehydrogenase type 1 (HSD17B1) plays an important role in the biosynthesis of 17β-estradiol. The current study aimed at confirming the reduced risk of breast cancer in carriers of the non-synonymous ...

Epigenome-wide methylation in DNA from peripheral blood as a marker of risk for breast cancer

Severi, G; Southey, MC; English, DR; Jung, C-H; Lonie, A; McLean, C; Tsimiklis, H; Hopper, JL; Giles, GG; Baglietto, L (SPRINGER, 2014-12-01)

Aberrant DNA methylation is a key feature of breast carcinoma. We aimed to test the association between breast cancer risk and epigenome-wide methylation in DNA from peripheral blood. Nested case-control study within the ...

Twin birth changes DNA methylation of subsequent siblings

Li, S; Kim, E; Wong, EM; Joo, J-HE; Nguyen, TL; Stone, J; Song, Y-M; Flander, LB; Saffery, R; Giles, GG; ... (NATURE PUBLISHING GROUP, 2017-08-16)

We asked if twin birth influences the DNA methylation of subsequent siblings. We measured whole blood methylation using the HumanMethylation450 array for siblings from two twin and family studies in Australia and Korea. ...

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine

Myszka, A; Tu, N-D; Karpinski, P; Sasiadek, MM; Akopyan, H; Hammet, F; Tsimiklis, H; Park, DJ; Pope, BJ; Slezak, R; ... (SPRINGER, 2018-07-01)

Loss-of-function germline mutations in the PALB2 gene are associated with an increase of breast cancer risk. The purpose of this study was to characterise the spectrum of PALB2 mutations in women affected with breast or ...

A prospective study of peripheral blood DNA methylation at RPTOR, MGRN1 and RAPSN and risk of breast cancer

Dugue, P-A; Milne, RL; Southey, MC (SPRINGER, 2017-01-01)

Analysis of the breast cancer methylome using formalin-fixed paraffin-embedded tumour

Wong, EM; Joo, JE; McLean, CA; Baglietto, L; English, DR; Severi, G; Wu, H-C; Terry, MB; Hopper, JL; Milne, RL; ... (SPRINGER, 2016-11-01)

PURPOSE: Aberrant DNA methylation occurs frequently in breast carcinogenesis. Tools for translational epigenetic studies of breast cancer involving formalin-fixed paraffin-embedded (FFPE) human tissues have now been ...

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