Data · dataset · 2026
Functional characterisation of the 5p15.33 pancreatic cancer risk locus
Listed in ZivaHub and Deakin Research Online and DMU Figshare — shown once because both records carry DOI 10.17034/32639973.v1
Genome-wide association studies (GWAS) have identified common alleles at 5p15.33 associated with increased risk of pancreatic ductal adenocarcinoma (PDAC).
Description
These associations likely involve allele-specific changes in the cis-regulation of TERT and CLPTM1L. However, the exact mechanisms remain unclear.
To address this, I integrated statistical fine mapping of GWAS data with massively parallel reporter assays (MPRA) and a CRISPRi screen across PDAC cell lines. My approach identified several variants with potential allele-specific transcriptional activity. An intronic variable number tandem repeat (VNTR) in CLPTM1L was highlighted as a strong transcriptional enhancer.
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Using PacBio sequencing, I genotyped VNTR alleles in European ancestry samples and imputed subsequent genotypes into a large PDAC GWAS, confirming that longer VNTRs are associated with increased risk. Dual luciferase assays indicated that Hippo pathway transcription factors mediate this enhancer activity.<br><br><i>Thesis embargoed until 31 December 2026.</i>
Links
Where it is published
- DOI doi.org/10.17034/32639973.v1 ↗
DOI / persistent id · from zivahub uct ac za
Catalogue records · 1
- OAI-PMH record api.figshare.com/v2/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Af… ↗
metadata API · from zivahub uct ac za
Topics
- From keywords
- Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Life Sciences · Life Sciences · Life Sciences · Medicine & Health · Medicine & Health · Medicine & Health
- Inferred from text
- Cancer 75% · Cancer genetics 75% · Sequencing 75%
Provenance · 3 source records, 17 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| ZivaHub | oai:figshare.com:article/32639973 | 10 d ago | JSON v1 |
| Deakin Research Online | oai:figshare.com:article/32639973 | 10 d ago | JSON v1 |
| DMU Figshare | oai:figshare.com:article/32639973 | 10 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| concepts[disease].local:disease:cancer | enrichment · zivahub uct ac za | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].anzsrc:field:321103 | enrichment · zivahub uct ac za | taxonomy-embedding@1.1.0 | title+keywords+description (75%) |
| concepts[field].local:field:earth-environmental | mapping · dro deakin edu au | connector:dro_deakin_edu_au@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · figshare dmu ac uk | connector:figshare_dmu_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · dro deakin edu au | connector:dro_deakin_edu_au@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · figshare dmu ac uk | connector:figshare_dmu_ac_uk@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · figshare dmu ac uk | connector:figshare_dmu_ac_uk@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · dro deakin edu au | connector:dro_deakin_edu_au@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| concepts[modality].local:modality:sequencing | enrichment · zivahub uct ac za | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | /metadata/dc/description |
| license_text | source · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| publication_date | source · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| title | source · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | /metadata/dc/title |