Table · dataset · 2026
gene burden and single-variant test for CORGI2 and NGLR cases along with genotype report.
Listed in ZivaHub and Deakin Research Online and DMU Figshare and HKU DataHub and Swinburne Figshare and DaYta Ya Rona and SUNScholarData and figshare and Loughborough Research Repository and GRANTS Data and UP Research Data Repository — shown once because both records carry DOI 10.6084/m9.figshare.34014657.v2
<p dir="ltr">Early-Onset Colorectal Cancer (EOCRC) is colorectal cancer (CRC) diagnosed before age 50.
Description
The incidence of EOCRC is increasing in most countries. It is still rare compared to average-onset CRC, making identification of the causes challenging.
Whilst not the cause of the increase in incidence, a significant proportion (15-25%) of EOCRC cases have a known hereditary syndrome or a strong family history but no pathogenic variant.</p><p dir="ltr">To identify novel variants associated with EOCRC, I identified likely pathogenic (LP) missense (REVEL score >= 0.5) or loss-of-function variants from 115 EOCRC cases from CORGI. I identified 1149 genes with one or more qualifying variants, 10 of which also had a LP variant in an independent cohort of EOCRC cases (SCOTTY).
Read the rest (2 more)
For further validation and to enable gene burden and single-variant analysis, I sourced controls and additional EOCRC cases from the National Genomic Research Library. I identified variants in 3 genes that were enriched in EOCRC cases: PMS2, DNAH2, and FLG. PMS2 is a known CRC gene, but DNAH2 and FLG are novel.
I determined whether the PMS2 or DNAH2 variants were present in an additional 94 DNA samples from EOCRC patients from CORGI2.</p>
Links
Where it is published
- DOI doi.org/10.6084/m9.figshare.34014657.v2 ↗
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
- Astronomy & Astrophysics · Chemistry · Chemistry · Chemistry · Computer Science & AI · Computer Science & AI · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Earth & Environmental Science · Economics & Finance · Economics & Finance · Engineering · Engineering · Engineering · Engineering · Humanities · Humanities · Humanities · Humanities · Humanities · Life Sciences · Life Sciences · Life Sciences · Life Sciences · Life Sciences · Life Sciences · Life Sciences · Life Sciences · Life Sciences · Life Sciences · Life Sciences · Materials Science · Mathematics & Statistics · Mathematics & Statistics · Mathematics & Statistics · Mathematics & Statistics · Mathematics & Statistics · Mathematics & Statistics · Mathematics & Statistics · Mathematics & Statistics · Mathematics & Statistics · Mathematics & Statistics · Mathematics & Statistics · Medicine & Health · Medicine & Health · Medicine & Health · Medicine & Health · Medicine & Health · Medicine & Health · Medicine & Health · Medicine & Health · Medicine & Health · Medicine & Health · Medicine & Health · Ocean & Atmospheric Science · Psychology & Behavioral Science · Psychology & Behavioral Science · Social Science · Social Science · Social Science · Social Science · Social Science · Statistical and quantitative genetics · Statistical and quantitative genetics · Statistical and quantitative genetics · Statistical and quantitative genetics · Statistical and quantitative genetics · Statistical and quantitative genetics · Statistical and quantitative genetics · Statistical and quantitative genetics · Statistical and quantitative genetics · Statistical and quantitative genetics · Statistical and quantitative genetics
- Inferred from text
- Cancer 75%
Provenance · 11 source records, 87 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| ZivaHub | oai:figshare.com:article/34014657 | 6 d ago | JSON v1 |
| Deakin Research Online | oai:figshare.com:article/34014657 | 6 d ago | JSON v1 |
| DMU Figshare | oai:figshare.com:article/34014657 | 6 d ago | JSON v1 |
| HKU DataHub | oai:figshare.com:article/34014657 | 6 d ago | JSON v1 |
| Swinburne Figshare | oai:figshare.com:article/34014657 | 6 d ago | JSON v1 |
| DaYta Ya Rona | oai:figshare.com:article/34014657 | 6 d ago | JSON v1 |
| SUNScholarData | oai:figshare.com:article/34014657 | 6 d ago | JSON v1 |
| figshare | oai:figshare.com:article/34014657 | 5 d ago | JSON v1 |
| Loughborough Research Repository | oai:figshare.com:article/34014657 | 5 d ago | JSON v1 |
| GRANTS Data | oai:figshare.com:article/34014657 | 5 d ago | JSON v1 |
| UP Research Data Repository | oai:figshare.com:article/34014657 | 5 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:310207 | mapping · figshare dmu ac uk | vocabulary-mapper@1.0.0 | keywords['Statistical and quantitative genetics'] |
| concepts[field].anzsrc:field:310207 | mapping · dayta nwu ac za | vocabulary-mapper@1.0.0 | keywords['Statistical and quantitative genetics'] |
| concepts[field].anzsrc:field:310207 | mapping · dro deakin edu au | vocabulary-mapper@1.0.0 | keywords['Statistical and quantitative genetics'] |
| concepts[field].anzsrc:field:310207 | mapping · researchdata up ac za | vocabulary-mapper@1.0.0 | keywords['Statistical and quantitative genetics'] |
| concepts[field].anzsrc:field:310207 | mapping · grantsdata jst go jp | vocabulary-mapper@1.0.0 | keywords['Statistical and quantitative genetics'] |
| concepts[field].anzsrc:field:310207 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Statistical and quantitative genetics'] |
| concepts[field].anzsrc:field:310207 | mapping · figshare swinburne edu au | vocabulary-mapper@1.0.0 | keywords['Statistical and quantitative genetics'] |
| concepts[field].anzsrc:field:310207 | mapping · datahub hku hk | vocabulary-mapper@1.0.0 | keywords['Statistical and quantitative genetics'] |
| concepts[field].anzsrc:field:310207 | mapping · repository lboro ac uk | vocabulary-mapper@1.0.0 | keywords['Statistical and quantitative genetics'] |
| concepts[field].anzsrc:field:310207 | mapping · zivahub uct ac za | vocabulary-mapper@1.0.0 | keywords['Statistical and quantitative genetics'] |
| concepts[field].anzsrc:field:310207 | mapping · scholardata sun ac za | vocabulary-mapper@1.0.0 | keywords['Statistical and quantitative genetics'] |
| concepts[field].local:field:astronomy | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · scholardata sun ac za | connector:scholardata_sun_ac_za@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · scholardata sun ac za | connector:scholardata_sun_ac_za@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · researchdata up ac za | connector:researchdata_up_ac_za@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 · grantsdata jst go jp | connector:grantsdata_jst_go_jp@1.0.0 | |
| 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 · figshare dmu ac uk | connector:figshare_dmu_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · figshare swinburne edu au | connector:figshare_swinburne_edu_au@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · dayta nwu ac za | connector:dayta_nwu_ac_za@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:engineering | mapping · dayta nwu ac za | connector:dayta_nwu_ac_za@1.0.0 | |
| concepts[field].local:field:engineering | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:humanities | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:humanities | mapping · dayta nwu ac za | connector:dayta_nwu_ac_za@1.0.0 | |
| concepts[field].local:field:humanities | mapping · scholardata sun ac za | connector:scholardata_sun_ac_za@1.0.0 | |
| concepts[field].local:field:humanities | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:humanities | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · dayta nwu ac za | connector:dayta_nwu_ac_za@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · scholardata sun ac za | connector:scholardata_sun_ac_za@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · figshare swinburne edu au | connector:figshare_swinburne_edu_au@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · datahub hku hk | connector:datahub_hku_hk@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:life-sciences | mapping · repository lboro ac uk | connector:repository_lboro_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 · grantsdata jst go jp | connector:grantsdata_jst_go_jp@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 · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:materials-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · dro deakin edu au | connector:dro_deakin_edu_au@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · datahub hku hk | connector:datahub_hku_hk@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · figshare swinburne edu au | connector:figshare_swinburne_edu_au@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · scholardata sun ac za | connector:scholardata_sun_ac_za@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · dayta nwu ac za | connector:dayta_nwu_ac_za@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · grantsdata jst go jp | connector:grantsdata_jst_go_jp@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · figshare dmu ac uk | connector:figshare_dmu_ac_uk@1.0.0 | |
| concepts[field].local:field:mathematics-statistics | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · dayta nwu ac za | connector:dayta_nwu_ac_za@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · datahub hku hk | connector:datahub_hku_hk@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 · scholardata sun ac za | connector:scholardata_sun_ac_za@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · repository lboro ac uk | connector:repository_lboro_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 · figshare swinburne edu au | connector:figshare_swinburne_edu_au@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · grantsdata jst go jp | connector:grantsdata_jst_go_jp@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | |
| concepts[field].local:field:ocean-atmospheric | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:psychology-behavioral | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:psychology-behavioral | mapping · scholardata sun ac za | connector:scholardata_sun_ac_za@1.0.0 | |
| concepts[field].local:field:social-science | mapping · scholardata sun ac za | connector:scholardata_sun_ac_za@1.0.0 | |
| concepts[field].local:field:social-science | mapping · researchdata up ac za | connector:researchdata_up_ac_za@1.0.0 | |
| concepts[field].local:field:social-science | mapping · repository lboro ac uk | connector:repository_lboro_ac_uk@1.0.0 | |
| concepts[field].local:field:social-science | mapping · dayta nwu ac za | connector:dayta_nwu_ac_za@1.0.0 | |
| concepts[field].local:field:social-science | mapping · figshare com | connector:figshare_com@1.0.0 | |
| description | source · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | /metadata/dc/description |
| license | source · zivahub uct ac za | connector:zivahub_uct_ac_za@1.0.0 | /metadata/dc/rights |
| 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 |