Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori.

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dc.citation.issue1
dc.citation.volume18
dc.contributor.authorHakkaart C
dc.contributor.authorEllison-Loschmann L
dc.contributor.authorDay R
dc.contributor.authorSporle A
dc.contributor.authorKoea J
dc.contributor.authorHarawira P
dc.contributor.authorCheng S
dc.contributor.authorGray M
dc.contributor.authorWhaanga T
dc.contributor.authorPearce N
dc.contributor.authorGuilford P
dc.coverage.spatialNetherlands
dc.date.accessioned2024-09-23T20:28:53Z
dc.date.available2024-09-23T20:28:53Z
dc.date.issued2018-03-27
dc.description.abstractNew Zealand Māori have a considerably higher incidence of gastric cancer compared to non-Māori, and are one of the few populations worldwide with a higher prevalence of diffuse-type disease. Pathogenic germline CDH1 mutations are causative of hereditary diffuse gastric cancer, a cancer predisposition syndrome primarily characterised by an extreme lifetime risk of developing diffuse gastric cancer. Pathogenic CDH1 mutations are well described in Māori families in New Zealand. However, the contribution of these mutations to the high incidence of gastric cancer is unknown. We have used next-generation sequencing, Sanger sequencing, and Multiplex Ligation-dependent Probe Amplification to examine germline CDH1 in an unselected series of 94 Māori gastric cancer patients and 200 healthy matched controls. Overall, 18% of all cases, 34% of cases diagnosed with diffuse-type gastric cancer, and 67% of cases diagnosed aged less than 45 years carried pathogenic CDH1 mutations. After adjusting for the effect of screening known HDGC families, we estimate that 6% of all advanced gastric cancers and 13% of all advanced diffuse-type gastric cancers would carry germline CDH1 mutations. Our results demonstrate that germline CDH1 mutations are a significant contributor to the high frequency of diffuse gastric cancer in New Zealand Māori.
dc.description.confidentialfalse
dc.edition.editionJanuary 2019
dc.format.pagination83-90
dc.identifier.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/29589180
dc.identifier.citationHakkaart C, Ellison-Loschmann L, Day R, Sporle A, Koea J, Harawira P, Cheng S, Gray M, Whaanga T, Pearce N, Guilford P. (2019). Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori.. Fam Cancer. 18. 1. (pp. 83-90).
dc.identifier.doi10.1007/s10689-018-0080-8
dc.identifier.eissn1573-7292
dc.identifier.elements-typejournal-article
dc.identifier.issn1389-9600
dc.identifier.pii10.1007/s10689-018-0080-8
dc.identifier.urihttps://mro.massey.ac.nz/handle/10179/71499
dc.languageeng
dc.publisherSpringer Nature
dc.publisher.urihttps://link.springer.com/article/10.1007/s10689-018-0080-8
dc.relation.isPartOfFam Cancer
dc.rights(c) The author/sen
dc.rights.licenseCC BYen
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectCDH1
dc.subjectE-cadherin
dc.subjectGenetic predisposition testing
dc.subjectHereditary diffuse gastric cancer
dc.subjectMāori
dc.subjectNew Zealand
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAge of Onset
dc.subjectAged
dc.subjectAged, 80 and over
dc.subjectAntigens, CD
dc.subjectCadherins
dc.subjectDNA Mutational Analysis
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectGenetic Testing
dc.subjectGerm-Line Mutation
dc.subjectHigh-Throughput Nucleotide Sequencing
dc.subjectHumans
dc.subjectIncidence
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectNew Zealand
dc.subjectStomach Neoplasms
dc.subjectYoung Adult
dc.titleGermline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori.
dc.typeJournal article
pubs.elements-id405809
pubs.organisational-groupCollege of Health
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