Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.

doi:10.1136/jmedgenet-2020-107140

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Article

Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.

Journal of medical genetics - 1 Dec 2021

Tudini Emma, Davidson Aimee L, Dressel Uwe, Andrews Lesley, Antill Yoland, Crook Ashley, Field Michael, Gattas Michael, Harris Rebecca, Kirk Judy, Pachter Nicholas, Salmon Lucinda, Susman Rachel, Townshend Sharron, Trainer Alison H, Tucker Katherine M, Mitchell Gillian, James Paul A, Ward Robyn L, Mar Fan Helen, Poplawski Nicola K, Spurdle Amanda B

Abstract excerpt

BACKGROUND: The strength of evidence supporting the validity of gene-disease relationships is variable. Hereditary cancer has the additional complexity of low or moderate penetrance for some confirmed disease-associated alleles. METHODS: To promote national consistency in interpretation of hereditary cancer/tumour gene test results, we requested opinions of representatives from Australian Family Cancer Clinics...

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Identifiers

PMID: 33168572
DOI: 10.1136/jmedgenet-2020-107140

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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