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Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: c.3920T>A p.(Ile1307Lys) as an exemplar.

作者信息

McVeigh Terri Patricia, Lalloo Fiona, Frayling Ian M, Latchford Andrew, Snape Katie, Durkie Miranda, Monahan Kevin J, Hanson Helen

机构信息

Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, UK

The Institute of Cancer Research, London, UK.

出版信息

J Med Genet. 2024 Jul 19;61(8):810-812. doi: 10.1136/jmg-2024-109900.

DOI:10.1136/jmg-2024-109900
PMID:38697781
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11287630/
Abstract
摘要

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[1]
Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: c.3920T>A p.(Ile1307Lys) as an exemplar.

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[2]
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引用本文的文献

[1]
A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants.

Fam Cancer. 2025-4-16

[2]
Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease.

Fam Cancer. 2025-4-7

本文引用的文献

[1]
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

Genet Med. 2024-2

[2]
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on I1307K and cancer risk.

J Med Genet. 2023-11

[3]
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

N Engl J Med. 2021-2-4

[4]
Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.

Clin Gastroenterol Hepatol. 2020-8

[5]
Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG).

Gut. 2019-11-28

[6]
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.

Nat Genet. 2019-11

[7]
The new genomic medicine service and implications for patients .

Clin Med (Lond). 2019-7

[8]
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.

J Med Genet. 2019-4-8

[9]
Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes.

Gut. 2002-9

[10]
Number needed to screen: development of a statistic for disease screening.

BMJ. 1998-8-1

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