دورية أكاديمية
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk
| العنوان: | Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk |
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| المؤلفون: | Valle, Laura, Katz, Lior H., Latchford, Andrew, Mur, Pilar, Moreno, Victor, Frayling, Ian M., Heald, Brandie, Capellá, Gabriel |
| بيانات النشر: | BMJ Publishing Group |
| سنة النشر: | 2023 |
| المجموعة: | Cardiff University: ORCA (Online Research @ Cardiff) |
| الوصف: | While constitutional pathogenic variants in the APC gene cause familial adenomatous polyposis, APC c.3920T>A; p.Ile1307Lys (I1307K) has been associated with a moderate increased risk of colorectal cancer (CRC), particularly in individuals of Ashkenazi Jewish descent. However, published data include relatively small sample sizes, generating inconclusive results regarding cancer risk, particularly in non-Ashkenazi populations. This has led to different country/continental-specific guidelines regarding genetic testing, clinical management and surveillance recommendations for I1307K. A multidisciplinary international expert group endorsed by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), has generated a position statement on the APC I1307K allele and its association with cancer predisposition. Based on a systematic review and meta-analysis of the evidence published, the aim of this document is to summarise the prevalence of the APC I1307K allele and analysed the evidence of the associated cancer risk in different populations. Here we provide recommendations on the laboratory classification of the variant, define the role of predictive testing for I1307K, suggest recommendations for cancer screening in I1307K heterozygous and homozygous individuals and identify knowledge gaps to be addressed in future research studies. Briefly, I1307K, classified as pathogenic, low penetrance, is a risk factor for CRC in individuals of Ashkenazi Jewish origin and should be tested in this population, offering carriers specific clinical surveillance. There is not enough evidence to support an increased risk of cancer in other populations/subpopulations. Therefore, until/unless future evidence indicates otherwise, individuals of non-Ashkenazi Jewish descent harbouring I1307K should be enrolled in national CRC screening programmes for average-risk individuals. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | https://orca.cardiff.ac.uk/id/eprint/159432/1/jmg-2022-108984.pdfTest; Valle, Laura, Katz, Lior H., Latchford, Andrew, Mur, Pilar, Moreno, Victor, Frayling, Ian M. https://orca.cardiff.ac.uk/view/cardiffauthors/A378259U.htmlTest, Heald, Brandie and Capellá, Gabriel 2023. Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk. Journal of Medical Genetics 60 , pp. 1035-1043. 10.1136/jmg-2022-108984 https://doi.org/10.1136/jmg-2022-108984Test file https://orca.cardiff.ac.uk/id/eprint/159432/1/jmg-2022-108984.pdfTest |
| DOI: | 10.1136/jmg-2022-108984 |
| الإتاحة: | https://doi.org/10.1136/jmg-2022-108984Test https://orca.cardiff.ac.uk/id/eprint/159432Test/ https://orca.cardiff.ac.uk/id/eprint/159432/1/jmg-2022-108984.pdfTest |
| رقم الانضمام: | edsbas.C3AE94E3 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1136/jmg-2022-108984 |
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