ورقة بحثية
توقع امكانية حدوث الأمراض للمتغيرات الجينية ل BRCA1 وBRCA2 المحددة في الفحص الجيني السريري = Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing

Brookes, Clare.


 

توقع امكانية حدوث الأمراض للمتغيرات الجينية ل BRCA1 وBRCA2 المحددة في الفحص الجيني السريري = Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing

Brookes, Clare.

Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 and BRCA2 genes. Pathogenic mutations in the BRCA1 and BRCA2 genes lead to an increased risk of developing breast, ovarian, prostate and/or pancreatic cancer. This study aimed to assess the predictive capability of in silico programmes and mutation databases in assisting diagnostic laboratories to determine the pathogenicity of sequence-detectable mutations. Methods: Between July 2011 and April 2013, an analysis was undertaken of 13 missense BRCA gene variants that had been detected in patients referred to the Genetic Health Services New Zealand (Northern Hub) for BRCA gene analysis. The analysis involved the use of 13 in silico protein prediction programmes, two in silico transcript analysis programmes and the examination of three BRCA gene databases. Results: In most of the variants, the analysis showed different in silico interpretations. This illustrates the interpretation challenges faced by diagnostic laboratories. Conclusion: Unfortunately, when using online mutation databases and carrying out in silico analyses, there is significant discordance in the classification of some missense variants in the BRCA genes. This discordance leads to complexities in interpreting and reporting these variants in a clinical context. The authors have developed a simple procedure for analysing variants; however, those of unknown significance largely remain unknown. As a consequence, the clinical value of some reports may be negligible

Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 and BRCA2 genes. Pathogenic mutations in the BRCA1 and BRCA2 genes lead to an increased risk of developing breast, ovarian, prostate and/or pancreatic cancer. This study aimed to assess the predictiv...

مادة فرعية

المؤلف : Brookes, Clare.

مؤلف مشارك : Stella Lai
Elaine Doherty
Donald R. Love

بيانات النشر : Muscat، Sultanate of Oman : Sultan Qaboos University / College of Medicine and Health Sciences، 2015مـ.

التصنيف الموضوعي : العلوم التطبيقية|العلوم الطبية .

المواضيع : Genetic Testing .

الجينات - فحص .

رقم الطبعة : 2

المصدر : Sultan Qaboos University / College of Medicine and Health Sciences : Muscat، Sulatante of Oman.

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