This Article Full Text Full Text (PDF) Purchase Article View Shopping Cart Services Similar articles in this journal Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Ogino, S. Search for Related Content PubMed Articles by Ogino, S.

JMD 2007, Vol. 9, No. 1
Copyright © 2007 American Society for Investigative Pathology & Association for Molecular Pathology

Special Article

Standard Mutation Nomenclature in Molecular Diagnostics

Practical and Educational Challenges

Shuji Ogino^*,, Margaret L. Gulley, Johan T. den Dunnen^¶, Robert B. Wilson^|| and the Association for Molecular Pathology Training and Education Committee

From the Department of Pathology, * Brigham and Women’s Hospital, Boston, Massachusetts; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Department of Pathology, University of North Carolina, Chapel Hill, North Carolina; Human and Clinical Genetics, ^¶ Leiden University Medical Center, Leiden, The Netherlands; and Department of Pathology and Laboratory Medicine, ^|| University of Pennsylvania Medical Center, Philadelphia, Pennsylvania

To translate basic research findings into clinical practice, it is essential that information about mutations and variations in the human genome are communicated easily and unequivocally. Unfortunately, there has been much confusion regarding the description of genetic sequence variants. This is largely because research articles that first report novel sequence variants do not often use standard nomenclature, and the final genomic sequence is compiled over many separate entries. In this article, we discuss issues crucial to clear communication, using examples of genes that are commonly assayed in clinical laboratories. Although molecular diagnostics is a dynamic field, this should not inhibit the need for and movement toward consensus nomenclature for accurate reporting among laboratories. Our aim is to alert laboratory scientists and other health care professionals to the important issues and provide a foundation for further discussions that will ultimately lead to solutions.

This article has been cited by other articles:

				J. Deladoey, N. Pfarr, J.-M. Vuissoz, J. Parma, G. Vassart, S. Biesterfeld, J. Pohlenz, and G. Van Vliet Pseudodominant Inheritance of Goitrous Congenital Hypothyroidism Caused by TPO Mutations: Molecular and in Silico Studies J. Clin. Endocrinol. Metab., February 1, 2008; 93(2): 627 - 633. [Abstract] [Full Text] [PDF]