USING SOMATIC MUTATION DATA TO TEST TUMORS FOR CLONAL RELATEDNESS.

ABSTRACT: A major challenge for cancer pathologists is to determine whether a new tumor in a patient with cancer is a metastasis or an independent occurrence of the disease. In recent years numerous studies have evaluated pairs of tumor specimens to examine the similarity of the somatic characteristics of the tumors and to test for clonal relatedness. As the landscape of mutation testing has evolved a number of statistical methods for determining clonality have developed, notably for comparing losses of heterozygosity at candidate markers, and for comparing copy number profiles. Increasingly tumors are being evaluated for point mutations in panels of candidate genes using gene sequencing technologies. Comparison of the mutational profiles of pairs of tumors presents unusual methodological challenges

SUBMITTER: Ostrovnaya I 

PROVIDER: S-EPMC4649945 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature