ArticleThe annals of applied statistics2015
USING SOMATIC MUTATION DATA TO TEST TUMORS FOR CLONAL RELATEDNESS.
Article in The annals of applied statistics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 26 citations in OpenAlex.
- Identifying Locally Recurrent Versus Second Primary Breast Cancer: Genomic Versus Clinical Criteria from Carolina Breast Cancer Study Phase III.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Trial
- Analysis of Shared Variants between Cancer Biospecimens.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Optimizing the NGS-based discrimination of multiple lung cancers from the perspective of evolution.NPJ precision oncology · 2025Article
- FOXA1 repression drives lineage plasticity and immune heterogeneity in bladder cancers with squamous differentiation.Nature communications · 2022Article
- Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.The Journal of pathology · 2022Article
- Testing tumors from different anatomic sites for clonal relatedness using somatic mutation data.Biometrics · 2021Article
- The clonal relation of primary upper urinary tract urothelial carcinoma and paired urothelial carcinoma of the bladder.International journal of cancer · 2021Article
- Clinical Characteristics and Mutation Analyses of Ovarian Sertoli-Leydig Cell Tumors.The oncologist · 2020Article
- Using somatic variant richness to mine signals from rare variants in the cancer genome.Nature communications · 2019Article
- Comprehensive Next-Generation Sequencing Unambiguously Distinguishes Separate Primary Lung Carcinomas From Intrapulmonary Metastases: Comparison with Standard Histopathologic Approach.Clinical cancer research : an official journal of the American Association for Cancer Research · 2019Article
- Testing clonal relatedness of two tumors from the same patient based on their mutational profiles: update of the Clonality R package.Bioinformatics (Oxford, England) · 2019Article
- Colorectal metastasis to the gallbladder mimicking a primary gallbladder malignancy: histopathological and molecular characteristics.Histopathology · 2019Article
- Redefining synchronous colorectal cancers based on tumor clonality.International journal of cancer · 2019Article
- Clonal Relatedness and Mutational Differences between Upper Tract and Bladder Urothelial Carcinoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2019Article
- Clonal relatedness in tumour pairs of breast cancer patients.Breast cancer research : BCR · 2018Article
- Estimating the probability of clonal relatedness of pairs of tumors in cancer patients.Biometrics · 2018Article
- Contralateral breast cancers: Independent cancers or metastases?International journal of cancer · 2018Article
- Clonal relationships between lobular carcinoma in situ and other breast malignancies.Breast cancer research : BCR · 2016Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
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: mutations at some loci are much more common than others; knowledge of the marginal mutation probabilities is scanty for most loci at which mutations might occur; the sample space of potential mutational profiles is vast. In this article we examine this problem and propose a test for clonal relatedness of a pair of tumors from a single patient. Using simulations, its properties are shown to be promising. The method is illustrated using several examples from the literature.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.