ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Adenomatous Polyposis Coli Gene Polyposis-Related Syndromes.The American journal of gastroenterology · 2026Review
- First report of MUTYH-associated polyposis with c.1353_1355del and c.452A>G mutations in Tolima Grande region from Colombia: a case report.Frontiers in oncology · 2026Article
- Genotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis.Digestive diseases and sciences · 2023Review
- Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.Cancer medicine · 2023Article
- High frequency of WNT-activated medulloblastomas withFrontiers in oncology · 2023Article
- Clinical features and long-term outcomes of patients with colonic oligopolyposis of unknown etiology.World journal of gastroenterology · 2022Article
- Anatomic location of colorectal cancer presents a new paradigm for its prognosis in African American patients.PloS one · 2022Article
- Characterizing germline APC and MUTYH variants in Ashkenazi Jews compared to other individuals.Familial cancer · 2021Article
- Clinical Implication of Concordant or Discordant Genomic Profiling between Primary and Matched Metastatic Tissues in Patients with Colorectal Cancer.Cancer research and treatment · 2020Article
- Racial Disparities in the Molecular Landscape of Cancer.Anticancer research · 2018Article
- Colorectal Cancer Disparity in African Americans: Risk Factors and Carcinogenic Mechanisms.The American journal of pathology · 2018Review
- Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.Oncotarget · 2017Article
- Identification a nonsense mutation ofExperimental and therapeutic medicine · 2017Article
- Genomic landscape of colorectal cancer in Japan: clinical implications of comprehensive genomic sequencing for precision medicine.Genome medicine · 2016Article
- Racial Disparities in Colorectal Carcinoma Incidence, Severity and Survival Times Over 10 Years: A Retrospective Single Center Study.Journal of clinical medicine research · 2016Article
- Colorectal cancer demographics in Barbados.Medicine internationalReview
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeThe aim of this study was to assess whether differences in frequency and phenotype of APC and MUTYH mutations exist among racially/ethnically diverse populations.
methodsWe studied 6,169 individuals with a personal and/or family history of colorectal cancer (CRC) and polyps. APC testing involved full sequencing/large rearrangement analysis (FS/LRA); MUTYH involved "panel testing" (for Y165C, G382D mutations) or FS/LRA performed by Myriad Genetics, a commercial laboratory. Subjects were identified as Caucasian, Asian, African American (AA), or other. Statistical tests included χ(2), Fisher's exact test, analysis of variance, and z approximation.
resultsAmong participants, 17.5% had pathogenic APC mutations and 4.8% were biallelic MUTYH carriers. With regard to race/ethnicity, 18% were non-Caucasian, with >100 adenomas and younger ages at adenoma or CRC diagnosis (P < 0.0001) than Caucasians. The overall APC mutation rate was higher in Asians, AAs, and others as compared with Caucasians (25.2, 30.9, 24, and 15.5%, respectively; P < 0.0001) but was similar in all groups when adjusted for polyp burden. More MUTYH biallelic carriers were Caucasian or other than Asian or AA (5, 7, 2.7, and 0.3%, respectively; P < 0.0001). Among Caucasians, 5% were biallelic carriers identified by panel testing versus 2% identified by sequencing/large rearrangement analysis (LRA) (P = 0.002). Among non-Caucasians, 3% undergoing panel testing were biallelic carriers versus 10% identified by sequencing/LRA (P < 0.0002).
conclusionNon-Caucasians undergo genetic testing at more advanced stages of polyposis and/or are younger at CRC/polyp diagnosis. Restricted MUTYH analysis may miss significant numbers of biallelic carriers, particularly in non-Caucasians.
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