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An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk

OBJECTIVE: This study was designed to determine if CEACAM mutations are associated with inherited risk of colorectal cancer. Recently, protein-truncating mutations in the CEACAM gene family were associated with inherited breast cancer risk. That discovery, along with aberrant expression of CEACAM ge...

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Autores principales: Huskey, Anna L. W., Merner, Nancy D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8815132/
https://www.ncbi.nlm.nih.gov/pubmed/35115044
http://dx.doi.org/10.1186/s13104-022-05907-6
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author Huskey, Anna L. W.
Merner, Nancy D.
author_facet Huskey, Anna L. W.
Merner, Nancy D.
author_sort Huskey, Anna L. W.
collection PubMed
description OBJECTIVE: This study was designed to determine if CEACAM mutations are associated with inherited risk of colorectal cancer. Recently, protein-truncating mutations in the CEACAM gene family were associated with inherited breast cancer risk. That discovery, along with aberrant expression of CEACAM genes in colorectal cancer tumors and that colorectal cancer and breast cancer share many risk factors, including genetics, inspired our team to search for inherited CEACAM mutations in colorectal cancer cases. Specifically utilizing The Cancer Genome Atlas (TCGA) blood-derived whole-exome sequencing data from the colorectal cancer cohort, rare protein-truncating variants and missense variants were investigated through single variant and aggregation analyses in European American and African American cases and compared to ethnic-matched controls. RESULTS: A total of 34 and 14 different CEACAM variants were identified in European American and African American colorectal cancer cases, respectively. Nine missense variants were individually associated with risk, two in African Americans and seven in European Americans. No identified protein-truncating variants were associated with CRC risk in either ethnicity. Gene family and gene-specific aggregation analyses did not yield any significant results. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13104-022-05907-6.
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spelling pubmed-88151322022-02-07 An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk Huskey, Anna L. W. Merner, Nancy D. BMC Res Notes Research Note OBJECTIVE: This study was designed to determine if CEACAM mutations are associated with inherited risk of colorectal cancer. Recently, protein-truncating mutations in the CEACAM gene family were associated with inherited breast cancer risk. That discovery, along with aberrant expression of CEACAM genes in colorectal cancer tumors and that colorectal cancer and breast cancer share many risk factors, including genetics, inspired our team to search for inherited CEACAM mutations in colorectal cancer cases. Specifically utilizing The Cancer Genome Atlas (TCGA) blood-derived whole-exome sequencing data from the colorectal cancer cohort, rare protein-truncating variants and missense variants were investigated through single variant and aggregation analyses in European American and African American cases and compared to ethnic-matched controls. RESULTS: A total of 34 and 14 different CEACAM variants were identified in European American and African American colorectal cancer cases, respectively. Nine missense variants were individually associated with risk, two in African Americans and seven in European Americans. No identified protein-truncating variants were associated with CRC risk in either ethnicity. Gene family and gene-specific aggregation analyses did not yield any significant results. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13104-022-05907-6. BioMed Central 2022-02-03 /pmc/articles/PMC8815132/ /pubmed/35115044 http://dx.doi.org/10.1186/s13104-022-05907-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research Note
Huskey, Anna L. W.
Merner, Nancy D.
An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk
title An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk
title_full An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk
title_fullStr An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk
title_full_unstemmed An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk
title_short An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk
title_sort investigation into the role of inherited ceacam gene family variants and colorectal cancer risk
topic Research Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8815132/
https://www.ncbi.nlm.nih.gov/pubmed/35115044
http://dx.doi.org/10.1186/s13104-022-05907-6
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