Abstract 2180: Somatic mutation landscape in early-onset colorectal cancer tumors from hispanics

Background: In the last 40 years, the incidence of colorectal cancer (CRC) among individuals 140% by 2030. Early-onset CRC represents a clinically distinct form of CRC often associated with a poor prognosis. During 2012-2017, more than 11% of the CRC cases in the US and more than 9% of the total CRC...

Full description

Saved in:
Bibliographic Details
Published in:Cancer research (Chicago, Ill.) Ill.), 2021-07, Vol.81 (13_Supplement), p.2180-2180
Main Authors: Gonzalez-Pons, Maria, Montes-Rodriguez, Ingrid, Carrasquillo-Carrion, Kelvin, Roche-Lima, Abiel, Singhal, Sandeep, Napoles, Anna M., Byun, Jung S., Perez-Stable, Eliseo, Gardner, Kevin, Cruz-Correa, Marcia
Format: Article
Language:English
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites
container_end_page 2180
container_issue 13_Supplement
container_start_page 2180
container_title Cancer research (Chicago, Ill.)
container_volume 81
creator Gonzalez-Pons, Maria
Montes-Rodriguez, Ingrid
Carrasquillo-Carrion, Kelvin
Roche-Lima, Abiel
Singhal, Sandeep
Napoles, Anna M.
Byun, Jung S.
Perez-Stable, Eliseo
Gardner, Kevin
Cruz-Correa, Marcia
description Background: In the last 40 years, the incidence of colorectal cancer (CRC) among individuals 140% by 2030. Early-onset CRC represents a clinically distinct form of CRC often associated with a poor prognosis. During 2012-2017, more than 11% of the CRC cases in the US and more than 9% of the total CRC cases in Puerto Rico corresponded to patients
doi_str_mv 10.1158/1538-7445.AM2021-2180
format article
fullrecord <record><control><sourceid>crossref</sourceid><recordid>TN_cdi_crossref_primary_10_1158_1538_7445_AM2021_2180</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>10_1158_1538_7445_AM2021_2180</sourcerecordid><originalsourceid>FETCH-crossref_primary_10_1158_1538_7445_AM2021_21803</originalsourceid><addsrcrecordid>eNqdj81KAzEUhUNRcGx9BOG-QGoyndChuyKKG1e6j7dpBiP5Ge5NF317GxQfwNXhHPjgO0Lca7XW2owP2mxGuR0Gs96_9qrXstejWojub78SnVJqlGbY9jfilvnrUo1WphMf-wNXQlehQTt4KwlrcJBO9ZIlQ8R8ZIezh5DBI8WzLJl9BVdiIe8qRnCYnSeop1SIYaKS4DPwjDk4XonrCSP7u99cCvP89P74Ih0VZvKTnSkkpLPVyrY7tmnbpm1_7thmtvkv9w2EilSL</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Abstract 2180: Somatic mutation landscape in early-onset colorectal cancer tumors from hispanics</title><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><creator>Gonzalez-Pons, Maria ; Montes-Rodriguez, Ingrid ; Carrasquillo-Carrion, Kelvin ; Roche-Lima, Abiel ; Singhal, Sandeep ; Napoles, Anna M. ; Byun, Jung S. ; Perez-Stable, Eliseo ; Gardner, Kevin ; Cruz-Correa, Marcia</creator><creatorcontrib>Gonzalez-Pons, Maria ; Montes-Rodriguez, Ingrid ; Carrasquillo-Carrion, Kelvin ; Roche-Lima, Abiel ; Singhal, Sandeep ; Napoles, Anna M. ; Byun, Jung S. ; Perez-Stable, Eliseo ; Gardner, Kevin ; Cruz-Correa, Marcia</creatorcontrib><description>Background: In the last 40 years, the incidence of colorectal cancer (CRC) among individuals &lt;50 years (early-onset CRC) has been increasing at an alarming rate in the US, and is expected to increase by &gt;140% by 2030. Early-onset CRC represents a clinically distinct form of CRC often associated with a poor prognosis. During 2012-2017, more than 11% of the CRC cases in the US and more than 9% of the total CRC cases in Puerto Rico corresponded to patients &lt;50 years old. This highlights the imperative need to describe the genetic drivers of early-onset CRC in Hispanics in order to increase early diagnosis, improve personalized clinical management, and improve survival outcomes. The objective of this study was to characterize the somatic mutation profile of early-onset tumors from Puerto Ricans, a Hispanic subpopulation with a high CRC burden, in order to better understand early-onset CRC biology. Methods: Whole exome sequencing analyses were performed using the HiSeq4000 System (Illumina) on concordant colorectal adenocarcinoma and colonic mucosa tissue samples from 58 individuals diagnosed with colorectal cancer at &lt;50 years old (early-onset CRC) and 25 individuals diagnosed with CRC &gt;60 years old (late-onset CRC). Somatic variant calling and annotation/visualization were performed using Strelka and Ingenuity Variant Analysis software, respectively. All participants were recruited by Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). Results: Early-onset and late-onset CRC tumors showed distinct mutational profiles, only sharing TTN and MUC19 among their top 10 most mutated genes. The most frequently mutated genes in early-onset CRC tumors were: TTN (79%), MUC19 (75%), SYNE1 (68%), PCDHGA1 (68%), LPR1B (67%), PCDHGA2 (67%), PCDHGA3 (65%), PCDHGB1 (%), MUC16 (65%) and PCDHGA4 (65%). In late-onset CRC, the top ten most frequently mutated genes were: CSMD1 (68%), APC (68%), SYNE1 (64%), TTN (60%), MUC19 (60%), MUC16 (60%), PCDHA1 (60%), PCDHB1 (%), PCDHG1 (60%) and PCDHG2 (60%). Conclusion: This study presents the somatic mutation profile of early-onset colorectal tumors from Puerto Ricans, a Hispanic subgroup with noted CRC health disparities. Somatic mutational profiles were found to be distinct when comparing early-onset and late-onset colorectal tumors. The majority of the somatic mutations detected in the early-onset CRC tumors were in non-coding regions, suggesting that epigenetic regulation may contribute to early-onset colorectal carcinogenesis. Citation Format: Maria Gonzalez-Pons, Ingrid Montes-Rodriguez, Kelvin Carrasquillo-Carrion, Abiel Roche-Lima, Sandeep Singhal, Anna M. Napoles, Jung S. Byun, Eliseo Perez-Stable, Kevin Gardner, Marcia Cruz-Correa. Somatic mutation landscape in early-onset colorectal cancer tumors from hispanics [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2021; 2021 Apr 10-15 and May 17-21. Philadelphia (PA): AACR; Cancer Res 2021;81(13_Suppl):Abstract nr 2180.</description><identifier>ISSN: 0008-5472</identifier><identifier>EISSN: 1538-7445</identifier><identifier>DOI: 10.1158/1538-7445.AM2021-2180</identifier><language>eng</language><ispartof>Cancer research (Chicago, Ill.), 2021-07, Vol.81 (13_Supplement), p.2180-2180</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids></links><search><creatorcontrib>Gonzalez-Pons, Maria</creatorcontrib><creatorcontrib>Montes-Rodriguez, Ingrid</creatorcontrib><creatorcontrib>Carrasquillo-Carrion, Kelvin</creatorcontrib><creatorcontrib>Roche-Lima, Abiel</creatorcontrib><creatorcontrib>Singhal, Sandeep</creatorcontrib><creatorcontrib>Napoles, Anna M.</creatorcontrib><creatorcontrib>Byun, Jung S.</creatorcontrib><creatorcontrib>Perez-Stable, Eliseo</creatorcontrib><creatorcontrib>Gardner, Kevin</creatorcontrib><creatorcontrib>Cruz-Correa, Marcia</creatorcontrib><title>Abstract 2180: Somatic mutation landscape in early-onset colorectal cancer tumors from hispanics</title><title>Cancer research (Chicago, Ill.)</title><description>Background: In the last 40 years, the incidence of colorectal cancer (CRC) among individuals &lt;50 years (early-onset CRC) has been increasing at an alarming rate in the US, and is expected to increase by &gt;140% by 2030. Early-onset CRC represents a clinically distinct form of CRC often associated with a poor prognosis. During 2012-2017, more than 11% of the CRC cases in the US and more than 9% of the total CRC cases in Puerto Rico corresponded to patients &lt;50 years old. This highlights the imperative need to describe the genetic drivers of early-onset CRC in Hispanics in order to increase early diagnosis, improve personalized clinical management, and improve survival outcomes. The objective of this study was to characterize the somatic mutation profile of early-onset tumors from Puerto Ricans, a Hispanic subpopulation with a high CRC burden, in order to better understand early-onset CRC biology. Methods: Whole exome sequencing analyses were performed using the HiSeq4000 System (Illumina) on concordant colorectal adenocarcinoma and colonic mucosa tissue samples from 58 individuals diagnosed with colorectal cancer at &lt;50 years old (early-onset CRC) and 25 individuals diagnosed with CRC &gt;60 years old (late-onset CRC). Somatic variant calling and annotation/visualization were performed using Strelka and Ingenuity Variant Analysis software, respectively. All participants were recruited by Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). Results: Early-onset and late-onset CRC tumors showed distinct mutational profiles, only sharing TTN and MUC19 among their top 10 most mutated genes. The most frequently mutated genes in early-onset CRC tumors were: TTN (79%), MUC19 (75%), SYNE1 (68%), PCDHGA1 (68%), LPR1B (67%), PCDHGA2 (67%), PCDHGA3 (65%), PCDHGB1 (%), MUC16 (65%) and PCDHGA4 (65%). In late-onset CRC, the top ten most frequently mutated genes were: CSMD1 (68%), APC (68%), SYNE1 (64%), TTN (60%), MUC19 (60%), MUC16 (60%), PCDHA1 (60%), PCDHB1 (%), PCDHG1 (60%) and PCDHG2 (60%). Conclusion: This study presents the somatic mutation profile of early-onset colorectal tumors from Puerto Ricans, a Hispanic subgroup with noted CRC health disparities. Somatic mutational profiles were found to be distinct when comparing early-onset and late-onset colorectal tumors. The majority of the somatic mutations detected in the early-onset CRC tumors were in non-coding regions, suggesting that epigenetic regulation may contribute to early-onset colorectal carcinogenesis. Citation Format: Maria Gonzalez-Pons, Ingrid Montes-Rodriguez, Kelvin Carrasquillo-Carrion, Abiel Roche-Lima, Sandeep Singhal, Anna M. Napoles, Jung S. Byun, Eliseo Perez-Stable, Kevin Gardner, Marcia Cruz-Correa. Somatic mutation landscape in early-onset colorectal cancer tumors from hispanics [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2021; 2021 Apr 10-15 and May 17-21. Philadelphia (PA): AACR; Cancer Res 2021;81(13_Suppl):Abstract nr 2180.</description><issn>0008-5472</issn><issn>1538-7445</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNqdj81KAzEUhUNRcGx9BOG-QGoyndChuyKKG1e6j7dpBiP5Ge5NF317GxQfwNXhHPjgO0Lca7XW2owP2mxGuR0Gs96_9qrXstejWojub78SnVJqlGbY9jfilvnrUo1WphMf-wNXQlehQTt4KwlrcJBO9ZIlQ8R8ZIezh5DBI8WzLJl9BVdiIe8qRnCYnSeop1SIYaKS4DPwjDk4XonrCSP7u99cCvP89P74Ih0VZvKTnSkkpLPVyrY7tmnbpm1_7thmtvkv9w2EilSL</recordid><startdate>20210701</startdate><enddate>20210701</enddate><creator>Gonzalez-Pons, Maria</creator><creator>Montes-Rodriguez, Ingrid</creator><creator>Carrasquillo-Carrion, Kelvin</creator><creator>Roche-Lima, Abiel</creator><creator>Singhal, Sandeep</creator><creator>Napoles, Anna M.</creator><creator>Byun, Jung S.</creator><creator>Perez-Stable, Eliseo</creator><creator>Gardner, Kevin</creator><creator>Cruz-Correa, Marcia</creator><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>20210701</creationdate><title>Abstract 2180: Somatic mutation landscape in early-onset colorectal cancer tumors from hispanics</title><author>Gonzalez-Pons, Maria ; Montes-Rodriguez, Ingrid ; Carrasquillo-Carrion, Kelvin ; Roche-Lima, Abiel ; Singhal, Sandeep ; Napoles, Anna M. ; Byun, Jung S. ; Perez-Stable, Eliseo ; Gardner, Kevin ; Cruz-Correa, Marcia</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-crossref_primary_10_1158_1538_7445_AM2021_21803</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gonzalez-Pons, Maria</creatorcontrib><creatorcontrib>Montes-Rodriguez, Ingrid</creatorcontrib><creatorcontrib>Carrasquillo-Carrion, Kelvin</creatorcontrib><creatorcontrib>Roche-Lima, Abiel</creatorcontrib><creatorcontrib>Singhal, Sandeep</creatorcontrib><creatorcontrib>Napoles, Anna M.</creatorcontrib><creatorcontrib>Byun, Jung S.</creatorcontrib><creatorcontrib>Perez-Stable, Eliseo</creatorcontrib><creatorcontrib>Gardner, Kevin</creatorcontrib><creatorcontrib>Cruz-Correa, Marcia</creatorcontrib><collection>CrossRef</collection><jtitle>Cancer research (Chicago, Ill.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gonzalez-Pons, Maria</au><au>Montes-Rodriguez, Ingrid</au><au>Carrasquillo-Carrion, Kelvin</au><au>Roche-Lima, Abiel</au><au>Singhal, Sandeep</au><au>Napoles, Anna M.</au><au>Byun, Jung S.</au><au>Perez-Stable, Eliseo</au><au>Gardner, Kevin</au><au>Cruz-Correa, Marcia</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Abstract 2180: Somatic mutation landscape in early-onset colorectal cancer tumors from hispanics</atitle><jtitle>Cancer research (Chicago, Ill.)</jtitle><date>2021-07-01</date><risdate>2021</risdate><volume>81</volume><issue>13_Supplement</issue><spage>2180</spage><epage>2180</epage><pages>2180-2180</pages><issn>0008-5472</issn><eissn>1538-7445</eissn><abstract>Background: In the last 40 years, the incidence of colorectal cancer (CRC) among individuals &lt;50 years (early-onset CRC) has been increasing at an alarming rate in the US, and is expected to increase by &gt;140% by 2030. Early-onset CRC represents a clinically distinct form of CRC often associated with a poor prognosis. During 2012-2017, more than 11% of the CRC cases in the US and more than 9% of the total CRC cases in Puerto Rico corresponded to patients &lt;50 years old. This highlights the imperative need to describe the genetic drivers of early-onset CRC in Hispanics in order to increase early diagnosis, improve personalized clinical management, and improve survival outcomes. The objective of this study was to characterize the somatic mutation profile of early-onset tumors from Puerto Ricans, a Hispanic subpopulation with a high CRC burden, in order to better understand early-onset CRC biology. Methods: Whole exome sequencing analyses were performed using the HiSeq4000 System (Illumina) on concordant colorectal adenocarcinoma and colonic mucosa tissue samples from 58 individuals diagnosed with colorectal cancer at &lt;50 years old (early-onset CRC) and 25 individuals diagnosed with CRC &gt;60 years old (late-onset CRC). Somatic variant calling and annotation/visualization were performed using Strelka and Ingenuity Variant Analysis software, respectively. All participants were recruited by Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). Results: Early-onset and late-onset CRC tumors showed distinct mutational profiles, only sharing TTN and MUC19 among their top 10 most mutated genes. The most frequently mutated genes in early-onset CRC tumors were: TTN (79%), MUC19 (75%), SYNE1 (68%), PCDHGA1 (68%), LPR1B (67%), PCDHGA2 (67%), PCDHGA3 (65%), PCDHGB1 (%), MUC16 (65%) and PCDHGA4 (65%). In late-onset CRC, the top ten most frequently mutated genes were: CSMD1 (68%), APC (68%), SYNE1 (64%), TTN (60%), MUC19 (60%), MUC16 (60%), PCDHA1 (60%), PCDHB1 (%), PCDHG1 (60%) and PCDHG2 (60%). Conclusion: This study presents the somatic mutation profile of early-onset colorectal tumors from Puerto Ricans, a Hispanic subgroup with noted CRC health disparities. Somatic mutational profiles were found to be distinct when comparing early-onset and late-onset colorectal tumors. The majority of the somatic mutations detected in the early-onset CRC tumors were in non-coding regions, suggesting that epigenetic regulation may contribute to early-onset colorectal carcinogenesis. Citation Format: Maria Gonzalez-Pons, Ingrid Montes-Rodriguez, Kelvin Carrasquillo-Carrion, Abiel Roche-Lima, Sandeep Singhal, Anna M. Napoles, Jung S. Byun, Eliseo Perez-Stable, Kevin Gardner, Marcia Cruz-Correa. Somatic mutation landscape in early-onset colorectal cancer tumors from hispanics [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2021; 2021 Apr 10-15 and May 17-21. Philadelphia (PA): AACR; Cancer Res 2021;81(13_Suppl):Abstract nr 2180.</abstract><doi>10.1158/1538-7445.AM2021-2180</doi></addata></record>
fulltext fulltext
identifier ISSN: 0008-5472
ispartof Cancer research (Chicago, Ill.), 2021-07, Vol.81 (13_Supplement), p.2180-2180
issn 0008-5472
1538-7445
language eng
recordid cdi_crossref_primary_10_1158_1538_7445_AM2021_2180
source Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
title Abstract 2180: Somatic mutation landscape in early-onset colorectal cancer tumors from hispanics
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-26T14%3A39%3A18IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-crossref&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Abstract%202180:%20Somatic%20mutation%20landscape%20in%20early-onset%20colorectal%20cancer%20tumors%20from%20hispanics&rft.jtitle=Cancer%20research%20(Chicago,%20Ill.)&rft.au=Gonzalez-Pons,%20Maria&rft.date=2021-07-01&rft.volume=81&rft.issue=13_Supplement&rft.spage=2180&rft.epage=2180&rft.pages=2180-2180&rft.issn=0008-5472&rft.eissn=1538-7445&rft_id=info:doi/10.1158/1538-7445.AM2021-2180&rft_dat=%3Ccrossref%3E10_1158_1538_7445_AM2021_2180%3C/crossref%3E%3Cgrp_id%3Ecdi_FETCH-crossref_primary_10_1158_1538_7445_AM2021_21803%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_id=info:pmid/&rfr_iscdi=true