Loading…
Advances in Hereditary Colorectal Cancer: Opportunities and Challenges for Clinical Translation
Purpose of Review Over the last decade, tremendous progress has been made in our understanding, clinical evaluation, and management of hereditary colorectal cancer (CRC). This review provides an overview of recent developments and highlights opportunities and future challenges for clinical translati...
Saved in:
| Published in: | Current genetic medicine reports 2020-06, Vol.8 (2), p.47-60 |
|---|---|
| Main Authors: | , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | |
|---|---|
| cites | cdi_FETCH-LOGICAL-c200t-44bc90ae741d0dd90f2aa351f7d7f9aa3b300599497616a9446b2a18ab4e037c3 |
| container_end_page | 60 |
| container_issue | 2 |
| container_start_page | 47 |
| container_title | Current genetic medicine reports |
| container_volume | 8 |
| creator | DeSouza, Bianca Georgiou, Demetra |
| description | Purpose of Review
Over the last decade, tremendous progress has been made in our understanding, clinical evaluation, and management of hereditary colorectal cancer (CRC). This review provides an overview of recent developments and highlights opportunities and future challenges for clinical translation.
Recent Findings
Novel genes have been identified associated with predisposition to CRC and polyposis including,
POLE
,
POLD1
,
NTHL1
,
MSH3
, and
RNF43
. Genetic testing has transitioned from phenotype-specific single-gene testing to multigene panels, and universal screening programmes for Lynch syndrome (LS) have been widely implemented. In addition, CRC patients with LS can now access precision medicine through the recent discovery of immune checkpoint inhibitors and risk-reducing interventions.
Summary
Our recent advances in hereditary CRC can significantly decrease cancer-related morbidity and mortality. However, several barriers to clinical translation have been reported. Further characterisation of novel and non-traditional CRC genes improved multi-disciplinary communication, and patient education is now required. |
| doi_str_mv | 10.1007/s40142-020-00183-x |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_journals_2399319741</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2399319741</sourcerecordid><originalsourceid>FETCH-LOGICAL-c200t-44bc90ae741d0dd90f2aa351f7d7f9aa3b300599497616a9446b2a18ab4e037c3</originalsourceid><addsrcrecordid>eNp9UE1LAzEQDaJgqf0DnhY8r04-utl4K4taodBLPYdsktWUNVmTrdR_b3QFPTkwzAzz3hvmIXSJ4RoD8JvEADNSAoESANe0PJ6gGcEVL1nNq9M__TlapLSHHDWpcs6QXJl35bVNhfPF2kZr3KjiR9GEPkSrR9UXzdc-3hbbYQhxPHg3ugxX3hTNi-p765_z2IVYNL3zTmfGLiqfejW64C_QWaf6ZBc_dY6e7u92zbrcbB8em9Wm1ARgLBlrtQBlOcMGjBHQEaXoEnfc8E7ktqUASyGY4BWulGCsaonCtWqZBco1naOrSXeI4e1g0yj34RB9PikJFYJikaUzikwoHUNK0XZyiO41_ysxyC8v5eSlzF7Kby_lMZPoREoZnJ-Nv9L_sD4BVad3gw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2399319741</pqid></control><display><type>article</type><title>Advances in Hereditary Colorectal Cancer: Opportunities and Challenges for Clinical Translation</title><source>Springer Nature</source><creator>DeSouza, Bianca ; Georgiou, Demetra</creator><creatorcontrib>DeSouza, Bianca ; Georgiou, Demetra</creatorcontrib><description>Purpose of Review
Over the last decade, tremendous progress has been made in our understanding, clinical evaluation, and management of hereditary colorectal cancer (CRC). This review provides an overview of recent developments and highlights opportunities and future challenges for clinical translation.
Recent Findings
Novel genes have been identified associated with predisposition to CRC and polyposis including,
POLE
,
POLD1
,
NTHL1
,
MSH3
, and
RNF43
. Genetic testing has transitioned from phenotype-specific single-gene testing to multigene panels, and universal screening programmes for Lynch syndrome (LS) have been widely implemented. In addition, CRC patients with LS can now access precision medicine through the recent discovery of immune checkpoint inhibitors and risk-reducing interventions.
Summary
Our recent advances in hereditary CRC can significantly decrease cancer-related morbidity and mortality. However, several barriers to clinical translation have been reported. Further characterisation of novel and non-traditional CRC genes improved multi-disciplinary communication, and patient education is now required.</description><identifier>ISSN: 2167-4876</identifier><identifier>EISSN: 2167-4876</identifier><identifier>DOI: 10.1007/s40142-020-00183-x</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Cancer ; Cancer Genomics (K Snape and H Hanson ; Colorectal cancer ; Colorectal carcinoma ; Genetic screening ; Immune checkpoint inhibitors ; Internal Medicine ; Medicine ; Medicine & Public Health ; Morbidity ; Phenotypes ; Polyposis ; Precision medicine ; Section Editors ; Topical Collection on Cancer Genomics ; Translation</subject><ispartof>Current genetic medicine reports, 2020-06, Vol.8 (2), p.47-60</ispartof><rights>Springer Science+Business Media, LLC, part of Springer Nature 2020</rights><rights>Springer Science+Business Media, LLC, part of Springer Nature 2020.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c200t-44bc90ae741d0dd90f2aa351f7d7f9aa3b300599497616a9446b2a18ab4e037c3</cites></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>DeSouza, Bianca</creatorcontrib><creatorcontrib>Georgiou, Demetra</creatorcontrib><title>Advances in Hereditary Colorectal Cancer: Opportunities and Challenges for Clinical Translation</title><title>Current genetic medicine reports</title><addtitle>Curr Genet Med Rep</addtitle><description>Purpose of Review
Over the last decade, tremendous progress has been made in our understanding, clinical evaluation, and management of hereditary colorectal cancer (CRC). This review provides an overview of recent developments and highlights opportunities and future challenges for clinical translation.
Recent Findings
Novel genes have been identified associated with predisposition to CRC and polyposis including,
POLE
,
POLD1
,
NTHL1
,
MSH3
, and
RNF43
. Genetic testing has transitioned from phenotype-specific single-gene testing to multigene panels, and universal screening programmes for Lynch syndrome (LS) have been widely implemented. In addition, CRC patients with LS can now access precision medicine through the recent discovery of immune checkpoint inhibitors and risk-reducing interventions.
Summary
Our recent advances in hereditary CRC can significantly decrease cancer-related morbidity and mortality. However, several barriers to clinical translation have been reported. Further characterisation of novel and non-traditional CRC genes improved multi-disciplinary communication, and patient education is now required.</description><subject>Cancer</subject><subject>Cancer Genomics (K Snape and H Hanson</subject><subject>Colorectal cancer</subject><subject>Colorectal carcinoma</subject><subject>Genetic screening</subject><subject>Immune checkpoint inhibitors</subject><subject>Internal Medicine</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Morbidity</subject><subject>Phenotypes</subject><subject>Polyposis</subject><subject>Precision medicine</subject><subject>Section Editors</subject><subject>Topical Collection on Cancer Genomics</subject><subject>Translation</subject><issn>2167-4876</issn><issn>2167-4876</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNp9UE1LAzEQDaJgqf0DnhY8r04-utl4K4taodBLPYdsktWUNVmTrdR_b3QFPTkwzAzz3hvmIXSJ4RoD8JvEADNSAoESANe0PJ6gGcEVL1nNq9M__TlapLSHHDWpcs6QXJl35bVNhfPF2kZr3KjiR9GEPkSrR9UXzdc-3hbbYQhxPHg3ugxX3hTNi-p765_z2IVYNL3zTmfGLiqfejW64C_QWaf6ZBc_dY6e7u92zbrcbB8em9Wm1ARgLBlrtQBlOcMGjBHQEaXoEnfc8E7ktqUASyGY4BWulGCsaonCtWqZBco1naOrSXeI4e1g0yj34RB9PikJFYJikaUzikwoHUNK0XZyiO41_ysxyC8v5eSlzF7Kby_lMZPoREoZnJ-Nv9L_sD4BVad3gw</recordid><startdate>20200601</startdate><enddate>20200601</enddate><creator>DeSouza, Bianca</creator><creator>Georgiou, Demetra</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>20200601</creationdate><title>Advances in Hereditary Colorectal Cancer: Opportunities and Challenges for Clinical Translation</title><author>DeSouza, Bianca ; Georgiou, Demetra</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c200t-44bc90ae741d0dd90f2aa351f7d7f9aa3b300599497616a9446b2a18ab4e037c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Cancer</topic><topic>Cancer Genomics (K Snape and H Hanson</topic><topic>Colorectal cancer</topic><topic>Colorectal carcinoma</topic><topic>Genetic screening</topic><topic>Immune checkpoint inhibitors</topic><topic>Internal Medicine</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Morbidity</topic><topic>Phenotypes</topic><topic>Polyposis</topic><topic>Precision medicine</topic><topic>Section Editors</topic><topic>Topical Collection on Cancer Genomics</topic><topic>Translation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>DeSouza, Bianca</creatorcontrib><creatorcontrib>Georgiou, Demetra</creatorcontrib><collection>CrossRef</collection><jtitle>Current genetic medicine reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>DeSouza, Bianca</au><au>Georgiou, Demetra</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Advances in Hereditary Colorectal Cancer: Opportunities and Challenges for Clinical Translation</atitle><jtitle>Current genetic medicine reports</jtitle><stitle>Curr Genet Med Rep</stitle><date>2020-06-01</date><risdate>2020</risdate><volume>8</volume><issue>2</issue><spage>47</spage><epage>60</epage><pages>47-60</pages><issn>2167-4876</issn><eissn>2167-4876</eissn><abstract>Purpose of Review
Over the last decade, tremendous progress has been made in our understanding, clinical evaluation, and management of hereditary colorectal cancer (CRC). This review provides an overview of recent developments and highlights opportunities and future challenges for clinical translation.
Recent Findings
Novel genes have been identified associated with predisposition to CRC and polyposis including,
POLE
,
POLD1
,
NTHL1
,
MSH3
, and
RNF43
. Genetic testing has transitioned from phenotype-specific single-gene testing to multigene panels, and universal screening programmes for Lynch syndrome (LS) have been widely implemented. In addition, CRC patients with LS can now access precision medicine through the recent discovery of immune checkpoint inhibitors and risk-reducing interventions.
Summary
Our recent advances in hereditary CRC can significantly decrease cancer-related morbidity and mortality. However, several barriers to clinical translation have been reported. Further characterisation of novel and non-traditional CRC genes improved multi-disciplinary communication, and patient education is now required.</abstract><cop>New York</cop><pub>Springer US</pub><doi>10.1007/s40142-020-00183-x</doi><tpages>14</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2167-4876 |
| ispartof | Current genetic medicine reports, 2020-06, Vol.8 (2), p.47-60 |
| issn | 2167-4876 2167-4876 |
| language | eng |
| recordid | cdi_proquest_journals_2399319741 |
| source | Springer Nature |
| subjects | Cancer Cancer Genomics (K Snape and H Hanson Colorectal cancer Colorectal carcinoma Genetic screening Immune checkpoint inhibitors Internal Medicine Medicine Medicine & Public Health Morbidity Phenotypes Polyposis Precision medicine Section Editors Topical Collection on Cancer Genomics Translation |
| title | Advances in Hereditary Colorectal Cancer: Opportunities and Challenges for Clinical Translation |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-08T02%3A42%3A49IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Advances%20in%20Hereditary%20Colorectal%20Cancer:%20Opportunities%20and%20Challenges%20for%20Clinical%20Translation&rft.jtitle=Current%20genetic%20medicine%20reports&rft.au=DeSouza,%20Bianca&rft.date=2020-06-01&rft.volume=8&rft.issue=2&rft.spage=47&rft.epage=60&rft.pages=47-60&rft.issn=2167-4876&rft.eissn=2167-4876&rft_id=info:doi/10.1007/s40142-020-00183-x&rft_dat=%3Cproquest_cross%3E2399319741%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c200t-44bc90ae741d0dd90f2aa351f7d7f9aa3b300599497616a9446b2a18ab4e037c3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2399319741&rft_id=info:pmid/&rfr_iscdi=true |