Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes
<p dir="ltr">Cascade genetic testing is the process of extending genetic testing to at-risk blood relatives of individuals (called “probands”) found to carry cancer predisposition germline pathogenic gene variants. Cascade testing is critical as relatives found to carry a pathogenic...
Saved in:
| Main Author: | |
|---|---|
| Other Authors: | , , , , , , |
| Published: |
2023
|
| Subjects: | |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1864513533522214912 |
|---|---|
| author | Muhammad Danyal Ahsan (14488278) |
| author2 | Emily M. Webster (15153079) Natalie T. Nguyen (14522624) Murtaza Qazi (14115377) Sarah R. Levi (8445507) Lisa C. Diamond (17727666) Ravi N. Sharaf (14488284) Melissa K. Frey (15153085) |
| author2_role | author author author author author author author |
| author_facet | Muhammad Danyal Ahsan (14488278) Emily M. Webster (15153079) Natalie T. Nguyen (14522624) Murtaza Qazi (14115377) Sarah R. Levi (8445507) Lisa C. Diamond (17727666) Ravi N. Sharaf (14488284) Melissa K. Frey (15153085) |
| author_role | author |
| dc.creator.none.fl_str_mv | Muhammad Danyal Ahsan (14488278) Emily M. Webster (15153079) Natalie T. Nguyen (14522624) Murtaza Qazi (14115377) Sarah R. Levi (8445507) Lisa C. Diamond (17727666) Ravi N. Sharaf (14488284) Melissa K. Frey (15153085) |
| dc.date.none.fl_str_mv | 2023-04-28T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1038/s41431-023-01364-2 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Underrepresentation_of_racial_and_ethnic_minorities_in_cascade_testing_for_hereditary_cancer_syndromes/24935973 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics hereditary cancer syndromes cascade genetic testing probands |
| dc.title.none.fl_str_mv | Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Cascade genetic testing is the process of extending genetic testing to at-risk blood relatives of individuals (called “probands”) found to carry cancer predisposition germline pathogenic gene variants. Cascade testing is critical as relatives found to carry a pathogenic gene variant have the opportunity to pursue targeted cancer risk reduction and early detection, decreasing cancer-associated morbidity and mortality. The Centers for Disease Control and Prevention Office of Public Health Genomics has designated cascade genetic testing as a tier one genomic application for Hereditary Breast and Ovarian Cancer and Lynch syndrome. Mathematical modeling suggests that the combination of germline genetic testing at time of cancer diagnosis with subsequent cascade testing of at-risk relatives has the potential to identify all individuals with a cancer predisposing pathogenic variant in the United States in less than a decade. However, our recent systematic review published in the Journal of Clinical Oncology demonstrates that only about a third of at-risk relatives undergo recommended cascade testing.</p><p dir="ltr"><br></p><h2>Other Information</h2><p dir="ltr">Published in: European Journal of Human Genetics<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1038/s41431-023-01364-2" target="_blank">https://dx.doi.org/10.1038/s41431-023-01364-2</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_9dcb0e423e0f76bce2ff2995fe427098 |
| identifier_str_mv | 10.1038/s41431-023-01364-2 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/24935973 |
| publishDate | 2023 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromesMuhammad Danyal Ahsan (14488278)Emily M. Webster (15153079)Natalie T. Nguyen (14522624)Murtaza Qazi (14115377)Sarah R. Levi (8445507)Lisa C. Diamond (17727666)Ravi N. Sharaf (14488284)Melissa K. Frey (15153085)Biological sciencesGeneticshereditary cancer syndromescascade genetic testingprobands<p dir="ltr">Cascade genetic testing is the process of extending genetic testing to at-risk blood relatives of individuals (called “probands”) found to carry cancer predisposition germline pathogenic gene variants. Cascade testing is critical as relatives found to carry a pathogenic gene variant have the opportunity to pursue targeted cancer risk reduction and early detection, decreasing cancer-associated morbidity and mortality. The Centers for Disease Control and Prevention Office of Public Health Genomics has designated cascade genetic testing as a tier one genomic application for Hereditary Breast and Ovarian Cancer and Lynch syndrome. Mathematical modeling suggests that the combination of germline genetic testing at time of cancer diagnosis with subsequent cascade testing of at-risk relatives has the potential to identify all individuals with a cancer predisposing pathogenic variant in the United States in less than a decade. However, our recent systematic review published in the Journal of Clinical Oncology demonstrates that only about a third of at-risk relatives undergo recommended cascade testing.</p><p dir="ltr"><br></p><h2>Other Information</h2><p dir="ltr">Published in: European Journal of Human Genetics<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1038/s41431-023-01364-2" target="_blank">https://dx.doi.org/10.1038/s41431-023-01364-2</a></p>2023-04-28T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1038/s41431-023-01364-2https://figshare.com/articles/journal_contribution/Underrepresentation_of_racial_and_ethnic_minorities_in_cascade_testing_for_hereditary_cancer_syndromes/24935973CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/249359732023-04-28T03:00:00Z |
| spellingShingle | Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes Muhammad Danyal Ahsan (14488278) Biological sciences Genetics hereditary cancer syndromes cascade genetic testing probands |
| status_str | publishedVersion |
| title | Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes |
| title_full | Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes |
| title_fullStr | Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes |
| title_full_unstemmed | Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes |
| title_short | Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes |
| title_sort | Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes |
| topic | Biological sciences Genetics hereditary cancer syndromes cascade genetic testing probands |