Unravelling mutational signatures with plasma circulating tumour DNA
Abstract The use of circulating tumour DNA (ctDNA) to profile mutational signatures represents a non-invasive opportunity for understanding cancer mutational processes. Here we present MisMatchFinder, a liquid biopsy approach for mutational signature detection using low-coverage whole-genome sequenc...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2024-11-01
|
| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-024-54193-2 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1846165077490663424 |
|---|---|
| author | Sebastian Hollizeck Ning Wang Stephen Q. Wong Cassandra Litchfield Jerick Guinto Sarah Ftouni Richard Rebello Sehrish Kanwal Ruining Dong Sean Grimmond Shahneen Sandhu Linda Mileshkin Richard W. Tothill Dineika Chandrananda Sarah-Jane Dawson |
| author_facet | Sebastian Hollizeck Ning Wang Stephen Q. Wong Cassandra Litchfield Jerick Guinto Sarah Ftouni Richard Rebello Sehrish Kanwal Ruining Dong Sean Grimmond Shahneen Sandhu Linda Mileshkin Richard W. Tothill Dineika Chandrananda Sarah-Jane Dawson |
| author_sort | Sebastian Hollizeck |
| collection | DOAJ |
| description | Abstract The use of circulating tumour DNA (ctDNA) to profile mutational signatures represents a non-invasive opportunity for understanding cancer mutational processes. Here we present MisMatchFinder, a liquid biopsy approach for mutational signature detection using low-coverage whole-genome sequencing of ctDNA. Through analysis of 375 plasma samples across 9 cancers, we demonstrate that MisMatchFinder accurately infers single-base and doublet-base substitutions, as well as insertions and deletions to enhance the detection of ctDNA and clinically relevant mutational signatures. |
| format | Article |
| id | doaj-art-db7a898b61ab4233a1819ffabcbe623b |
| institution | Kabale University |
| issn | 2041-1723 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj-art-db7a898b61ab4233a1819ffabcbe623b2024-11-17T12:35:58ZengNature PortfolioNature Communications2041-17232024-11-011511910.1038/s41467-024-54193-2Unravelling mutational signatures with plasma circulating tumour DNASebastian Hollizeck0Ning Wang1Stephen Q. Wong2Cassandra Litchfield3Jerick Guinto4Sarah Ftouni5Richard Rebello6Sehrish Kanwal7Ruining Dong8Sean Grimmond9Shahneen Sandhu10Linda Mileshkin11Richard W. Tothill12Dineika Chandrananda13Sarah-Jane Dawson14Peter MacCallum Cancer CentrePeter MacCallum Cancer CentrePeter MacCallum Cancer CentrePeter MacCallum Cancer CentrePeter MacCallum Cancer CentrePeter MacCallum Cancer CentreCentre for Cancer Research, The University of MelbourneCentre for Cancer Research, The University of MelbourneCentre for Cancer Research, The University of MelbourneCentre for Cancer Research, The University of MelbournePeter MacCallum Cancer CentrePeter MacCallum Cancer CentreSir Peter MacCallum Department of Oncology, The University of MelbournePeter MacCallum Cancer CentrePeter MacCallum Cancer CentreAbstract The use of circulating tumour DNA (ctDNA) to profile mutational signatures represents a non-invasive opportunity for understanding cancer mutational processes. Here we present MisMatchFinder, a liquid biopsy approach for mutational signature detection using low-coverage whole-genome sequencing of ctDNA. Through analysis of 375 plasma samples across 9 cancers, we demonstrate that MisMatchFinder accurately infers single-base and doublet-base substitutions, as well as insertions and deletions to enhance the detection of ctDNA and clinically relevant mutational signatures.https://doi.org/10.1038/s41467-024-54193-2 |
| spellingShingle | Sebastian Hollizeck Ning Wang Stephen Q. Wong Cassandra Litchfield Jerick Guinto Sarah Ftouni Richard Rebello Sehrish Kanwal Ruining Dong Sean Grimmond Shahneen Sandhu Linda Mileshkin Richard W. Tothill Dineika Chandrananda Sarah-Jane Dawson Unravelling mutational signatures with plasma circulating tumour DNA Nature Communications |
| title | Unravelling mutational signatures with plasma circulating tumour DNA |
| title_full | Unravelling mutational signatures with plasma circulating tumour DNA |
| title_fullStr | Unravelling mutational signatures with plasma circulating tumour DNA |
| title_full_unstemmed | Unravelling mutational signatures with plasma circulating tumour DNA |
| title_short | Unravelling mutational signatures with plasma circulating tumour DNA |
| title_sort | unravelling mutational signatures with plasma circulating tumour dna |
| url | https://doi.org/10.1038/s41467-024-54193-2 |
| work_keys_str_mv | AT sebastianhollizeck unravellingmutationalsignatureswithplasmacirculatingtumourdna AT ningwang unravellingmutationalsignatureswithplasmacirculatingtumourdna AT stephenqwong unravellingmutationalsignatureswithplasmacirculatingtumourdna AT cassandralitchfield unravellingmutationalsignatureswithplasmacirculatingtumourdna AT jerickguinto unravellingmutationalsignatureswithplasmacirculatingtumourdna AT sarahftouni unravellingmutationalsignatureswithplasmacirculatingtumourdna AT richardrebello unravellingmutationalsignatureswithplasmacirculatingtumourdna AT sehrishkanwal unravellingmutationalsignatureswithplasmacirculatingtumourdna AT ruiningdong unravellingmutationalsignatureswithplasmacirculatingtumourdna AT seangrimmond unravellingmutationalsignatureswithplasmacirculatingtumourdna AT shahneensandhu unravellingmutationalsignatureswithplasmacirculatingtumourdna AT lindamileshkin unravellingmutationalsignatureswithplasmacirculatingtumourdna AT richardwtothill unravellingmutationalsignatureswithplasmacirculatingtumourdna AT dineikachandrananda unravellingmutationalsignatureswithplasmacirculatingtumourdna AT sarahjanedawson unravellingmutationalsignatureswithplasmacirculatingtumourdna |