Cancer genetics meets biomolecular mechanism-bridging an age-old gulf
© 2018 Federation of European Biochemical Societies..
Increasingly available genomic sequencing data are exploited to identify genes and variants contributing to diseases, particularly cancer. Traditionally, methods to find such variants have relied heavily on allele frequency and/or familial history, often neglecting to consider any mechanistic understanding of their functional consequences. Thus, while the set of known cancer-related genes has increased, for many, their mechanistic role in the disease is not completely understood. This issue highlights a wide gap between the disciplines of genetics, which largely aims to correlate genetic events with phenotype, and molecular biology, which ultimately aims at a mechanistic understanding of biological processes. Fortunately, new methods and several systematic studies have proved illuminating for many disease genes and variants by integrating sequencing with mechanistic data, including biomolecular structures and interactions. These have provided new interpretations for known mutations and suggested new disease-relevant variants and genes. Here, we review these approaches and discuss particular examples where these have had a profound impact on the understanding of human cancers.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2018 |
|---|---|
| Erschienen: |
2018 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:592 |
|---|---|
| Enthalten in: |
FEBS letters - 592(2018), 4 vom: 24. Feb., Seite 463-474 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
González-Sánchez, Juan Carlos [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Bioinformatics |
|---|
| Anmerkungen: |
Date Completed 01.01.2019 Date Revised 01.01.2019 published: Print-Electronic PDB: 3GFT, 2RD0 Citation Status MEDLINE |
|---|
| doi: |
10.1002/1873-3468.12988 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM280260083 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM280260083 | ||
| 003 | DE-627 | ||
| 005 | 20231225024929.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2018 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1002/1873-3468.12988 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n0934.xml |
| 035 | |a (DE-627)NLM280260083 | ||
| 035 | |a (NLM)29364530 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a González-Sánchez, Juan Carlos |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Cancer genetics meets biomolecular mechanism-bridging an age-old gulf |
| 264 | 1 | |c 2018 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 01.01.2019 | ||
| 500 | |a Date Revised 01.01.2019 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a PDB: 3GFT, 2RD0 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2018 Federation of European Biochemical Societies. | ||
| 520 | |a Increasingly available genomic sequencing data are exploited to identify genes and variants contributing to diseases, particularly cancer. Traditionally, methods to find such variants have relied heavily on allele frequency and/or familial history, often neglecting to consider any mechanistic understanding of their functional consequences. Thus, while the set of known cancer-related genes has increased, for many, their mechanistic role in the disease is not completely understood. This issue highlights a wide gap between the disciplines of genetics, which largely aims to correlate genetic events with phenotype, and molecular biology, which ultimately aims at a mechanistic understanding of biological processes. Fortunately, new methods and several systematic studies have proved illuminating for many disease genes and variants by integrating sequencing with mechanistic data, including biomolecular structures and interactions. These have provided new interpretations for known mutations and suggested new disease-relevant variants and genes. Here, we review these approaches and discuss particular examples where these have had a profound impact on the understanding of human cancers | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a bioinformatics | |
| 650 | 4 | |a genetics | |
| 650 | 4 | |a mechanism | |
| 650 | 4 | |a protein interactions | |
| 650 | 4 | |a protein structure | |
| 700 | 1 | |a Raimondi, Francesco |e verfasserin |4 aut | |
| 700 | 1 | |a Russell, Robert B |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t FEBS letters |d 1968 |g 592(2018), 4 vom: 24. Feb., Seite 463-474 |w (DE-627)NLM000016691 |x 1873-3468 |7 nnns |
| 773 | 1 | 8 | |g volume:592 |g year:2018 |g number:4 |g day:24 |g month:02 |g pages:463-474 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1002/1873-3468.12988 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 592 |j 2018 |e 4 |b 24 |c 02 |h 463-474 | ||