Germline testing for homologous recombination repair genes: opportunities and challenges
Pathogenic variants in the BRCA1 and BRCA2 genes are well known causes of hereditary breast and ovarian cancer. Other genes involved in the homologous recombination pathway can also be associated with increased probability of cancer development, for example, breast and ovarian cancer, prostate and p...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2021
|
| In: |
Genes, chromosomes & cancer
Year: 2021, Jahrgang: 60, Heft: 5, Pages: 332-343 |
| ISSN: | 1098-2264 |
| DOI: | 10.1002/gcc.22900 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1002/gcc.22900 Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/gcc.22900 
|
| Verfasserangaben: | Steffen Hirsch, Laura Gieldon, Christian Sutter, Nicola Dikow, Christian P. Schaaf |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1780423217 | ||
| 003 | DE-627 | ||
| 005 | 20220208210151.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 211206s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1002/gcc.22900 |2 doi | |
| 035 | |a (DE-627)1780423217 | ||
| 035 | |a (DE-599)KXP1780423217 | ||
| 035 | |a (OCoLC)1295644512 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Hirsch, Steffen |e VerfasserIn |0 (DE-588)1204283125 |0 (DE-627)1689628677 |4 aut | |
| 245 | 1 | 0 | |a Germline testing for homologous recombination repair genes |b opportunities and challenges |c Steffen Hirsch, Laura Gieldon, Christian Sutter, Nicola Dikow, Christian P. Schaaf |
| 264 | 1 | |c 2021 | |
| 300 | |a 12 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a First published: 20 October 2020 | ||
| 500 | |a Gesehen am 06.12.2021 | ||
| 520 | |a Pathogenic variants in the BRCA1 and BRCA2 genes are well known causes of hereditary breast and ovarian cancer. Other genes involved in the homologous recombination pathway can also be associated with increased probability of cancer development, for example, breast and ovarian cancer, prostate and pancreatic cancer, colorectal cancer, and even childhood tumors like medulloblastoma. Traditionally, patients and families likely to harbor a genetic predisposition have been identified using personal and family history. Several checklists and risk prediction tools have proven to be useful in the clinic. Through the widespread application of next generation sequencing of tumor tissue, a growing number of individuals with genetic cancer predisposition is now identified molecularly, even in the absence of a suggestive family history. Any constitutional variant identified during molecular genetic testing has to be assessed for its relevance, both functionally and in the context of patient phenotype. Variant curation is time consuming, but has been increasingly standardized by introduction of several guidelines to allow reliable and reproducible classification of constitutional variants. Variant classification by expert panels using data mining tools, evidence-based decision trees and gene specific criteria represents the gold standard. Participation of geneticists in molecular tumor boards facilitates the curation of potential constitutional variants, germline validation and thus directing the patient to appropriate counselling and care pathways. Due to the high relevance of germline variants for treatment and surveillance of the index patient and predictive testing and surveillance of relatives, only pathogenic or likely pathogenic variants must be used for clinical decision-making. | ||
| 650 | 4 | |a cancer predisposition | |
| 650 | 4 | |a germline | |
| 650 | 4 | |a homologous recombination | |
| 700 | 1 | |a Gieldon, Laura |d 1987- |e VerfasserIn |0 (DE-588)1124934782 |0 (DE-627)879250240 |0 (DE-576)48323849X |4 aut | |
| 700 | 1 | |a Sutter, Christian |e VerfasserIn |0 (DE-588)1067529160 |0 (DE-627)818862068 |0 (DE-576)42671993X |4 aut | |
| 700 | 1 | |a Dikow, Nicola |e VerfasserIn |0 (DE-588)1073294196 |0 (DE-627)82881726X |0 (DE-576)434859397 |4 aut | |
| 700 | 1 | |a Schaaf, Christian P. |d 1978- |e VerfasserIn |0 (DE-588)130397318 |0 (DE-627)500686025 |0 (DE-576)298170345 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Genes, chromosomes & cancer |d New York, NY : Wiley-Liss, 1989 |g 60(2021), 5, Seite 332-343 |h Online-Ressource |w (DE-627)302922369 |w (DE-600)1492641-6 |w (DE-576)094400474 |x 1098-2264 |7 nnas |a Germline testing for homologous recombination repair genes opportunities and challenges |
| 773 | 1 | 8 | |g volume:60 |g year:2021 |g number:5 |g pages:332-343 |g extent:12 |a Germline testing for homologous recombination repair genes opportunities and challenges |
| 856 | 4 | 0 | |u https://doi.org/10.1002/gcc.22900 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://onlinelibrary.wiley.com/doi/abs/10.1002/gcc.22900 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20211206 | ||
| 993 | |a Article | ||
| 994 | |a 2021 | ||
| 998 | |g 130397318 |a Schaaf, Christian P. |m 130397318:Schaaf, Christian P. |d 910000 |d 911500 |e 910000PS130397318 |e 911500PS130397318 |k 0/910000/ |k 1/910000/911500/ |p 5 |y j | ||
| 998 | |g 1073294196 |a Dikow, Nicola |m 1073294196:Dikow, Nicola |d 910000 |d 911500 |e 910000PD1073294196 |e 911500PD1073294196 |k 0/910000/ |k 1/910000/911500/ |p 4 | ||
| 998 | |g 1067529160 |a Sutter, Christian |m 1067529160:Sutter, Christian |d 910000 |d 911500 |e 910000PS1067529160 |e 911500PS1067529160 |k 0/910000/ |k 1/910000/911500/ |p 3 | ||
| 998 | |g 1124934782 |a Gieldon, Laura |m 1124934782:Gieldon, Laura |d 910000 |d 911500 |e 910000PG1124934782 |e 911500PG1124934782 |k 0/910000/ |k 1/910000/911500/ |p 2 | ||
| 998 | |g 1204283125 |a Hirsch, Steffen |m 1204283125:Hirsch, Steffen |d 50000 |e 50000PH1204283125 |k 0/50000/ |p 1 |x j | ||
| 999 | |a KXP-PPN1780423217 |e 4014671038 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"relHost":[{"pubHistory":["1.1989/90 -"],"type":{"media":"Online-Ressource","bibl":"periodical"},"disp":"Germline testing for homologous recombination repair genes opportunities and challengesGenes, chromosomes & cancer","title":[{"title_sort":"Genes, chromosomes & cancer","title":"Genes, chromosomes & cancer"}],"id":{"zdb":["1492641-6"],"doi":["10.1002/(ISSN)1098-2264"],"issn":["1098-2264"],"eki":["302922369"]},"origin":[{"publisher":"Wiley-Liss","publisherPlace":"New York, NY","dateIssuedKey":"1989","dateIssuedDisp":"1989-"}],"part":{"volume":"60","pages":"332-343","text":"60(2021), 5, Seite 332-343","issue":"5","year":"2021","extent":"12"},"physDesc":[{"extent":"Online-Ressource"}],"recId":"302922369","language":["eng"],"note":["Gesehen am 14.12.07"]}],"origin":[{"dateIssuedDisp":"2021","dateIssuedKey":"2021"}],"id":{"doi":["10.1002/gcc.22900"],"eki":["1780423217"]},"person":[{"given":"Steffen","family":"Hirsch","role":"aut","roleDisplay":"VerfasserIn","display":"Hirsch, Steffen"},{"given":"Laura","family":"Gieldon","roleDisplay":"VerfasserIn","role":"aut","display":"Gieldon, Laura"},{"roleDisplay":"VerfasserIn","role":"aut","display":"Sutter, Christian","given":"Christian","family":"Sutter"},{"family":"Dikow","given":"Nicola","role":"aut","roleDisplay":"VerfasserIn","display":"Dikow, Nicola"},{"family":"Schaaf","given":"Christian P.","roleDisplay":"VerfasserIn","role":"aut","display":"Schaaf, Christian P."}],"note":["First published: 20 October 2020","Gesehen am 06.12.2021"],"language":["eng"],"recId":"1780423217","physDesc":[{"extent":"12 S."}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"name":{"displayForm":["Steffen Hirsch, Laura Gieldon, Christian Sutter, Nicola Dikow, Christian P. Schaaf"]},"title":[{"title_sort":"Germline testing for homologous recombination repair genes","title":"Germline testing for homologous recombination repair genes","subtitle":"opportunities and challenges"}]} | ||
| SRT | |a HIRSCHSTEFGERMLINETE2021 | ||