A catalog of curated breast cancer genes

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

A catalog of curated breast cancer genes. / Bose, Muthiah; Benada, Jan; Thatte, Jayashree Vijay; Kinalis, Savvas; Ejlertsen, Bent; Nielsen, Finn Cilius; Sørensen, Claus Storgaard; Rossing, Maria.

In: Breast Cancer Research and Treatment, Vol. 191, 2022, p. 431-441.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Bose, M, Benada, J, Thatte, JV, Kinalis, S, Ejlertsen, B, Nielsen, FC, Sørensen, CS & Rossing, M 2022, 'A catalog of curated breast cancer genes', Breast Cancer Research and Treatment, vol. 191, pp. 431-441. https://doi.org/10.1007/s10549-021-06441-y

APA

Bose, M., Benada, J., Thatte, J. V., Kinalis, S., Ejlertsen, B., Nielsen, F. C., Sørensen, C. S., & Rossing, M. (2022). A catalog of curated breast cancer genes. Breast Cancer Research and Treatment, 191, 431-441. https://doi.org/10.1007/s10549-021-06441-y

Vancouver

Bose M, Benada J, Thatte JV, Kinalis S, Ejlertsen B, Nielsen FC et al. A catalog of curated breast cancer genes. Breast Cancer Research and Treatment. 2022;191:431-441. https://doi.org/10.1007/s10549-021-06441-y

Author

Bose, Muthiah ; Benada, Jan ; Thatte, Jayashree Vijay ; Kinalis, Savvas ; Ejlertsen, Bent ; Nielsen, Finn Cilius ; Sørensen, Claus Storgaard ; Rossing, Maria. / A catalog of curated breast cancer genes. In: Breast Cancer Research and Treatment. 2022 ; Vol. 191. pp. 431-441.

Bibtex

@article{9993039930204bcfba325c3f0e5c4c94,
title = "A catalog of curated breast cancer genes",
abstract = "Purpose: Decades of research have identified multiple genetic variants associated with breast cancer etiology. However, there is no database that archives breast cancer genes and variants responsible for predisposition. We set out to build a dynamic repository of curated breast cancer genes. Methods: A comprehensive literature search was performed in PubMed and Google Scholar, followed by data extraction and harmonization for downstream analysis. Results: Using a subset of 345 studies, we cataloged 652 breast cancer-associated loci across the genome. A majority of these were present in the non-coding region (i.e., intergenic (101) and intronic (345)), whereas only 158 were located within an exon. Using the odds ratio, we identified 429 loci to increase the disease risk and 198 to confer protection against breast cancer, whereas 25 were identified to both increase disease risk and confer protection against breast cancer. Chromosomal ideogram analysis indicated that chromosomes 17 and 19 have the highest density of breast cancer loci. We manually annotated and collated breast cancer genes in which a previous association between rare-monogenic variant and breast cancer has been documented. Finally, network and functional enrichment analysis revealed that steroid metabolism and DNA repair pathways were predominant among breast cancer genes and variants. Conclusions: We have built an online interactive catalog of curated breast cancer genes (https://cbcg.dk). This will expedite clinical diagnostics and support the ongoing efforts in managing breast cancer etiology. Moreover, the database will serve as an essential repository when designing new breast cancer multigene panels.",
keywords = "Breast cancer, Common-polygenic variants, Database, DNA repair pathways, Genetic predisposition, Rare-monogenic variants",
author = "Muthiah Bose and Jan Benada and Thatte, {Jayashree Vijay} and Savvas Kinalis and Bent Ejlertsen and Nielsen, {Finn Cilius} and S{\o}rensen, {Claus Storgaard} and Maria Rossing",
note = "Publisher Copyright: {\textcopyright} 2021, The Author(s).",
year = "2022",
doi = "10.1007/s10549-021-06441-y",
language = "English",
volume = "191",
pages = "431--441",
journal = "Breast Cancer Research and Treatment",
issn = "0167-6806",
publisher = "Springer",

}

RIS

TY - JOUR

T1 - A catalog of curated breast cancer genes

AU - Bose, Muthiah

AU - Benada, Jan

AU - Thatte, Jayashree Vijay

AU - Kinalis, Savvas

AU - Ejlertsen, Bent

AU - Nielsen, Finn Cilius

AU - Sørensen, Claus Storgaard

AU - Rossing, Maria

N1 - Publisher Copyright: © 2021, The Author(s).

PY - 2022

Y1 - 2022

N2 - Purpose: Decades of research have identified multiple genetic variants associated with breast cancer etiology. However, there is no database that archives breast cancer genes and variants responsible for predisposition. We set out to build a dynamic repository of curated breast cancer genes. Methods: A comprehensive literature search was performed in PubMed and Google Scholar, followed by data extraction and harmonization for downstream analysis. Results: Using a subset of 345 studies, we cataloged 652 breast cancer-associated loci across the genome. A majority of these were present in the non-coding region (i.e., intergenic (101) and intronic (345)), whereas only 158 were located within an exon. Using the odds ratio, we identified 429 loci to increase the disease risk and 198 to confer protection against breast cancer, whereas 25 were identified to both increase disease risk and confer protection against breast cancer. Chromosomal ideogram analysis indicated that chromosomes 17 and 19 have the highest density of breast cancer loci. We manually annotated and collated breast cancer genes in which a previous association between rare-monogenic variant and breast cancer has been documented. Finally, network and functional enrichment analysis revealed that steroid metabolism and DNA repair pathways were predominant among breast cancer genes and variants. Conclusions: We have built an online interactive catalog of curated breast cancer genes (https://cbcg.dk). This will expedite clinical diagnostics and support the ongoing efforts in managing breast cancer etiology. Moreover, the database will serve as an essential repository when designing new breast cancer multigene panels.

AB - Purpose: Decades of research have identified multiple genetic variants associated with breast cancer etiology. However, there is no database that archives breast cancer genes and variants responsible for predisposition. We set out to build a dynamic repository of curated breast cancer genes. Methods: A comprehensive literature search was performed in PubMed and Google Scholar, followed by data extraction and harmonization for downstream analysis. Results: Using a subset of 345 studies, we cataloged 652 breast cancer-associated loci across the genome. A majority of these were present in the non-coding region (i.e., intergenic (101) and intronic (345)), whereas only 158 were located within an exon. Using the odds ratio, we identified 429 loci to increase the disease risk and 198 to confer protection against breast cancer, whereas 25 were identified to both increase disease risk and confer protection against breast cancer. Chromosomal ideogram analysis indicated that chromosomes 17 and 19 have the highest density of breast cancer loci. We manually annotated and collated breast cancer genes in which a previous association between rare-monogenic variant and breast cancer has been documented. Finally, network and functional enrichment analysis revealed that steroid metabolism and DNA repair pathways were predominant among breast cancer genes and variants. Conclusions: We have built an online interactive catalog of curated breast cancer genes (https://cbcg.dk). This will expedite clinical diagnostics and support the ongoing efforts in managing breast cancer etiology. Moreover, the database will serve as an essential repository when designing new breast cancer multigene panels.

KW - Breast cancer

KW - Common-polygenic variants

KW - Database

KW - DNA repair pathways

KW - Genetic predisposition

KW - Rare-monogenic variants

U2 - 10.1007/s10549-021-06441-y

DO - 10.1007/s10549-021-06441-y

M3 - Journal article

C2 - 34755241

AN - SCOPUS:85118666219

VL - 191

SP - 431

EP - 441

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

SN - 0167-6806

ER -

ID: 284700448