{rfName}
Co

Indexed in

License and Use

Icono OpenAccess

Altmetrics

Analysis of institutional authors

Lazaro Garcia, ConcepcionAuthorIzquierdo Font, Angel JavierAuthorBrunet JAuthor

Share

October 12, 2022
Publications
>
Article

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Publicated to: Commun Biol. 5 (1): 1061-1061 - 2022-01-01 5(1), DOI: 10.1038/s42003-022-03978-6

Authors:

Hakkaart C; Pearson JF; Marquart L; Dennis J; Wiggins GAR; Barnes DR; Robinson BA; Mace PD; Aittomäki K; Andrulis IL; Arun BK; Azzollini J; Balmaña J; Barkardottir RB; Belhadj S; Berger L; Blok MJ; Boonen SE; Borde J; Bradbury AR; Brunet J; Buys SS; Caligo MA; Campbell I; Chung WK; Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Collonge-Rame MA; Cook J; Cosgrove C; Couch FJ; Daly MB; Dandiker S; Davidson R; de la Hoya M; de Putter R; Delnatte C; Dhawan M; Diez O; Ding YC; Domchek SM; Donaldson A; Eason J; Easton DF; Ehrencrona H; Engel C; Evans DG; Faust U; Feliubadaló L; Fostira F; Friedman E; Frone M; Frost D; Garber J; Gayther SA; Gehrig A; Gesta P; Godwin AK; Goldgar DE; Greene MH; Hahnen E; Hake CR; Hamann U; Hansen TVO; Hauke J; Hentschel J; Herold N; Honisch E; Hulick PJ; Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators; Isaacs C; Izatt L; Izquierdo A; Jakubowska A; James PA; Janavicius R; John EM; Joseph V; Karlan BY; Kemp Z; Kirk J; Konstantopoulou I; Koudijs M; Kwong A; Laitman Y; Lalloo F; Lasset C; Lautrup C; Lazaro C; Legrand C; Leslie G; Lesueur F; Mai PL; Manoukian S; Mari V; Martens JWM; McGuffog L; Mebirouk N; Meindl A; Miller A; Montagna M; Moserle L; Mouret-Fourme E; Musgrave H; Nambot S; Nathanson KL; Neuhausen SL; Nevanlinna H; Yie JNY; Nguyen-Dumont T; Nikitina-Zake L; Offit K; Olah E; Olopade OI; Osorio A; Ott CE; Park SK; Parsons MT; Pedersen IS; Peixoto A; Perez-Segura P; Peterlongo P; Pocza T; Radice P; Ramser J; Rantala J; Rodriguez GC; Rønlund K; Rosenberg EH; Rossing M; Schmutzler RK; Shah PD; Sharif S; Sharma P; Side LE; Simard J; Singer CF; Snape K; Steinemann D; Stoppa-Lyonnet D; Sutter C; Tan YY; Teixeira MR; Teo SH; Thomassen M; Thull DL; Tischkowitz M; Toland AE; Trainer AH; Tripathi V; Tung N; van Engelen K; van Rensburg EJ; Vega A; Viel A; Walker L; Weitzel JN; Wevers MR; Chenevix-Trench G; Spurdle AB; Antoniou AC; Walker LC
[+]

Affiliations

Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA, United States - Author
Center for Clinical Cancer Genetics, University of Chicago, Chicago, IL, United States - Author
Centre Antoine Lacassagne, Nice, France - Author
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom - Author
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, United States - Author
Clinical Genetics Department, St Michael's Hospital, Bristol, United Kingdom - Author
Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, United States - Author
Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, United States - Author
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands - Author
Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark - Author
Department of Clinical Genetics, VU University Medical Center, Amsterdam, Netherlands - Author
Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, United States - Author
Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia - Author
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States - Author
Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA, United States - Author
Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, Netherlands - Author
Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States - Author
Department of Medicine, Huntsman Cancer Institute, Salt Lake City, UT, United States - Author
Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, United States - Author
Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy - Author
Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy - Author
Institute of Human Genetics, Hannover Medical School, Hannover, Germany - Author
Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany - Author
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany - Author
Lombardi Comprehensive Cancer Center, Georgetown UniversityWA, United States - Author
Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece - Author
Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany - Author
Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)Madrid, Spain - Author
N.N. Petrov Institute of Oncology, St. Petersburg, Russian Federation - Author
Oxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom - Author
Radboud University Medical Center, Nijmegen, Netherlands - Author
Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom - Author
SOD Genetica Molecolare, University Hospital, Pisa, Italy - Author
Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy - Author
Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France - Author
See more

Abstract

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR)?=?1.21), 95% confidence interval (95% CI?=?1.09-1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR?=?0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers. © 2022. The Author(s).
[+]

Keywords

Brca1 proteinBrca1 protein, humanBrca2 proteinBrca2 protein, humanBreast neoplasmsBreast tumorCopy number variationDna copy number variationsFemaleGenetic predispositionGenetic predisposition to diseaseGeneticsHeterozygoteHumanHumansMessenger rnaPathologyRna, messenger

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Commun Biol due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2022, it was in position 12/92, thus managing to position itself as a Q1 (Primer Cuartil), in the category Biology.

From a relative perspective, and based on the normalized impact indicator calculated from World Citations from Scopus Elsevier, it yields a value for the Field-Weighted Citation Impact from the Scopus agency: 1.92, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: ESI Nov 13, 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2026-04-05, the following number of citations:

  • Scopus: 10
  • Europe PMC: 8
[+]

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2026-04-05:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 61.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 61 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 131.
  • The number of mentions on the social network X (formerly Twitter): 46 (Altmetric).
  • The number of mentions in news outlets: 14 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
[+]

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Australia; Austria; Belgium; Canada; Denmark; Finland; France; Germany; Greece; Hong Kong; Hungary; Iceland; Israel; Italy; Latvia; Lithuania; Malaysia; Mexico; Netherlands; New Zealand; Poland; Portugal; Republic of Korea; Russia; Singapore; South African Republic; Sweden; United Kingdom; United States of America.

[+]