Sweden Cancerome Analysis Network - Breast : Genomic Profiling of Breast Cancer

NCT02306096 | Recruiting

• 1 other identifier: SCANB001
• Study Type: observational
• Target: 20,000
• Locations: 1 country
• Sites: 9

Brief Summary

This study evaluates the genomic profiles of breast cancer in a prospective and population-based manner. In the first phase, breast tumors are analyzed by whole transcriptome RNA-sequencing. Gene expression profiles, mutational profiles, and transcript isoform-level data will be analyzed in the context of patient information, clinicopathological variables, and outcome, with the purpose to develop new molecular diagnostic assays for breast cancer. Additional genome-scale RNA, DNA, and protein analyses will be performed in the future.

Conditions

Breast Neoplasms

Keywords

prognostic and predictive biomarkers; RNA-sequencing; pathological complete response; minimal residual disease; molecular subtype; gene expression profiling; mutation screening; BRCA; translational research; genomics; transcriptomics; proteomics; metabolomics; liquid biopsy; circulating tumor cells; circulating tumor DNA; RNA-seq

Outcome Measures

Primary Outcomes (2)

• Biomarkers and clinicopathological information

  Analysis of genomic data (biomarkers) and their relationship to patient and tumor clinicopathological information; assessment of analytical validity.

  up to 20-years

• Invasive disease-free survival

  Different biomarkers will be analysed in the context of invasive disease-free survival (IDFS) at different time-points for different subgroups of the prospective cohort, for example for all patients receiving a particular therapy or patients with tumors of a specific molecular subtype.

  up to 20-years

Secondary Outcomes (3)

• Overall survival

  3-years, 5-years, 10-years, 15-years, 20-years

• Breast cancer-specific survival

  3-years, 5-years, 10-years, 15-years, 20-years

• Pathological response

  intraoperative

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

All patients with suspected or confirmed diagnosis of primary breast cancer within participating hospital systems in the South Sweden Healthcare Region, Uppsala County, and Jönköping Country, Sweden. Additional hospital sites from within the Nordic countries are welcome to join.

You may qualify if:

• suspicion or confirmed diagnosis of primary breast cancer
• signed informed consent

You may not qualify if:

• lack of signed informed consent

Sponsors & Collaborators

• Lund University: lead
• South Sweden Breast Cancer Group: collaborator
• Mrs. Berta Kamprad Foundation: collaborator
• U-CAN: collaborator

Study Sites (9)

Hallands Hospital Halmstad

Halmstad, 30233, Sweden

SUSPENDED

Helsingborg Hospital

Helsingborg, 25187, Sweden

RECRUITING

Kirurgiska kliniken

Jönköping, 55185, Sweden

RECRUITING

Blekinge County Hospital

Karlskrona, 37185, Sweden

RECRUITING

Central Hospital Kristianstad

Kristianstad, 29185, Sweden

RECRUITING

Skåne University Hospital

Lund, 22185, Sweden

RECRUITING

Skåne University Hospital

Malmo, 20502, Sweden

RECRUITING

Uppsala University Hospital

Uppsala, 75185, Sweden

RECRUITING

Central Hospital Växjö

Vaxjo, 35234, Sweden

RECRUITING

Related Publications (39)

• Ryden L, Loman N, Larsson C, Hegardt C, Vallon-Christersson J, Malmberg M, Lindman H, Ehinger A, Saal LH, Borg A. Minimizing inequality in access to precision medicine in breast cancer by real-time population-based molecular analysis in the SCAN-B initiative. Br J Surg. 2018 Jan;105(2):e158-e168. doi: 10.1002/bjs.10741.

  PMID: 29341157 BACKGROUND

• Axelsson U, Ryden L, Johnsson P, Eden P, Mansson J, Hallberg IR, Borrebaeck CAK. A multicenter study investigating the molecular fingerprint of psychological resilience in breast cancer patients: study protocol of the SCAN-B resilience study. BMC Cancer. 2018 Aug 6;18(1):789. doi: 10.1186/s12885-018-4669-y.

  PMID: 30081937 BACKGROUND

• Saal LH, Vallon-Christersson J, Hakkinen J, Hegardt C, Grabau D, Winter C, Brueffer C, Tang MH, Reutersward C, Schulz R, Karlsson A, Ehinger A, Malina J, Manjer J, Malmberg M, Larsson C, Ryden L, Loman N, Borg A. The Sweden Cancerome Analysis Network - Breast (SCAN-B) Initiative: a large-scale multicenter infrastructure towards implementation of breast cancer genomic analyses in the clinical routine. Genome Med. 2015 Feb 2;7(1):20. doi: 10.1186/s13073-015-0131-9. eCollection 2015.

  PMID: 25722745 RESULT

• Staaf J, Glodzik D, Bosch A, Vallon-Christersson J, Reutersward C, Hakkinen J, Degasperi A, Amarante TD, Saal LH, Hegardt C, Stobart H, Ehinger A, Larsson C, Ryden L, Loman N, Malmberg M, Kvist A, Ehrencrona H, Davies HR, Borg A, Nik-Zainal S. Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study. Nat Med. 2019 Oct;25(10):1526-1533. doi: 10.1038/s41591-019-0582-4. Epub 2019 Sep 30.

  PMID: 31570822 RESULT

• Vallon-Christersson J, Hakkinen J, Hegardt C, Saal LH, Larsson C, Ehinger A, Lindman H, Olofsson H, Sjoblom T, Warnberg F, Ryden L, Loman N, Malmberg M, Borg A, Staaf J. Cross comparison and prognostic assessment of breast cancer multigene signatures in a large population-based contemporary clinical series. Sci Rep. 2019 Aug 21;9(1):12184. doi: 10.1038/s41598-019-48570-x.

  PMID: 31434940 RESULT

• Dihge L, Vallon-Christersson J, Hegardt C, Saal LH, Hakkinen J, Larsson C, Ehinger A, Loman N, Malmberg M, Bendahl PO, Borg A, Staaf J, Ryden L. Prediction of Lymph Node Metastasis in Breast Cancer by Gene Expression and Clinicopathological Models: Development and Validation within a Population-Based Cohort. Clin Cancer Res. 2019 Nov 1;25(21):6368-6381. doi: 10.1158/1078-0432.CCR-19-0075. Epub 2019 Jul 24.

  PMID: 31340938 RESULT

• Lundgren C, Bendahl PO, Borg A, Ehinger A, Hegardt C, Larsson C, Loman N, Malmberg M, Olofsson H, Saal LH, Sjoblom T, Lindman H, Klintman M, Hakkinen J, Vallon-Christersson J, Ferno M, Ryden L, Ekholm M. Agreement between molecular subtyping and surrogate subtype classification: a contemporary population-based study of ER-positive/HER2-negative primary breast cancer. Breast Cancer Res Treat. 2019 Nov;178(2):459-467. doi: 10.1007/s10549-019-05378-7. Epub 2019 Aug 20.

  PMID: 31432367 RESULT

• Sokilde R, Persson H, Ehinger A, Pirona AC, Ferno M, Hegardt C, Larsson C, Loman N, Malmberg M, Ryden L, Saal L, Borg A, Vallon-Christerson J, Rovira C. Refinement of breast cancer molecular classification by miRNA expression profiles. BMC Genomics. 2019 Jun 17;20(1):503. doi: 10.1186/s12864-019-5887-7.

  PMID: 31208318 RESULT

• Persson H, Sokilde R, Hakkinen J, Pirona AC, Vallon-Christersson J, Kvist A, Mertens F, Borg A, Mitelman F, Hoglund M, Rovira C. Frequent miRNA-convergent fusion gene events in breast cancer. Nat Commun. 2017 Oct 5;8(1):788. doi: 10.1038/s41467-017-01176-1.

  PMID: 28983113 RESULT

• Persson H, Sokilde R, Hakkinen J, Vallon-Christersson J, Mitelman F, Borg A, Hoglund M, Rovira C. Analysis of fusion transcripts indicates widespread deregulation of snoRNAs and their host genes in breast cancer. Int J Cancer. 2020 Jun 15;146(12):3343-3353. doi: 10.1002/ijc.32927. Epub 2020 Feb 28.

  PMID: 32067223 RESULT

• Winter C, Nilsson MP, Olsson E, George AM, Chen Y, Kvist A, Torngren T, Vallon-Christersson J, Hegardt C, Hakkinen J, Jonsson G, Grabau D, Malmberg M, Kristoffersson U, Rehn M, Gruvberger-Saal SK, Larsson C, Borg A, Loman N, Saal LH. Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic. Ann Oncol. 2016 Aug;27(8):1532-8. doi: 10.1093/annonc/mdw209. Epub 2016 May 18.

  PMID: 27194814 RESULT

• Dahlgren M, George AM, Brueffer C, Gladchuk S, Chen Y, Vallon-Christersson J, Hegardt C, Hakkinen J, Ryden L, Malmberg M, Larsson C, Gruvberger-Saal SK, Ehinger A, Loman N, Borg A, Saal LH. Preexisting Somatic Mutations of Estrogen Receptor Alpha (ESR1) in Early-Stage Primary Breast Cancer. JNCI Cancer Spectr. 2021 Apr 22;5(2):pkab028. doi: 10.1093/jncics/pkab028. eCollection 2021 Apr.

  PMID: 33937624 RESULT

• Brueffer C, Gladchuk S, Winter C, Vallon-Christersson J, Hegardt C, Hakkinen J, George AM, Chen Y, Ehinger A, Larsson C, Loman N, Malmberg M, Ryden L, Borg A, Saal LH. The mutational landscape of the SCAN-B real-world primary breast cancer transcriptome. EMBO Mol Med. 2020 Oct 7;12(10):e12118. doi: 10.15252/emmm.202012118. Epub 2020 Sep 14.

  PMID: 32926574 RESULT

• Glodzik D, Bosch A, Hartman J, Aine M, Vallon-Christersson J, Reutersward C, Karlsson A, Mitra S, Nimeus E, Holm K, Hakkinen J, Hegardt C, Saal LH, Larsson C, Malmberg M, Ryden L, Ehinger A, Loman N, Kvist A, Ehrencrona H, Nik-Zainal S, Borg A, Staaf J. Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers. Nat Commun. 2020 Jul 27;11(1):3747. doi: 10.1038/s41467-020-17537-2.

  PMID: 32719340 RESULT

• Larsson C, Ehinger A, Winslow S, Leandersson K, Klintman M, Dahl L, Vallon-Christersson J, Hakkinen J, Hegardt C, Manjer J, Saal L, Ryden L, Malmberg M, Borg A, Loman N. Prognostic implications of the expression levels of different immunoglobulin heavy chain-encoding RNAs in early breast cancer. NPJ Breast Cancer. 2020 Jul 6;6:28. doi: 10.1038/s41523-020-0170-2. eCollection 2020.

  PMID: 32656317 RESULT

• Fornvik D, Aaltonen KE, Chen Y, George AM, Brueffer C, Rigo R, Loman N, Saal LH, Ryden L. Detection of circulating tumor cells and circulating tumor DNA before and after mammographic breast compression in a cohort of breast cancer patients scheduled for neoadjuvant treatment. Breast Cancer Res Treat. 2019 Sep;177(2):447-455. doi: 10.1007/s10549-019-05326-5. Epub 2019 Jun 24.

  PMID: 31236809 RESULT

• Brueffer C, Vallon-Christersson J, Grabau D, Ehinger A, Hakkinen J, Hegardt C, Malina J, Chen Y, Bendahl PO, Manjer J, Malmberg M, Larsson C, Loman N, Ryden L, Borg A, Saal LH. Clinical Value of RNA Sequencing-Based Classifiers for Prediction of the Five Conventional Breast Cancer Biomarkers: A Report From the Population-Based Multicenter Sweden Cancerome Analysis Network-Breast Initiative. JCO Precis Oncol. 2018 Mar 9;2:PO.17.00135. doi: 10.1200/PO.17.00135. eCollection 2018.

  PMID: 32913985 RESULT

• Nilsson MP, Emmertz M, Kristoffersson U, Borg A, Larsson C, Rehn M, Winter C, Saal LH, Brandberg Y, Loman N. Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting mutation carriers and relatives. J Community Genet. 2018 Jul;9(3):201-208. doi: 10.1007/s12687-017-0341-5. Epub 2017 Oct 30.

  PMID: 29082482 RESULT

• Nilsson MP, Winter C, Kristoffersson U, Rehn M, Larsson C, Saal LH, Loman N. Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer. Fam Cancer. 2017 Apr;16(2):187-193. doi: 10.1007/s10689-016-9953-x.

  PMID: 28120249 RESULT

• Demircan K, Bengtsson Y, Sun Q, Brange A, Vallon-Christersson J, Rijntjes E, Malmberg M, Saal LH, Ryden L, Borg A, Manjer J, Schomburg L. Serum selenium, selenoprotein P and glutathione peroxidase 3 as predictors of mortality and recurrence following breast cancer diagnosis: A multicentre cohort study. Redox Biol. 2021 Nov;47:102145. doi: 10.1016/j.redox.2021.102145. Epub 2021 Sep 21.

  PMID: 34563873 RESULT

• Dalal H, Dahlgren M, Gladchuk S, Brueffer C, Gruvberger-Saal SK, Saal LH. Clinical associations of ESR2 (estrogen receptor beta) expression across thousands of primary breast tumors. Sci Rep. 2022 Mar 18;12(1):4696. doi: 10.1038/s41598-022-08210-3.

  PMID: 35304506 RESULT

• Demircan K, Sun Q, Bengtsson Y, Seemann P, Vallon-Christersson J, Malmberg M, Saal LH, Ryden L, Minich WB, Borg A, Manjer J, Schomburg L. Autoimmunity to selenoprotein P predicts breast cancer recurrence. Redox Biol. 2022 Jul;53:102346. doi: 10.1016/j.redox.2022.102346. Epub 2022 May 25.

  PMID: 35636018 RESULT

• Staaf J, Hakkinen J, Hegardt C, Saal LH, Kimbung S, Hedenfalk I, Lien T, Sorlie T, Naume B, Russnes H, Marcone R, Ayyanan A, Brisken C, Malterling RR, Asking B, Olofsson H, Lindman H, Bendahl PO, Ehinger A, Larsson C, Loman N, Ryden L, Malmberg M, Borg A, Vallon-Christersson J. RNA sequencing-based single sample predictors of molecular subtype and risk of recurrence for clinical assessment of early-stage breast cancer. NPJ Breast Cancer. 2022 Aug 16;8(1):94. doi: 10.1038/s41523-022-00465-3.

  PMID: 35974007 RESULT

• Saghir H, Veerla S, Malmberg M, Ryden L, Ehinger A, Saal LH, Vallon-Christersson J, Borg A, Hegardt C, Larsson C, Haidar A, Hedenfalk I, Loman N, Kimbung S. How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? A Study of Paired Core-Needle Biopsies and Surgical Specimens in Early Breast Cancer. Cancers (Basel). 2022 Aug 18;14(16):4000. doi: 10.3390/cancers14164000.

  PMID: 36010992 RESULT

• Bengtsson Y, Demircan K, Vallon-Christersson J, Malmberg M, Saal LH, Ryden L, Borg A, Schomburg L, Sandsveden M, Manjer J. Serum copper, zinc and copper/zinc ratio in relation to survival after breast cancer diagnosis: A prospective multicenter cohort study. Redox Biol. 2023 Jul;63:102728. doi: 10.1016/j.redox.2023.102728. Epub 2023 May 16.

  PMID: 37210781 RESULT

• Demircan K, Bengtsson Y, Chillon TS, Vallon-Christersson J, Sun Q, Larsson C, Malmberg M, Saal LH, Ryden L, Borg A, Manjer J, Schomburg L. Matched analysis of circulating selenium with the breast cancer selenotranscriptome: a multicentre prospective study. J Transl Med. 2023 Sep 23;21(1):658. doi: 10.1186/s12967-023-04502-y.

  PMID: 37741974 RESULT

• Sharma A, Weitz P, Wang Y, Liu B, Vallon-Christersson J, Hartman J, Rantalainen M. Development and prognostic validation of a three-level NHG-like deep learning-based model for histological grading of breast cancer. Breast Cancer Res. 2024 Jan 29;26(1):17. doi: 10.1186/s13058-024-01770-4.

  PMID: 38287342 RESULT

• Sigurjonsdottir G, De Marchi T, Ehinger A, Hartman J, Bosch A, Staaf J, Killander F, Nimeus E. Comparison of SP142 and 22C3 PD-L1 assays in a population-based cohort of triple-negative breast cancer patients in the context of their clinically established scoring algorithms. Breast Cancer Res. 2023 Oct 10;25(1):123. doi: 10.1186/s13058-023-01724-2.

  PMID: 37817263 RESULT

• Wang Y, Ali MA, Vallon-Christersson J, Humphreys K, Hartman J, Rantalainen M. Transcriptional intra-tumour heterogeneity predicted by deep learning in routine breast histopathology slides provides independent prognostic information. Eur J Cancer. 2023 Sep;191:112953. doi: 10.1016/j.ejca.2023.112953. Epub 2023 Jun 23.

  PMID: 37494846 RESULT

• Nacer DF, Vallon-Christersson J, Nordborg N, Ehrencrona H, Kvist A, Borg A, Staaf J. Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study. Genome Med. 2023 Apr 14;15(1):25. doi: 10.1186/s13073-023-01177-4.

  PMID: 37060015 RESULT

• Gulis K, Ellbrant J, Svensjo T, Skarping I, Vallon-Christersson J, Loman N, Bendahl PO, Ryden L. A prospective cohort study identifying radiologic and tumor related factors of importance for breast conserving surgery after neoadjuvant chemotherapy. Eur J Surg Oncol. 2023 Jul;49(7):1189-1195. doi: 10.1016/j.ejso.2023.03.225. Epub 2023 Mar 28.

  PMID: 37019807 RESULT

• Bjorklund SS, Aure MR, Hakkinen J, Vallon-Christersson J, Kumar S, Evensen KB, Fleischer T, Tost J; OSBREAC; Sahlberg KK, Mathelier A, Bhanot G, Ganesan S, Tekpli X, Kristensen VN. Subtype and cell type specific expression of lncRNAs provide insight into breast cancer. Commun Biol. 2022 Aug 18;5(1):834. doi: 10.1038/s42003-022-03559-7.

  PMID: 35982125 RESULT

• Sartor H, Zackrisson S, Hegardt C, Larsson C. "Association of mammographic features with molecular breast tumor profiles". Cancer Treat Res Commun. 2021;28:100387. doi: 10.1016/j.ctarc.2021.100387. Epub 2021 May 9.

  PMID: 34004506 RESULT

• Veerla S, Hohmann L, Nacer DF, Vallon-Christersson J, Staaf J. Perturbation and stability of PAM50 subtyping in population-based primary invasive breast cancer. NPJ Breast Cancer. 2023 Oct 19;9(1):83. doi: 10.1038/s41523-023-00589-0.

  PMID: 37857634 RESULT

• Aine M, Boyaci C, Hartman J, Hakkinen J, Mitra S, Campos AB, Nimeus E, Ehinger A, Vallon-Christersson J, Borg A, Staaf J. Molecular analyses of triple-negative breast cancer in the young and elderly. Breast Cancer Res. 2021 Feb 10;23(1):20. doi: 10.1186/s13058-021-01392-0.

  PMID: 33568222 RESULT

• Mosquim Junior S, Zamore M, Vallon-Christersson J, Ryden L, Levander F. Multiomic profiling of ER-positive HER2-negative breast cancer reveals markers associated with metastatic spread. Breast Cancer Res. 2026 Jan 12. doi: 10.1186/s13058-025-02173-9. Online ahead of print.

  PMID: 41526910 DERIVED

• Sigurjonsdottir G, De Marchi T, Ehinger A, Hartman J, Ullen S, Leandersson K, Bosch A, Staaf J, Killander F, Nimeus E. Evaluation of alternative prognostic thresholds for SP142 and 22C3 immunohistochemical PD-L1 expression in triple-negative breast cancer: results from a population-based cohort. Breast Cancer Res Treat. 2025 Apr;210(2):271-284. doi: 10.1007/s10549-024-07561-x. Epub 2024 Dec 10.

  PMID: 39656429 DERIVED

• Rediti M, Venet D, Joaquin Garcia A, Maetens M, Vincent D, Majjaj S, El-Abed S, Di Cosimo S, Ueno T, Izquierdo M, Piccart M, Pusztai L, Loi S, Salgado R, Viale G, Rothe F, Sotiriou C. Identification of HER2-positive breast cancer molecular subtypes with potential clinical implications in the ALTTO clinical trial. Nat Commun. 2024 Nov 29;15(1):10402. doi: 10.1038/s41467-024-54621-3.

  PMID: 39613746 DERIVED

• Fornvik D, Borgquist S, Larsson M, Zackrisson S, Skarping I. Deep learning analysis of serial digital breast tomosynthesis images in a prospective cohort of breast cancer patients who received neoadjuvant chemotherapy. Eur J Radiol. 2024 Sep;178:111624. doi: 10.1016/j.ejrad.2024.111624. Epub 2024 Jul 14.

  PMID: 39029241 DERIVED

Related Links

• Sweden Cancerome Analysis Network - Breast (SCAN-B) Website (Lund University) \[SWEDISH LANGUAGE\]

Biospecimen

Retention: SAMPLES WITH DNA

Tumor tissue, whole blood, serum, plasma. Collected at diagnosis and during follow-up.

MeSH Terms

Conditions

Breast Neoplasms; Neoplasm, Residual; Neoplastic Cells, Circulating

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Neoplastic Processes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Neoplasm Metastasis

Study Officials

• Åke Borg, PhD

  Lund University

  STUDY DIRECTOR

• Cecilia Hegardt, PhD

  Lund University

  STUDY CHAIR

• Christer Larsson, PhD

  Lund University

  PRINCIPAL INVESTIGATOR

• Niklas Loman, MD, PhD

  Skane University Hospital

  PRINCIPAL INVESTIGATOR

• Johan Vallon-Christersson, PhD

  Lund University

  PRINCIPAL INVESTIGATOR

• Anna Ehinger, MD, PhD

  Skane University Hospital

  PRINCIPAL INVESTIGATOR

• Lisa Rydén, MD, PhD

  Skane University Hospital

  PRINCIPAL INVESTIGATOR

• Lao H Saal, MD, PhD

  Lund University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Åke Borg, PhD

CONTACT

+46-46-2752552; ake.borg@med.lu.se

Lao Saal, MD, PhD

CONTACT

lao.saal@med.lu.se

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: December 1, 2014
• First Posted: December 3, 2014
• Study Start: August 1, 2010
• Primary Completion (Estimated): August 1, 2031
• Study Completion (Estimated): August 1, 2031
• Last Updated: February 9, 2024

Record last verified: 2024-02

Locations

SE (9)