Evidence map›Paper›PMID 33579978›Full record

ArticleNPJ breast cancer2021

Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants.

Matteo Lambertini, Marcello Ceppi, Anne-Sophie Hamy, Olivier Caron, Philip D Poorvu, Estela Carrasco, Albert Grinshpun, Kevin Punie, Christine Rousset-Jablonski, Alberta Ferrari and 29 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in NPJ breast cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01468246 (Helping Ourselves, Helping Others), which is not on this map. Cited by 26 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT01468246 active not recruitingnot on this map

Helping Ourselves, Helping Others: The Young Women's Breast Cancer Study

TypeobservationalSponsorDana-Farber Cancer InstituteRan2006 to 2035Enrolled1,302ConditionsBreast Cancer
3 · Its place in the literature

Who cites it

26 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Prevalence of germlineThe Lancet regional health. Western Pacific · 2025
    Article
  8. Observational
  9. Article
  10. Clinical Behavior of Breast Cancer in YoungJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025
    Article
  11. Article
  12. The necessity of adjuvant chemotherapy in young patients with TClinical and experimental medicine · 2025
    Article
  13. Review
  14. Low testing rates and highWorld journal of clinical oncology · 2024
    Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

39 authors at 20 institutions in 11 countries.

Matteo LambertiniDepartment of Internal Medicine and Medical Specialties (DIMI), School of Medicine, University of Genova, Genova, Italy. matteo.lambertini@unige.it.ORCID http://orcid.org/0000-0003-1797-5296
Marcello CeppiClinical Epidemiology Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Anne-Sophie HamyDepartment of Medical Oncology, Institut Curie, Paris, France.ORCID http://orcid.org/0000-0003-4430-3022
Olivier CaronDepartment of Medical Oncology, Institut Gustave Roussy, Université Paris-Saclay, Villejuif, France.ORCID http://orcid.org/0000-0001-8934-2071
Philip D PoorvuDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Estela CarrascoHereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Albert GrinshpunSharett Institute of Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.ORCID http://orcid.org/0000-0002-3351-5719
Kevin PunieDepartment of General Medical Oncology and Multidisciplinary Breast Centre, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0002-1162-7963
Christine Rousset-JablonskiDepartment of Surgery, Centre Léon Bérard, Lyon, France.ORCID http://orcid.org/0000-0001-7087-5687
Alberta FerrariDepartment of Surgical Sciences, General Surgery III - Breast Surgery, Fondazione IRCCS Policlinico San Matteo, University of Pavia, aBRCAdaBRA onlus, Pavia, Italy.ORCID http://orcid.org/0000-0003-2525-3787
Shani Paluch-ShimonBreast Oncology Unit, Shaare Zedek Medical Centre and Department of Oncology, Sheba Medical Center, Tel Hashomer, Jerusalem, Israel.
Angela TossDepartment of Oncology and Haematology, Azienda Ospedaliero-Universitaria Policlinico di Modena, Modena, Italy.
Claire SenechalCancer Genetics Unit, Bergonie Institute, Bordeaux, France.
Fabio PuglisiDepartment of Medical Oncology, Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, Aviano, Italy.ORCID http://orcid.org/0000-0003-0573-4938
Katarzyna PogodaDepartment of Breast Cancer and Reconstructive Surgery, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
Jose Alejandro Pérez-FidalgoDepartment of Medical Oncology, INCLIVA University Hospital of Valencia, CIBERONC, Valencia, Spain.
Laura De MarchisDivision of Medical Oncology, Department of Radiological, Oncological and Pathological Sciences, "La Sapienza" University of Rome, Rome, Italy.
Riccardo PonzoneGynecological Oncology, Candiolo Cancer Institute, FPO - IRCCS, Candiolo, Turin, Italy.ORCID http://orcid.org/0000-0002-8822-2454
Luca LivraghiMedical Oncology Unit, ASST Papa Giovanni XXIII, Bergamo, Italy.ORCID http://orcid.org/0000-0002-9119-6277
Maria Del Pilar Estevez-DizDepartament of Oncology, Instituto do Cancer do Estado de Sao Paulo - Faculdade de Medicina da Universidade de Sao Paulo, Pacaembu, Sao Paulo, Brazil.ORCID http://orcid.org/0000-0003-3176-9747
Cynthia Villarreal-GarzaDepartment of Research and Breast Tumors, Mexican National Cancer Institute, Mexico City, Mexico.ORCID http://orcid.org/0000-0003-3587-339X
Maria Vittoria DieciDepartment of Surgery, Oncology and Gastroenterology, University of Padua, Padua, Italy.ORCID http://orcid.org/0000-0002-3967-9861
Florian ClatotDepartment of Medical Oncology, Centre Henri Becquerel, Rouen, France.
Francois P DuhouxDepartment of Medical Oncology, Breast Clinic, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.ORCID http://orcid.org/0000-0002-5429-7888
Rossella GraffeoBreast Unit of Southern Switzerland (CSSI), Oncology Institute of Southern Switzerland, Bellinzona, Switzerland.
Luis TeixeiraBreast Disease Unit, Saint-Louis Hospital, APHP, Université de Paris, INSERM U976, Paris, France.
Octavi CórdobaObstetrics and Gynecology Department, Hospital Universitari Son Espases, Palma, Spain.ORCID http://orcid.org/0000-0002-9591-7430
Amir SonnenblickOncology Division, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv, Israel.
Arlindo R FerreiraBreast Unit, Champalimaud Clinical Center, Champalimaud Foundation, Lisbon, Portugal.
Ann H PartridgeDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.ORCID http://orcid.org/0000-0002-4722-4824
Antonio Di MeglioPredictive Biomarkers and New Therapeutic Strategies in Oncology, INSERM Unit 981, Gustave Roussy, Villejuif, France.
Claire SauleDepartment of Genetics, Institut Curie, Paris, France.
Fedro A PeccatoriGynecologic Oncology Department, European Institute of Oncology IRCCS, Milan, Italy.ORCID http://orcid.org/0000-0001-8227-8740
Marco BruzzoneClinical Epidemiology Unit, IRCCS Ospedale Policlinico San Martino, Genova, Italy.ORCID http://orcid.org/0000-0002-8821-4542
Marie Daphne t'Kint de RoodenbekeDepartment of Medicine, Institut Jules Bordet and Université Libre de Bruxelles (U.L.B.), Brussels, Belgium.
Lieveke AmeyeData Centre, Institut Jules Bordet and Université Libre de Bruxelles (U.L.B.), Brussels, Belgium.
Judith BalmañaHereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.ORCID http://orcid.org/0000-0002-0762-6415
Lucia Del Mastro *Department of Internal Medicine and Medical Specialties (DIMI), School of Medicine, University of Genova, Genova, Italy.ORCID http://orcid.org/0000-0002-9546-5841
Hatem A Azim *Breast Cancer Center, Hospital Zambrano Hellion, Tecnologico de Monterrey, San Pedro Garza Garcia, NL, Mexico.
Ospedale Policlinico San Martino · ITDana-Farber Cancer Institute · USHospital Zambrano Hellion · MXInserm · FRInstitut Curie · FRUniversité Libre de Bruxelles · BEVall d'Hebron Hospital Universitari · ESAzienda Ospedaliero-Universitaria di Modena · ITCandiolo Cancer Institute · ITCentre Léon Bérard · FRCentre Virchow-Villermé · FRChampalimaud Foundation · PTCliniques Universitaires Saint-Luc · BEEuropean Institute of Oncology · ITHadassah Medical Center · ILHospital Universitario Son Espases · ESINCLIVA Health Research Institute · ESInstitut Bergonié · FRInstitute of Oncology Research · CHKU Leuven · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Young breast cancer (BC) patients carrying a germline BRCA pathogenic variant (mBRCA) have similar outcomes as non-carriers. However, the impact of the type of gene (BRCA1 vs. BRCA2) and hormone receptor status (positive [HR+] vs. negative [HR-]) on clinical behavior and outcomes of mBRCA BC remains largely unknown. This is an international, multicenter, hospital-based, retrospective cohort study that included mBRCA patients diagnosed, between January 2000 and December 2012, with stage I-III invasive early BC at age ≤40 years. From 30 centers worldwide, 1236 young mBRCA BC patients were included. Among 808 and 428 patients with mBRCA1 or mBRCA2, 191 (23.6%) and 356 (83.2%) had HR+tumors, respectively (P < 0.001). Median follow-up was 7.9 years. Second primary BC (P = 0.009) and non-BC malignancies (P = 0.02) were more frequent among mBRCA1 patients while distant recurrences were less frequent (P = 0.02). Irrespective of hormone receptor status, mBRCA1 patients had worse disease-free survival (DFS; adjusted HR = 0.76, 95% CI = 0.60-0.96), with no difference in distant recurrence-free interval (DRFI) and overall survival (OS). Patients with HR+ disease had more frequent distant recurrences (P < 0.001) and less frequent second primary malignancies (BC: P = 0.005; non-BC: P = 0.18). No differences in DFS and OS were observed according to hormone receptor status, with a tendency for worse DRFI (adjusted HR = 1.39, 95% CI = 0.94-2.05) in patients with HR+ BC. Type of mBRCA gene and hormone receptor status strongly impact BC clinical behavior and outcomes in mBRCA young patients. These results provide important information for patients' counseling on treatment, prevention, and surveillance strategies.

Identifiers

PMID33579978
PMCPMC7880991
OpenAlexW3128793461

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.