Breast Cancer Research and Treatment

, Volume 139, Issue 2, pp 597–602 | Cite as

Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer

  • Berta CamposEmail author
  • Judith Balmaña
  • Josep Gardenyes
  • Irene Valenzuela
  • Oscar Abad
  • Pere Fàbregas
  • Víctor Volpini
  • Orland Díez
Brief Report


Neurofibromatosis type 1 (NF1) is a common dominant autosomal disorder caused by mutations in the NF1 gene. The main manifestations of NF1 are café-au-lait spots, neurofibromas, intertriginous freckling, Lisch nodules, and malignancy, including peripheral nerve sheath tumors, central nervous system gliomas, and a variety of other tumors not so clearly defined. The association between NF1 and breast cancer or other gynecologic malignancies seems uncommon and has been scarcely referred in the literature. We describe a family with two females affected by both NF1 and early-onset breast cancer, and a male with NF1. We evaluated whether the concomitance of both disorders could be attributed to a NF1 mutation and its supposed increased risk of breast cancer or to the concurrence of two NF1 and BRCA1/2 germline mutations. Mutation analyses identified a frameshift mutation in BRCA1 and a nonsense mutation in NF1. Our findings stress the importance of considering all phenotypic features in families with both NF1 and breast tumors. To offer a specific risk assessment and management of both conditions, NF1 and BRCA1/2 cancer predisposing genes should be analyzed.


NF1 BRCA1 Neurofibromatosis 1 Early-onset breast cancer Genetic counseling 



We thank the proband and her family for their participation in this study. All research carried out for this study complies with the current laws of Spain.

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Berta Campos
    • 1
    Email author
  • Judith Balmaña
    • 2
  • Josep Gardenyes
    • 1
  • Irene Valenzuela
    • 3
  • Oscar Abad
    • 1
  • Pere Fàbregas
    • 1
  • Víctor Volpini
    • 1
  • Orland Díez
    • 4
  1. 1.Center for Molecular Genetic Diagnosis (CDGM)—IDIBELLL’Hospitalet de LlobregatSpain
  2. 2.High Risk and Cancer Prevention Unit, Medical Oncology DepartmentUniversity Hospital Vall HebronBarcelonaSpain
  3. 3.Genetics UnitUniversity Hospital Vall d’HebronBarcelonaSpain
  4. 4.Oncogenetics LaboratoryUniversity Hospital Vall d’Hebron, Vall d’Hebron Institute of Oncology (VHIO), Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de BarcelonaBarcelonaSpain

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