J Breast Cancer.  2015 Mar;18(1):97-100. 10.4048/jbc.2015.18.1.97.

Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1

  • 1Department of Surgery, St. Vincent's Hospital, The Catholic University of Korea College of Medicine, Suwon, Korea. yjsuh@catholic.ac.kr
  • 2Park Breast Clinic, Suwon, Korea.
  • 3Department of Pathology, St. Vincent's Hospital, The Catholic University of Korea College of Medicine, Suwon, Korea.


Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it has been associated with an increased risk of breast cancer. Herein we describe a family with two women affected by both NF1 and early-onset breast cancer. We evaluated whether the concomitance of NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Korean family with clinical features of both NF1 and hereditary breast cancer. Mutation analyses identified nonsense mutations in NF1 and BRCA1 genes. Our findings indicate that an awareness of the possible concomitance of NF1 and BRCA1 gene mutations is important for identifying the genetic origin of early-onset breast cancer in patients with NF1 to achieve early detection of cancers and decrease breast cancer-associated morbidity and mortality in these patients.


BRCA1 genes; Breast neoplasms; Mutation; Neurofibromatosis 1

MeSH Terms

Breast Neoplasms*
Codon, Nonsense
Genes, BRCA1
Genes, Neurofibromatosis 1
Germ-Line Mutation*
Neurofibromatosis 1*
Neurofibromin 1
Codon, Nonsense
Neurofibromin 1


  • Figure 1 Pedigree of the family showing the index case (black arrow). The proband (III:2) was diagnosed with invasive breast carcinoma at 21 years of age and neurofibromatosis type 1 (NF1) at birth. Her mother (II:1) was affected with bilateral breast carcinoma, ovarian carcinoma and NF1. Although her grandmother (I:1) was affected by NF1, she did not have a history of carcinoma. Other familial members were not affected by cancer or NF1.

  • Figure 2 Mutation analysis in the proband. (A) The NF1 sequence analysis detected a nonsense mutation in exon27, c.3616G>T (p.Glu1206). (B) The BRCA1 sequence analysis detected a nonsense mutation in exon7, 509C>A (p.Tyr130X).


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