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

다국어 초록 (Multilingual Abstract)

Neurofibromatosis type 1 (NF1), which may occur as an autosomaldominant disorder, is caused by the absence of neurofibrominprotein due to somatic mutations in the NF1 gene, and it hasbeen associated with an increased risk of breast cancer. Hereinwe describe a family with two women affected by both NF1 andearly-onset breast cancer. We evaluated whether the concomitanceof NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Koreanfamily with clinical features of both NF1 and hereditarybreast cancer. Mutation analyses identified nonsense mutationsin NF1 and BRCA1 genes. Our findings indicate that an awarenessof the possible concomitance of NF1 and BRCA1 genemutations is important for identifying the genetic origin of earlyonsetbreast cancer in patients with NF1 to achieve early detectionof cancers and decrease breast cancer-associated morbidityand mortality in these patients.

참고문헌 (Reference)

1 Sharif S, "Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening" 44 : 481-484, 2007

2 Rasmussen SA, "NF1 gene and neurofibromatosis 1" 151 : 33-40, 2000

3 Evans DG, "Mortality in neurofibromatosis 1 : in North West England : an assessment of actuarial survival in a region of the UK since 1989" 19 : 1187-1191, 2011

4 Brems H, "Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1" 10 : 508-515, 2009

5 Korf BR, "Malignancy in neurofibromatosis type 1" 5 : 477-485, 2000

6 Madanikia SA, "Increased risk of breast cancer in women with NF1" 158A : 3056-3060, 2012

7 Campos B, "Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer" 139 : 597-602, 2013

8 el-Zawahry MD, "Breast lesions in generalized neurofibromatosis : breast cancer and cystosarcoma phylloides" 2 : 121-124, 1989

9 Nakamura M, "Breast cancer associated with Recklinghausen’s disease : report of a case" 67 : 3-9, 1998

10 Evans DG, "Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service" 152A : 327-332, 2010

11 Ceccaroni M, "BRCA1-related malignancies in a family presenting with von Recklinghausen’s disease" 86 : 375-378, 2002

12 Walker L, "A prospective study of neurofibromatosis type 1 cancer incidence in the UK" 95 : 233-238, 2006

13 Güran S, "A case of neurofibromatosis and breast cancer : loss of heterozygosity of NF1 in breast cancer" 156 : 86-88, 2005