Researcher of the Center for Molecular Genetic Diagnosis at the IDIBELL and the Oncogenetics Laboratory and Unit High Risk and Prevention Cancer of the Hospital Vall d’Hebron have studied a family affected by both type 1 neurofibromatosis and early breast cancer and they have detected mutations in NF1 and BRCA1 genes responsible for the two diseases, respectively.
The results of the study have been published in the online edition of the journal Breast Cancer Research and Treatment.
Neurofibromatosis type 1 is a common neurocutaneous disease caused by mutations in the NF1 gene. It is manifested clinically by the presence of spots “latte” and neurofibromas (benign tumors of the peripheral nervous system). Furthermore, several studies associate NF1 mutations with an increased risk of developing different types of malignancies, such as breast cancer.
The study evaluates whether the presence of neurofibromatosis and breast cancer in a family can be attributed to a mutation in the gene NF1 or to the coexistence of two mutations in germ cells, one in the NF1 gene and the other in a gene predisposition to breast cancer (BRCA1 or BRCA2). Molecular analysis concludes that the two diseases in the family are due to the existence of two mutations in the BRCA1 and NF1 genes, respectively.
The researcher at the Center for Molecular Genetic Diagnosis Berta Campos IDIBELL warns that “the results of this study suggest that in the simultaneous existence of two diseases that predispose to cancer is important to identify the genetic origin of the different tumors.”
“That is, if a woman with neurofibromatosis type 1 is diagnosed with breast cancer and her family history suggests hereditary breast cancer, we must look for mutations in the NF1 gene but also for mutations in genes BRCA1 / 2, to be able to adequately monitor the patient and provide specific genetic counseling to the family.”
While several studies attribute a 5% risk of breast cancer in women with NF1 mutation, in the case of a mutation in BRCA1 this risk increases to 40 – 90%.
Genetic Diagnosis Center
The Molecular Genetic Diagnosis Center at IDIBELL pioneered in Spain studies in molecular and clinical genetics and since 1990 is dedicated to clinical and research objectives. During these twenty years of life, CDGM has developed a DNA library with over 30,000 samples of several hereditary diseases and has performed more than 25,000 reports of genetic counseling of these diseases.
Thanks to the large number of samples, the center has been able to complete extensive research on the origin and transmission of DNA mutations that cause these diseases.
In the center are diagnosed hereditary ataxias, neurodegenerative diseases, neurofibromatosis and cystic fibrosis, among others. About Us
Article’s reference
Campos B., Balmaña J., Gardenyes J., Valenzuela I., Abad O., Fàbregas P., Volpini V. and Díez O. Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer. Breast Cancer Research and Treatment. doi 10.1007/s10549-013-2538-6.