Clinical characteristics of laryngeal cancer in BRCA-1 mutation carriers.

BACKGROUND: The aim of this study was to analyze the occurrence of clinical features characteristic of breast cancer type 1 susceptibility protein (BRCA-1)-dependent tumors in a series of BRCA-1 mutation carriers with laryngeal cancer. PATIENTS AND METHODS: The clinical features of five laryngeal cancer patients with BRCA-1 mutations registered in our center were analyzed for: sex, age at diagnosis, age at operation, tumor size and localization, histopathological subtype and grading, lymph node and distant metastases, mode of treatment and long term results of the therapy. RESULTS: The five patients were all men, with an average age at diagnosis of 52.4 years. The majority of the patients had clinical features typical of BRCA-1-dependent tumors: four out of the five patients had advanced staging at the time of diagnosis and in three of them the disorder disseminated within one year of follow-up. CONCLUSION: Since laryngeal carcinomas in men with BRCA-1 mutations show clinical features characteristic of BRCA-1 dependent tumors, it is reasonable to consider treatment modifications appropriate for this sub-group of tumors.

Pleomorphic adenoma of salivary glands does not appear to be a BRCA-1-dependent tumour in a Polish cohort.

BACKGROUND: The aim of the study was to examine whether pleomorphic adenoma of salivary glands can occur on the basis of constitutional BRCA-1 mutations. MATERIALS AND METHODS: Two hundred and sixty-eight patients affected by mixed tumour of salivary glands were examined for occurrence of three BRCA-1 mutations dominating in Poland. RESULTS: BRCA-1 mutation was detected in only one of the patients, a female affected by breast cancer and pleomorphic adenoma of parotid gland. Parotid gland tumour showed clinical and histopathological features of typical pleomorphic adenoma with no morphological features of high-grade malignancy, which are characteristic of BRCA-1-dependent tumours. CONCLUSION: Considering the low frequency of BRCA-1 mutation in the examined group and also the absence of features characterizing BRCA-1-dependent tumours in the only BRCA-1-positive case, pleomorphic adenoma of salivary glands should not be recognized as a BRCA-1 dependent tumour.

Electroretinographic changes in eyes of patients with BRCA1 gene mutation.

AIM: To assess the retinal function in BRCA1 gene mutation carriers and to evaluate the clinical significance of its potential alterations. PATIENTS AND METHODS: Flash electroretinogram (ERG) was studied in 15 unaffected patients (30 eyes) with constitutional BRCA1 gene mutation. Routine ophthalmological examination was additionally performed in the oldest, unaffected 15 patients and in 15 breast cancer patients being carriers of BRCA1 mutation. RESULTS: In ERGs, in the maximal response, a-wave (p < 0.03) and b-wave (p < 0.05) amplitudes were reduced. In the cone single-flash response, the amplitude of a-wave (p < 0.007) was also reduced. In the oscillatory potentials (OPs), increased amplitude of OP2 (p < 0.03), and increased latencies of OP3 (p < 0.0009) and OP4 (p < 0.03) were obtained. BRCA1 carriers even at old age or after treatment of breast cancer have not presented increased frequency of abnormalities detectable by routine ophthalmological examination. CONCLUSION: It can be hypothesized that dysfunction of rods, cones and inner retinal layers is present in asymptomatic carriers of BRCA1 gene mutation; however, this does not have clinical consequences.