ABSTRACT
Breast cancers related to BRCA mutations are associated with particular biological features. Here we report the clinical and pathological characteristics of breast cancer in Chinese women with and without BRCA mutations and of carriers of BRCA1 mutations compared to BRCA2 mutations. Two hundred and 26 high-risk Hong Kong Chinese women were tested for BRCA mutations, medical information was obtained from medical records, and risk and demographic information was obtained from personal interviews. In this cohort, 28 (12.4%) women were BRCA mutation carriers and among these carriers, 39.3% were BRCA1 and 60.7% were BRCA2 mutations. Mutation carriers were more likely to have a familial history of breast and ovarian cancer, high-grade cancers, and triple negative (TN) cancers. Prevalence of TN was 48.3% in BRCA carriers and 25.6% in non-carriers and was 67.7% in BRCA1 and 35.3% in BRCA2 carriers. Estrogen receptor (ER) negative cancer was significantly associated with BRCA1 mutations, especially in those under 40 years of age. BRCA-related breast cancer in this Chinese population is associated with family history and adverse pathological/prognostic features, with BRCA2 mutations being more prevalent but BRCA1 carriers having more aggressive and TN cancers. Compared to Caucasian populations, prevalence of BRCA2 mutations and TN cancer in BRCA2 mutation carriers in Chinese population are elevated.
ABSTRACT
OBJECTIVES: To examine the presentation, workup, and surgical complications of substernal goitre. DESIGN: Retrospective study. SETTING: Regional hospital, Hong Kong. PATIENTS: Twenty-four mostly elderly patients (mean age, 60.1 years) who underwent thyroidectomy for substernal goitres between 2000 and 2003 (substernal goitres were defined as those having either a caudal mass transgressing the fourth thoracic vertebra or having more than 50% of their overall mass residing within the thorax). MAIN OUTCOME MEASURES: Symptoms, histopathological diagnoses, morbidities, and complications. RESULTS: Dyspnoea was the most common symptom (n=8, 33%). Three (12.5%) patients presented with acute airway obstruction; however, 13 (54.2%) were asymptomatic apart from the presence of cervical masses. Computed tomographic scans were performed on all but two patients. Malignancy was present in 12.6% of patients, or 16.8% if occult papillary carcinoma is included. Partial or full sternotomies were performed in two (8.3%) patients. Complications included recurrent laryngeal nerve injury (n=1, 2.7% of nerves at risk), transient hypoparathyroidism (n=2, 13.3% of patients at risk), haematoma (n=1, 2.7%), pneumonia (n=1, 2.7%), and wound infection (n=1, 2.7%). There was no operative mortality or permanent hypoparathyroidism. The complication rate was significantly lower in the asymptomatic patients (P=0.033 by Fisher's exact test); clinicopathological parameters were otherwise statistically comparable between the two groups. CONCLUSIONS: There is rarely any mortality in thyroidectomy for substernal goitre, and the morbidity is also very low, especially in asymptomatic patients. In the absence of contra-indications, substernal goitre should be treated with early surgery rather than having it run the risk of acute airway distress or cancer.
