Ahead of Print article withdrawn by publisher.

ABSTRACT. Mutations in the BRCA1/2 genes are associated with an increased risk of breast cancer, but no large-scale research have examined the BRCA1/2 mutations in Chinese Kazakh women. We evaluated the frequency and distributions of BRCA1 and BRCA2 gene mutations in Kazakh sporadic breast cancer patients and healthy women in China. The association between the clinical-pathologic features of Kazakh breast cancer patients and BRCA1/2 mutations were also investigated. Two unclassified variants (T539M and T1915M) and 16 polymorphisms were detected in this study, 4 of which (G356A, His743, Asn991Asp, Val1269) were detected more frequently in breast cancer patients than in healthy controls. We observed a higher prevalence of BRCA1/2 common sequence alterations and a large number of Kazakh women carrying multiple coexisting BRCA1/2 mutations. The prevalence of BRCA1 mutations was similar to that of BRCA2 mutations. Although no significant differences were observed, BRCA1/2 carriers were generally younger at diagnosis (2015) of wild-type breast cancer patients. BRCA1-associated Kazakh sporadic breast cancers present with high tumor grade, early stage, negative lymph node status, absence of estrogen receptor expression and progesteronepositive status. Estrogen receptor expression was the only predominant histological type in BRCA2 carriers. In this study, we determined the BRCA1 and BRCA2 gene mutation status and determined the association with clinical-pathologic characteristics in a Chinese Kazakh population. Larger population-based screening studies screening the entire coding region of BRCA1/2 are required to evaluate the breast cancer risk induced by the sequence alterations detected in this study.

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Gigantomastia is a particular abnormal physical condition of the breast connective tissues, which cannot seen very often. Gigantomastia is often associated with pregnancy and characterized by a diffuse, disproportionate and excessive growth of both breasts in many cases. It can generate both physical and psychosocial disabling to the patient. The etiology is not entirely understood, although hormonal changes during pregnancy are assumed responsible for this medical condition. Since the pathology of this disease is extremely rare and has seldom been described, this report present a case of 37-years-old woman in her seven months pregnancy with a bilateral gestational gigantomastia associated with breast lumps. This report follows the patient from her primary diagnosis until the completion of final treatment.