PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.

BACKGROUND: Germline mutations in PALB2 gene make a small contribution to heritable breast cancer susceptibility. A recent report has revealed that women with mutations in the PALB2 gene were more than nine times as likely to develop breast cancer compared to those without. The aim of this study is to understand the status of PALB2 mutations among Chinese high-risk breast cancer patients in a multi-ethnic region in China. METHODS: 152 patients with hereditary predisposition to breast cancer from the Xinjing region of China were enrolled in the study, and 100 control samples from healthy women were collected in the same locality. We sequenced the coding sequences and flanking intronic regions of PALB2 gene from DNA samples obtained from all subjects by direct sequencing. RESULTS: A total of 4 deleterious PALB2 mutations were identified in 152 breast cancer patients with a prevalence of about 2.6 % (4/152). The PALB2 mutation prevalence was 3.2 % (3/95) in cases with family history of breast cancer. In addition to the four deleterious mutations, we identified nine missense variants in 12 patients, using the prediction Softwares SIFT and PolyPhen, four of which might be disease associated (in 5 patients). Two of the 4 patients with deleterious mutations and 2 of the 5 patients presenting putative deleterious missense mutations had triple-negative breast cancer. No PALB2 mutation carriers were identified in 100 healthy controls. CONCLUSION: PALB2 mutations account for a small, but not negligible, proportion of patients with hereditary predisposition to breast cancer in the Xinjing region of China.

[Comparative analysis on risk factors of axillary lymph node metastasis in Uygur and Han patients with breast cancer].

OBJECTIVE: To comparatively explore the risk factors of axillary lymph node metastasis (ALNM) in Uygur and Han patients with breast cancer. METHODS: A total of 243 female Han patients and 66 Uygur ones with T(1) stage breast cancer were retrospectively studied by single and multi-factorial Logistic regression analysis. RESULTS: The rates of ALNM were 43.94% and 30.86% in Uygur and Han patients respectively. There was statistic difference between them. Statistic differences existed between these two nationals in gravidity and parity. Multi-Factorial Logistic regression analysis showed that age, gravidity and quadrant of tumor localized were the risk factors of ALNM while estrogen receptor (ER)(+) was the protective factor. CONCLUSIONS: The rate of ALNM in Uygur patients with T(1) stage breast cancer is higher than that in Han counterparts. More gravidity is an influencing factor. Younger age, more gravidity and location of tumor are the high risk factors for ALNM while ER(+) is the protective factor.