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.


CONCLUSIONS
PALB2 mutations account for a small, but not negligible, proportion of patients with hereditary predisposition to breast cancer in the Xinjing region of China.
Department of Breast Surgery, Cancer Hospital, Xinjiang Medical University, Urumqi, China. lyt1822@sina.com.
Yong Tao
YT
Li
Department of Breast Surgery, Cancer Hospital, Xinjiang Medical University, Urumqi, China. jiangweihua2010@126.com.
Wei Hua
WH
Jiang
Department of Breast Surgery, Cancer Hospital, Xinjiang Medical University, Urumqi, China. wxwzx123@sina.com.
Xiao Wen
XW
Wang
Department of Breast Surgery, Cancer Hospital, Xinjiang Medical University, Urumqi, China. doctorzhangmingshuai@163.com.
Ming Shuai
MS
Zhang
Department of Breast Surgery, Cancer Hospital, Xinjiang Medical University, Urumqi, China. liuheguang@163.com.
Cheng Guang
CG
Zhang
Department of Breast Surgery, Cancer Hospital, Xinjiang Medical University, Urumqi, China. nanazi@sina.com.
Li Na
LN
Yi
Department of Breast Surgery, Cancer Hospital, Xinjiang Medical University, Urumqi, China. fulatihao@163.com.
Fulati
F
WuwaliKhan
Department of Breast Surgery, Cancer Hospital, Xinjiang Medical University, Urumqi, China. doctoraisikaer@126.com.
Aisikaer
A
Ayoufu
Department of Breast Surgery, Cancer Hospital, Xinjiang Medical University, Urumqi, China. oujianghua@hotmail.com.|Cancer Hospital, Xinjiang Medical University, 789 Eeast Suzhou Street, Urumqi, 830011, China. oujianghua@hotmail.com.
Jiang Hua
JH
Ou
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China / Q000208:ethnology; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D000076164:Fanconi Anemia Complementation Group N Protein; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins