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Spectrum of PALB2 germline mutations and characteristics of PALB2 ‐related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next‐generation sequencing

Authors
  • Zhou, Jiaojiao1, 1
  • Wang, Honglian2
  • Fu, Fangmeng3
  • Li, Zhanwen4
  • Feng, Qingjian5
  • Wu, Weizhu6
  • Liu, Yun7, 7
  • Wang, Chuan3
  • Chen, Yiding1, 1
  • 1 Zhejiang University School of Medicine, China , (China)
  • 2 AITA Biomedical Research Institute, China , (China)
  • 3 Fujian Medical University, China , (China)
  • 4 Women and Children's Hospital of Ningbo, China , (China)
  • 5 Yiwu Maternity and Child Care Hospital, China , (China)
  • 6 Li Huili Eastern Hospital, China , (China)
  • 7 Fudan University, China , (China)
Type
Published Article
Journal
Cancer
Publisher
Wiley (John Wiley & Sons)
Publication Date
Apr 27, 2020
Volume
126
Issue
14
Pages
3202–3208
Identifiers
DOI: 10.1002/cncr.32905
PMID: 32339256
PMCID: PMC7384117
Source
PubMed Central
Keywords
License
Unknown
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Abstract

This study reveals a comprehensive spectrum of PALB2 germline mutations and characteristics of PALB2 ‐related breast cancer, including the PALB2 ‐related breast cancer risk and distinctive clinical characteristics. Clinically, this study will provide solid evidence for the genetic counseling of patients with breast cancer and healthy women with PALB2 germline mutations, especially in the Chinese population and among those with Chinese ethnicities worldwide.

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