Common genetic variants contribute to incomplete penetrance: evidence from cancer-free BRCA1 mutation carriers

The presence of pathogenic germline mutation in BRCA1 gene is considered as the most penetrant genetic predisposition for breast cancer. However, a portion of BRCA1 mutation carriers never develops breast cancer throughout their lifetime. This phenomenon is called incomplete penetrance. Genetic fact...

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Veröffentlicht in:	European journal of cancer (1990) 2019-01, Vol.107, p.68-78
Hauptverfasser:	Downs, Bradley, Sherman, Simon, Cui, Jian, Kim, Yeong C., Snyder, Carrie, Christensen, Maria, Luo, Jiangtao, Lynch, Henry, Wang, San Ming
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged BRCA1 BRCA1 Protein - genetics Breast cancer Breast Neoplasms - genetics Cancer resistance Exome Female Follow-Up Studies Genetic Predisposition to Disease Germ-Line Mutation Heterozygote Humans Middle Aged Penetrance Polymorphism, Single Nucleotide Prognosis Risk Factors Variation
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