Cancer Predisposition Genes in Cancer-Free Families.
作者： Guoqiao Zheng , Calogerina Catalano , Obul Reddy Bandapalli , Nagarajan Paramasivam , Subhayan Chattopadhyay
关键词: Cancer predisposition 、 Biology 、 Gene 、 Absolute risk reduction 、 Cancer 、 Allele 、 Population 、 Genetics 、 Allele frequency 、 Concordance
摘要: Familial clustering, twin concordance, and identification of high- low-penetrance cancer predisposition variants support the idea that there are families at a high to moderate excess risk cancer. To what extent may be protected from is unknown. We wanted test genetically whether cancer-free share fewer breast, colorectal, prostate alleles than population large. addressed this question by whole-genome sequencing (WGS) 51 elderly individuals whose numerous (ca. 1000) family members were found ('cancer-free families', CFFs) based on face-to-face interviews. The average coverage samples in WGS was 42x. compared allele frequencies with those general available public databases. CFF had loss-of-function suggested genes ExAC data, for high-risk genes, no pathogenic CFFs. For common alleles, results not conclusive. suggest that, line studies, random environmental causes so dominant clear demarcation populations using genetic data feasible.
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