Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations

Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations

Publication date: Jan 13, 2020

It is estimated that up to 10% of cancer incidents are attributed to inherited genetic alterations. Despite extensive research, there are still gaps in our understanding of genetic predisposition to cancer. It was theorized that ultra-rare variants partially account for the missing heritable component. We harness the UK BioBank dataset of ~500,000 individuals, 14% of which were diagnosed with cancer, to detect ultra-rare, possibly high-penetrance cancer predisposition variants. We report on 115 cancer-exclusive ultra-rare variations (CUVs) and nominate 26 variants with additional independent evidence as cancer predisposition variants. We conclude that population cohorts are valuable source for expanding the collection of novel cancer predisposition genes.

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Concepts Keywords
APC Representative kinship
Assembly Malignant neoplasm
ATM Breast cancer
Benin Genetic predisposition cancer
BioBank Individuals distinct neoplasms
BRCA1 Cancers
BRCA2 Individuals cancer
Breast TSG tumor
Breast Cancer Branches of biology
Cancer Evolutionary biology
Caucasian Molecular evolution
CDKN2A Mutation
Cohort Genetic variation
Computer Engineering Carcinogenesis
Control Group Genetic heterogeneity
CPGs Predisposition
CUV Genotyping
Endocrine Gland Stem cells
Exome Recombination
EXT2 ATM
Filtration Cloning
Frameshift Http
Gender DSP
Genetic
Genetic Predisposition
Genome
Genotyping
Germline
Hebrew
Heritability
Heritable
Heterozygous
High Penetrance
Homologous Recombination
Homozygous
Israel
Jerusalem
Leukemia
Ligand
Microtubule
Mis
Mismatch Repair
Missense
MLH1
MSH2
Mutation
Neoplasm
Neoplasms
NF1
NF2
Oncogenes
Partition
Pediatric
Penetrance
Perpetuity
Phosphatase
Prime
PTEN
RAS
RB1
RET
Somatic
Splicing
Statistical Power
Stomach
Thyroid
TP53
Transcription Factor
TSC2
Tumor Suppressor
Tumor Suppressor Gene
Tumor Suppressors
Tumorigenesis
Ubiquitin
VHL

Semantics

Type Source Name
disease MESH cancer

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