2015
DOI: 10.1093/jnci/djv279
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Abstract: Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.

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Cited by 150 publications
(139 citation statements)
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References 33 publications
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“…An increased risk of lung cancer was seen even in distant relatives; the high proportion of non-smoking lung cancer cases (31%) and a large proportion of missing data on smoking status (which was assessed through the death certificate and not prospectively) calls for replication in other populations. A recent large meta-analysis yielded an array-based heritability estimate for lung cancer of 21% (95% CI 14% to 27%) 42. This is somewhat smaller than our overall twin estimates suggesting that much of the genetic liability to lung cancer is attributable to common variants, but other genetic effects may exist.…”
Section: Discussioncontrasting
confidence: 78%
“…An increased risk of lung cancer was seen even in distant relatives; the high proportion of non-smoking lung cancer cases (31%) and a large proportion of missing data on smoking status (which was assessed through the death certificate and not prospectively) calls for replication in other populations. A recent large meta-analysis yielded an array-based heritability estimate for lung cancer of 21% (95% CI 14% to 27%) 42. This is somewhat smaller than our overall twin estimates suggesting that much of the genetic liability to lung cancer is attributable to common variants, but other genetic effects may exist.…”
Section: Discussioncontrasting
confidence: 78%
“…60,61 Moreover, studies from colorectal carcinoma showed that patients with impaired mismatch repair (MMR) respond better to the anti-PD-1 therapy. 62 Although the mechanisms responsible for this relation are not clear, it is hypothesized that the improved responsiveness to immunotherapy is caused by an increase in the number of neoantigens as a result of the higher mutational load associated with the impaired MMR. 25,63 Aberrant SHM as well as mutations in the MMR pathway contribute to an increase of the mutation load in DLBCL.…”
Section: Discussionmentioning
confidence: 99%
“…Recent data have suggested that up to 22% of patients with bladder cancer have germline mutations in previously identified genes related to cancer (16). A recent genome-wide association study investigating single nucleotide polymorphisms (SNPs) in cancers has estimated the familial relative risk in bladder cancer to be 1.37 due to SNPs known to be heritable (18). They also found that very little of the risk could be attributed to loci currently recognized by the National Human Genome Research Institute to be associated with bladder cancer.…”
Section: Discussionmentioning
confidence: 99%