Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Mutation analysis of the MDM4 gene in German breast cancer patients.
PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups
Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients
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PALB2 variants in hereditary and unselected Finnish prostate cancer cases.
PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups
None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland
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Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.
PMID 11556835 · PMC2375072 · British journal of cancer · 2001 · 6 claims · 4 setups
MD-CFLP can detect DNA sequence alterations (single-base substitutions, small insertions/deletions) in BRCA1 fragments longer than 1 kb
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ATM variants and cancer risk in breast cancer patients from Southern Finland.
PMID 16914028 · PMC1592307 · BMC cancer · 2006 · 8 claims · 6 setups
Neither 5557G>A nor ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk in any patient group
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Somatic mutations of KIT in familial testicular germ cell tumours.
PMID 15150569 · PMC2410291 · British journal of cancer · 2004 · 6 claims · 3 setups
No germline KIT mutations were found in constitutional DNA from 240 familial TGCT pedigrees
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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups
A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T
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Recurrent KRAS codon 146 mutations in human colorectal cancer.
PMID 16969076 · PMC2714972 · Cancer biology & therapy · 2006 · 8 claims · 8 setups
KRAS A146 missense mutations are a recurrent, previously unrecognized class of somatic mutation in colorectal cancer
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Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.
PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups
BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK
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Risk of pancreatic cancer in families with Lynch syndrome.
PMID 19861671 · PMC4091624 · JAMA · 2009 · 7 claims · 3 setups
Families with germline MMR gene mutations (Lynch Syndrome) have an 8.6-fold increased risk of pancreatic cancer compared to the general U.S. population.
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Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.
PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups
MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors
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Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.
PMID 18414673 · PMC2289874 · PloS one · 2008 · 6 claims · 7 setups
SPINK1 N34S is strongly associated with chronic pancreatitis overall