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).

Publications 1.3k Datasets 392.5k Experiments 99

System / cell line: germline ✕ Assay: pcr ✕ Clear

Risk of pancreatic cancer in families with Lynch syndrome.

PMID 19861671 · PMC4091624 · JAMA · 2009 · 7 claims · 3 setups

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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.

individuals extracted same modified germline proportional
Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

PMID 10780518 · PMC2363369 · British journal of cancer · 2000 · 8 claims · 4 setups

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Germline mutations of STK11 were found in 5 of 10 Korean PJS patients screened

genomic pcr pcr-single-strand cloning pcr-sscp
A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome.

PMID 18495044 · PMC2430547 · BMC medical genetics · 2008 · 8 claims · 3 setups

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Germline mutation of STK11 is responsible for Peutz-Jeghers syndrome

peripheral chromosomes colonic pcr chromosome histopathological
Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

PMID 14735200 · PMC2409576 · British journal of cancer · 2004 · 8 claims · 2 setups

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Seven germline INK4a-ARF changes (five novel) were found in 7 of 89 patients (8%) suspected of genetic predisposition to melanoma.

genomic pcr real-time
Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome.

PMID 10389970 · PMC2363026 · British journal of cancer · 1999 · 6 claims · 2 setups

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No germline mutations were detected in CDKN2 (p16 or p19ARF) in any of the 16 TP53-negative LFS/LFL families tested

peripheral nested
Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

PMID 18803811 · PMC2556318 · BMC medical genetics · 2008 · 8 claims · 7 setups

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CDKN2A germline mutations were found in 7 of 25 (28.0%) Slovenian melanoma families

genomic relative p16ink4a pcr pearson student's
Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.

PMID 8609062 · PMC5921065 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 2 setups

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Mutations of hMLH1 or hMSH2 play only a limited role in the development of sporadic endometrial carcinomas.

sporadic matched mutational
Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.

PMID 11720476 · PMC2375261 · British journal of cancer · 2001 · 8 claims · 5 setups

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I1307K APC germline mutation carriers were identified in 28 of 307 (9.1%) unselected Israeli CRC patients

genomic pcr unselected i1307k mutation sequencing clinical
Low frequency of E-cadherin alterations in familial breast cancer.

PMID 11305955 · PMC30704 · Breast cancer research : BCR · 2001 · 8 claims · 5 setups

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No pathogenic germline E-cadherin mutations were found in 19 familial breast cancer patients whose tumours showed LOH at the E-cadherin locus

blood same tumour pcr-sscp denaturing somatic
A novel germline mutation of PTEN associated with brain tumours of multiple lineages.

PMID 12085208 · PMC2746590 · British journal of cancer · 2002 · 8 claims · 6 setups

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A novel heterozygous germline PTEN mutation (Arg234Gln, R234Q) was identified in a patient with glioma and prior meningioma

peripheral tumour u87mg baf3 pcr microsatellite proliferation
Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups

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Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded

genomic predicted archival mutation targeted functional
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups

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TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI

arci unrelated dog direct sequence blast
The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients.

PMID 11207040 · PMC2363769 · British journal of cancer · 2001 · 5 claims · 1 setups

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The carrier frequency of the three predominant Jewish BRCA1/2 mutations in unselected Ashkenazi CRC patients (1.78%) is similar to that reported in the general Ashkenazi population.

peripheral pcr-rflp
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

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Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients

genomic unaffected pcr targeted restriction
Ethnic differences and functional analysis of MET mutations in lung cancer.

PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups

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MET mutations identified in lung tumors are predominantly germline rather than somatic

tumor established recombinant cos-7 pcr elisa-based apoptosis
Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

PMID 10408842 · PMC2362327 · British journal of cancer · 1999 · 8 claims · 3 setups

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No mutations were found in the coding region of GDNF in any of the 36 brain tumours analysed

sporadic tumour tumour-derived pcr loss semi-quantitative
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

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MD-CFLP can detect DNA sequence alterations (single-base substitutions, small insertions/deletions) in BRCA1 fragments longer than 1 kb

brca1 direct pcr multiple-dye
Abnormality of the DNA double-strand-break checkpoint/repair genes, ATM, BRCA1 and TP53, in breast cancer is related to tumour grade.

PMID 15138484 · PMC2409464 · British journal of cancer · 2004 · 8 claims · 4 setups

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High-grade breast tumours show a high frequency of LOH and/or abnormal expression of ATM, BRCA1 and TP53

early-onset same peripheral breast allelotyping immunohistochemistry direct
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups

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Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma

peripheral genomic ebv-transformed conformation pira-pcr rt-pcr
No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.

PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups

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SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours

germline genomic identified individuals sequencing pcr mlpa

Experiments

Risk of pancreatic cancer in families with Lynch syndrome.

Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome.

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome.

Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.

Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.

Low frequency of E-cadherin alterations in familial breast cancer.

A novel germline mutation of PTEN associated with brain tumours of multiple lineages.

Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients.

Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

Ethnic differences and functional analysis of MET mutations in lung cancer.

Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.

Abnormality of the DNA double-strand-break checkpoint/repair genes, ATM, BRCA1 and TP53, in breast cancer is related to tumour grade.

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.