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).

• Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families.

  PMID 9099970 · PMC2222784 · British journal of cancer · 1997 · 6 claims · 6 setups

  Full-text index only

  No germline TP53 mutations (exons 5-8) were found in 128 breast cancer patients from 109 families with familial cancer.

  genomic tumour paired constant restriction sequencing

• 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

  Full-text index only

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

  sporadic matched mutational

• Sex differences in cancer risk among germline p53 mutation carriers.

  PMID 15280910 · PMC2409855 · British journal of cancer · 2004 · 6 claims · 3 setups

  Full-text index only

  Cancer risk in germline p53 mutation carriers differs by sex, with females at higher risk than males in adulthood, was first reported by Chompret et al 2000, three years before a confirmatory study by Hwang et al 2003 claimed similar findings without citing the earlier work.

  children first-degree p53 germline family-based

• Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.

  PMID 18612690 · PMC2768068 · Diseases of the colon and rectum · 2008 · 7 claims · 4 setups

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  Germline missense APC alterations (S130G, E1317Q, D1822V, G2502S) identified in a CRC-multiple-polyp cohort do not confer significantly increased CRC risk when tested in a large population-based case-control series

  germline same population-based ofccr manual dhplc nuclease

• 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

  Full-text index only

  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

• Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.

  PMID 8613431 · PMC5921088 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 4 setups

  Full-text index only

  hMSH2 germline mutations were detected in 5 of 36 Japanese HNPCC kindreds (14%)

  peripheral tumor sscp somatic loss

• Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

  PMID 16764716 · PMC1586026 · BMC cancer · 2006 · 8 claims · 6 setups

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  The 9106C>T (Q2960X) and IVS16-2A>G BRCA2 mutations are recurrent in MBC families from North-East Italy and may reflect a founder effect.

  blood germline tumor family mutation mlpa microsatellite

• 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

• Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.

  PMID 17700570 · PMC2360390 · British journal of cancer · 2007 · 8 claims · 3 setups

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  Germline protein-truncating BRCA2 mutations confer an elevated relative risk (~7.8-fold) of early-onset prostate cancer in Caucasian men

  peripheral population-based same germline epidemiological genotype-phenotype

• 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

• 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

• Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.

  PMID 16280053 · PMC1410737 · Breast cancer research : BCR · 2005 · 8 claims · 8 setups

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  There is no evidence that highly penetrant exonic or splice site mutations in FANCD2, BRIP1/BACH1, LMO4 or SFN contribute to familial breast cancer

  germline lymphoblastoid dhplc sequencing rt-pcr

• Evaluation of models to predict BRCA germline mutations.

  PMID 17016486 · PMC2360540 · British journal of cancer · 2006 · 7 claims · 7 setups

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  Four commonly used BRCA risk prediction models (BRCAPRO, Manchester, Penn, Myriad-Frank) have only modest ability to rule in or rule out BRCA1/2 germline mutation carrier status at a 10% probability threshold.

  proband pedigrees randomly brca1 brcapro manchester

• Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

  PMID 16507150 · PMC1413975 · Breast cancer research : BCR · 2006 · 6 claims · 7 setups

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  kConFab is a collaborative resource providing epidemiological, clinical, and biospecimen data from high-risk familial breast/ovarian cancer families, available to researchers worldwide for ethically approved, peer-reviewed projects.

  germline unaffected index randomly brca1 tyrer-cuzick strp

• 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

• BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

  PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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  BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

  peripheral blood-derived folliculin chest direct subcloning sequence

• Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

  PMID 15528792 · PMC3839397 · Disease markers · 2004 · 8 claims · 4 setups

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  The ICG-HNPCC/INSiGHT mutation database has grown from 126 predisposing mutations (1997) to 448 mutations occurring in 748 families (2003 update)

  hnpcc tumor yeast families germline microsatellite functional

• 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

• 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

• 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