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).

• ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.

  PMID 18416817 · PMC2377272 · BMC cancer · 2008 · 8 claims · 7 setups

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  Five genes (NQO1, ATBF1, DBNDD1, HSBP1, CGI-38) at 16q show significantly lower mRNA expression in breast tumors with LOH at 16q compared to tumors without LOH

  ductal same sporadic paired cdna quantitative genotyping

• 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

• 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

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

  peripheral tumor sscp somatic loss

• 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

• Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.

  PMID 16707008 · PMC1483898 · BMC cancer · 2006 · 6 claims · 4 setups

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  Somatic VHL gene alterations (LOH and mutation) may contribute to pathogenesis of MEN2A-associated MTC, similar to their role in MEN2 pheochromocytoma

  microdissected same genomic frozen microsatellite loss vhl

• Mutational analysis of BRCA1 gene in ovarian and breast-ovarian cancer families in Japan.

  PMID 9197534 · PMC5921420 · Japanese journal of cancer research : Gann · 1997 · 5 claims · 2 setups

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  Germline BRCA1 mutations were detected in 7 of 19 Japanese cancer families (4 breast-ovarian, 3 site-specific ovarian)

  genomic tumor single-strand loss

• 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

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  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

• 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

• Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.

  PMID 10584868 · PMC2374316 · British journal of cancer · 1999 · 8 claims · 5 setups

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  LOH at chromosome 16q21-q22.1 occurs in 100% of informative lobular breast tumours, the highest frequency of any region tested

  lobular pcr loh loh pcr-sscp sequencing

• Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

  PMID 18087273 · PMC2361463 · British journal of cancer · 2008 · 8 claims · 5 setups

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  The malignant brain tumours in patients III-1, III-3, and III-4, originally classified as anaplastic ependymomas, are in fact atypical teratoid/rhabdoid tumours (AT/RT)

  constitutional formalin-fixed tumour blood sanger denaturing immunohistochemistry

• A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

  PMID 18628483 · PMC2561321 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 6 claims · 7 setups

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  A novel heterozygous BRIP1 germline mutation (c.2992-2995delAAGA) was identified in a breast cancer patient, causing a frameshift and premature stop codon in exon 20.

  genomic laser-capture cell-free hela sscp loss transcription

• 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

• Genomic analysis of the clonal origins of relapsed acute lymphoblastic leukemia.

  PMID 19039135 · PMC2746051 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups

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  Diagnosis and relapse ALL samples show different patterns of CNAs, with relapse-acquired abnormalities preferentially affecting cell cycle regulation and B-cell development genes

  matched bone leukemia diagnosis snp flow quantitative

• Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.

  PMID 16961930 · PMC1570477 · Molecular cancer · 2006 · 8 claims · 6 setups

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  Somatic deletion of the maternal NF1 allele occurred in the melanoma of an NF1 patient, demonstrating biallelic NF1 inactivation.

  peripheral microdissected formalin-fixed microsatellite conventional digital

• BCoR-L1 variation and breast cancer.

  PMID 17697391 · PMC2206730 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

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  BCoR-L1 expression does not play a large role in predisposition to familial breast cancer

  genomic aberrant lymphoblastoid mouse-human dhplc sanger qrt-pcr

• FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q).

  PMID 19758696 · PMC2826525 · Leukemia research · 2010 · 7 claims · 4 setups

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  MC, FISH, and SNP-A are complementary techniques whose combined use improves diagnostic yield for detecting del(5q), -7/del(7q), trisomy 8, and del(20q) in MDS

  bone pellets extracted cd3+ metaphase fluorescence snp

• Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.

  PMID 18992264 · PMC2682550 · Mutation research · 2009 · 8 claims · 8 setups

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  A combined functional assay, bioinformatics prediction, and structural modeling approach can classify BRCA1 variants of uncertain significance

  saccharomyces cerevisiae hek-293t yeast yeast β-galactosidase dual