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).

• Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

  PMID 18557994 · PMC2481495 · Breast cancer research : BCR · 2008 · 8 claims · 8 setups

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  Mutation frequencies in ATM, BRIP1, PALB2 and CHEK2 are many times higher in women with strong breast cancer family history (familial cases) than in population controls.

  women familial finnish unselected germline international statistical

• 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

• 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

• TP53 mutations in ovarian carcinomas from sporadic cases and carriers of two distinct BRCA1 founder mutations; relation to age at diagnosis and survival.

  PMID 16229746 · PMC1276789 · BMC cancer · 2005 · 8 claims · 4 setups

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  Survival for BRCA1-familial ovarian cancer cases with TP53 mutations was not significantly different from familial cases without TP53 mutations (p=0.25, RR=1.64)

  ovarian sporadic paraffin-embedded mutation survival extraction

• Mosaicism in von Hippel-Lindau disease: an event important to recognize.

  PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups

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  The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.

  peripheral father's pcr proband dhplc sanger semiquantitative

• Prostate cancer genomics: towards a new understanding.

  PMID 19104501 · PMC2721916 · Nature reviews. Genetics · 2009 · 8 claims · 8 setups

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  Multiple GWAS have identified over a dozen replicated germline SNPs each associated with a modest increase in prostate cancer risk

  germline families african-american combined genome-wide linkage admixture

• Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

  PMID 18302728 · PMC2291454 · BMC medical genetics · 2008 · 8 claims · 8 setups

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  Functional assays of TSC1–TSC2 complex activity can distinguish pathogenic TSC2 mutations from rare polymorphisms when multiple variants segregate in one family

  hek immunoprecipitated tsc2 peripheral coimmunoprecipitation rheb s6k-t389

• Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers.

  PMID 18710587 · PMC2575529 · Breast cancer research : BCR · 2008 · 8 claims · 4 setups

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  Lifetime breast cancer risk estimates in BRCA1/2 mutation carriers vary widely (roughly 40% to >80%) depending on the study population and ascertainment method

  women first-degree brca2 families population-based standardized combined

• Transcriptome-wide analyses of piRNA binding sites suggest distinct mechanisms regulate piRNA binding and silencing in C. elegans.

  PMID 36737102 · PMC10158993 · RNA (New York, N.Y.) · 2023 · 8 claims · 7 setups

  Has reproduction · 88

  C. elegans piRNAs preferentially bind the coding regions (CDS) of target mRNAs in vivo, rather than 3' UTRs.

  elegans clash bioinformatic iclip

• Mutation analysis of the ATR gene in breast and ovarian cancer families.

  PMID 15987455 · PMC1175065 · Breast cancer research : BCR · 2005 · 8 claims · 5 setups

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  ATR mediates the DNA damage response by phosphorylating tumor suppressors such as p53, BRCA1 and CHK1, making it a plausible candidate breast/ovarian cancer susceptibility gene

  index atr variant mutation direct variant

• Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry.

  PMID 19034644 · PMC2728159 · Breast cancer research and treatment · 2009 · 7 claims · 5 setups

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  Family history of breast cancer is not associated with all-cause mortality after breast cancer diagnosis in women without a known germline BRCA1/BRCA2 mutation.

  women same breast structured cox germline

• Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

  PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups

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  Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.

  hispanic hmfs001 family genomic clinical echocardiography ophthalmologic

• Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

  PMID 19668597 · PMC2722712 · Molecular vision · 2009 · 7 claims · 4 setups

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  A heterozygous MYOC mutation c.1109C>T (P370L) in exon 3 cosegregates with disease, present in all 6 affected members and absent in asymptomatic members.

  genomic patients pcr clinical genomic

• Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer.

  PMID 16620376 · PMC1459869 · BMC cancer · 2006 · 8 claims · 3 setups

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  Somatic mtDNA mutations are frequent in esophageal cancer, found in 55% (11/20) of tumors analyzed

  paired fragments ttge direct real-time

• IgVH genes from different anatomical regions, with different histopathological patterns, of a rheumatoid arthritis patient suggest cyclic re-entry of mature synovial B-cells in the hypermutation process.

  PMID 11056671 · PMC17813 · Arthritis research · 2000 · 8 claims · 5 setups

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  Somatically mutated IgVH genes with amino acid deletions and mixed IgV molecules were found in all three anatomical regions, suggesting a novel pathway for generating (auto)antibody specificities

  synovial same cryosections formalin-fixed cdna seminested double

• B lymphocyte involvement in ankylosing spondylitis: the heavy chain variable segment gene repertoire of B lymphocytes from germinal center-like foci in the synovial membrane indicates antigen selection.

  PMID 11299060 · PMC30712 · Arthritis research · 2001 · 8 claims · 4 setups

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  70 rearranged heavy chain VH genes from AS synovial membrane were characterized; 59 were potentially functional

  frozen lymphocytes microdissected pcr double microdissection semi-nested

• The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

  PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

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  The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers

  peripheral brca1 same simulated fluorescent cox weighted

• Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.

  PMID 18763667 · PMC3696193 · Connecticut medicine · 2008 · 8 claims · 6 setups

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  Combined CYP2C9 and VKORC1 genotype can explain up to 45% of warfarin dose variability

  genomic edta plasma cardiac genotyping extraction inr

• Design and analysis issues in genome-wide somatic mutation studies of cancer.

  PMID 18692126 · PMC2820387 · Genomics · 2009 · 6 claims · 4 setups

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  Two-stage (discovery + validation) sequencing designs efficiently allocate resources and can produce highly informative candidate driver gene lists even with relatively small sample sizes.

  hypothetical panel colorectal germline simulation targeted genome-wide

• 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

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  SPINK1 N34S is strongly associated with chronic pancreatitis overall

  chronic alcoholic idiopathic tropical meta-analysis genotyping publication