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).

• Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis.

  PMID 18298804 · PMC2266761 · BMC cancer · 2008 · 8 claims · 3 setups

  Full-text index only

  HRM correctly detects and distinguishes the three Ashkenazi Jewish BRCA1/BRCA2 founder mutations (185delAG, 5382insC, 6174delT) from wild type

  peripheral high

• 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

  Full-text index only

  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

• 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

  Full-text index only

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

  peripheral brca1 same simulated fluorescent cox weighted

• Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.

  PMID 17010193 · PMC1599749 · BMC cancer · 2006 · 8 claims · 4 setups

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  No germline deleterious mutations were identified in the ATR coding region among 54 non-BRCA1/2 high-risk French Canadian breast cancer cases.

  genomic ebv-transformed normal direct linkage rt-pcr

• Cognitive and emotional factors predicting decisional conflict among high-risk breast cancer survivors who receive uninformative BRCA1/2 results.

  PMID 19751083 · PMC3510002 · Health psychology : official journal of the Division of Health Psychology, American Psychological Association · 2009 · 8 claims · 8 setups

  Full-text index only

  High-risk breast cancer survivors who receive uninformative BRCA1/2 results show four distinct patterns of decision making about breast cancer risk management, based on timing and stability of decision status across 1-, 6-, and 12-month post-disclosure assessments

  high-risk decisional single-item brief

• Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

  PMID 10188893 · PMC2362698 · British journal of cancer · 1999 · 7 claims · 7 setups

  Full-text index only

  Presence of at least one ovarian cancer case in a small family strongly predicts finding a BRCA1 or BRCA2 mutation.

  genomic pcr family truncation pcr multiplex

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

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

  Full-text index only

  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

• Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.

  PMID 26538066 · PMC4634735 · BMC medical genomics · 2015 · 8 claims · 7 setups

  Has reproduction · 83

  A multigene expression biomarker from PBMCs accurately classifies familial breast cancer (FBC) status

  pbmcs utah blood normal microarray svm-rfe svm

• Iterative class discovery and feature selection using Minimal Spanning Trees.

  PMID 15355552 · PMC520744 · BMC bioinformatics · 2004 · 7 claims · 5 setups

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  Iterating between MST-based clustering and t-statistic feature selection removes noise genes step-wise while sharpening the sample clustering

  simulated breast acute diffuse synthetic cdna microarray

• Development of a Premature Stop Codon-detection method based on a bacterial two-hybrid system.

  PMID 16948859 · PMC1569827 · BMC biotechnology · 2006 · 7 claims · 7 setups

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  pREAL, fusing cya fragments T25 and T18 around a cloning site, produces catalytically active adenylate cyclase only when the inserted human DNA lacks a PSC

  coli brca1 colony bth102 bacterial mutagenic heterozygosity

• 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

• 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

• Nursing advocacy in a postgenomic age.

  PMID 19850180 · PMC2766592 · The Nursing clinics of North America · 2009 · 8 claims · 3 setups

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  Nurses need genetics/genomics competency (knowledge, reasoning, and action) to be effective patient advocates in the post-genomic era

  young individuals registered qualitative expert

• Evaluation of the Available Variant Calling Tools for Oxford Nanopore Sequencing in Breast Cancer.

  PMID 36140751 · PMC9498802 · Genes · 2022 · 7 claims · 6 setups

  Has reproduction · 51

  Clair3 and Human-SNP-wf (which incorporates Clair3) achieved the highest performance among the six variant callers tested.

  giab hg001 brca1 filtered long-read read bam

• The diagnosis and management of pre-invasive breast disease: promise of new technologies in understanding pre-invasive breast lesions.

  PMID 14580250 · PMC314415 · Breast cancer research : BCR · 2003 · 8 claims · 8 setups

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  ADH and ductal carcinoma in situ (DCIS) are precursor lesions molecularly similar to adjacent invasive breast cancer

  locally adh brca1 malignant array chromosome-based cdna

• ATM variants and cancer risk in breast cancer patients from Southern Finland.

  PMID 16914028 · PMC1592307 · BMC cancer · 2006 · 8 claims · 6 setups

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  Neither 5557G>A nor ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk in any patient group

  familial brca1 same genotype genotyping denaturing direct

• 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

  Full-text index only

  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

• In silico analysis of missense substitutions using sequence-alignment based methods.

  PMID 18951440 · PMC3431198 · Human mutation · 2008 · 8 claims · 7 setups

  Full-text index only

  Carefully validated PMSA-based computational algorithms can achieve predictive values of ~75-95% for classifying missense substitutions as pathogenic or neutral.

  clinically sequence curated deep blosum62 sift align-gvgd

• Lightweight genome viewer: portable software for browsing genomics data in its chromosomal context.

  PMID 17877794 · PMC2238324 · BMC bioinformatics · 2007 · 7 claims · 7 setups

  Full-text index only

  lwgv provides a lightweight alternative to large genome browsers for visualizing biological annotations and dynamic analyses without requiring a database or complex software infrastructure

  chromosome user-submitted hannon-elledge gene linkage rnai shrna