ArticleCold Spring Harbor molecular case studies2016
Homozygous inactivation of
Article in Cold Spring Harbor molecular case studies, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Potential genetic modifiers for somatic EGFR mutation in lung cancer: a meta-analysis and literature review.BMC cancer · 2019Pooled it
- Treatment strategies and outcomes in patients with synchronous multiple primary malignancies involving lung cancer.International journal of clinical oncology · 2026Article
- Differential Diagnosis of Solitary Pulmonary Nodules in Postoperative Pancreatic Cancer Patients Using KRAS Gene Mutation Analysis.Annals of surgical oncology · 2026Article
- Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?European journal of human genetics : EJHG · 2023Article
- Clinical and genomic features of non-small cell lung cancer occurring in families.Thoracic cancer · 2023Article
- A High Percentage of NSCLC With GermlineJTO clinical and research reports · 2022Article
- Identifying General Tumor and Specific Lung Cancer Biomarkers by Transcriptomic Analysis.Biology · 2022Article
- Myosin18B predicts favorable prognosis of cutaneous squamous-cell carcinoma.Genes & genomics · 2021Article
- Review
- Inherited lung cancer: a review.Ecancermedicalscience · 2020Review
- Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility.Oncology letters · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In clinical practice, there are a number of cancer patients with clear family histories, but the patients lack mutations in known familial cancer syndrome genes. Recent advances in genomic technologies have enhanced the possibility of identifying causative genes in such cases. Two siblings, an elder sister and a younger brother, were found to have multiple primary lung cancers at the age of 60. The former subsequently developed breast cancer and had a history of uterine myoma. The latter had initially developed prostate cancer at the age of 59 and had a history of colon cancer. Single-nucleotide polymorphism (SNP) genotyping revealed that ∼10% of the genomes were homozygous in both patients. Exome sequencing revealed nonsynonymous mutations in five genes in the runs of homozygosity:
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.