ArticlePLoS genetics2016
Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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
18 citing papers in PubMed, 25 citations in OpenAlex.
- Differential sensitivity of MCPH1- and BRCA2-deficient cancer cells to PARP-1 inhibition.PloS one · 2026Article
- Threonine and tyrosine kinase (TTK) mRNA and protein expression in breast cancer; prognostic significance in the neoadjuvant setting.Histopathology · 2025Article
- Population-based study of recurrent DNA damage response gene variants in breast cancer cases.Breast cancer research and treatment · 2025Article
- Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.PLoS genetics · 2023Article
- Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.Familial cancer · 2023Article
- The emerging role of MCPH1/BRIT1 in carcinogenesis.Frontiers in oncology · 2023Review
- Multifaceted Microcephaly-Related Gene MCPH1.Cells · 2022Review
- Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.International journal of cancer · 2019Article
- Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly.International journal of cancer · 2019Article
- Phosphorylation of MCPH1 isoforms during mitosis followed by isoform-specific degradation by APC/C-CDH1.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Deleterious Mutations in DNA Repair GeneFrontiers in oncology · 2019Article
- Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.Journal of cancer research and clinical oncology · 2018Article
- STIL balancing primary microcephaly and cancer.Cell death & disease · 2018Review
- Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.Frontiers in genetics · 2018Article
- FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population.Breast cancer research and treatment · 2017Article
- Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.Scientific reports · 2017Article
- PIK3CA mutations are common in lobular carcinoma in situ, but are not a biomarker of progression.Breast cancer research : BCR · 2017Article
- rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk.Scientific reports · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast cancer is strongly influenced by hereditary risk factors, a majority of which still remain unknown. Here, we performed a targeted next-generation sequencing of 796 genes implicated in DNA repair in 189 Finnish breast cancer cases with indication of hereditary disease susceptibility and focused the analysis on protein truncating mutations. A recurrent heterozygous mutation (c.904_916del, p.Arg304ValfsTer3) was identified in early DNA damage response gene, MCPH1, significantly associating with breast cancer susceptibility both in familial (5/145, 3.4%, P = 0.003, OR 8.3) and unselected cases (16/1150, 1.4%, P = 0.016, OR 3.3). A total of 21 mutation positive families were identified, of which one-third exhibited also brain tumors and/or sarcomas (P = 0.0007). Mutation carriers exhibited significant increase in genomic instability assessed by cytogenetic analysis for spontaneous chromosomal rearrangements in peripheral blood lymphocytes (P = 0.0007), suggesting an effect for MCPH1 haploinsufficiency on cancer susceptibility. Furthermore, 40% of the mutation carrier tumors exhibited loss of the wild-type allele. These findings collectively provide strong evidence for MCHP1 being a novel breast cancer susceptibility gene, which warrants further investigations in other populations.
Indexed as
Identifiers
What OpenQuestion holds
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.