Evidence map›Paper›PMID 24152768›Full record

ArticleJournal of human genetics2014

Genetic risk transmission in a family affected by familial breast cancer.

Brunella Pilato, Simona De Summa, Katia Danza, Rosanna Lacalamita, Rossana Lambo, Domenico Sambiasi, Angelo Paradiso, Stefania Tommasi

Open access · bronzeAbstract read
PubMed Publisher
In one paragraph

Article in Journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 26% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 2 institutions in 1 country.

Brunella PilatoIRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
Simona De SummaIRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
Katia DanzaIRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
Rosanna LacalamitaIRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
Rossana LamboIRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
Domenico SambiasiIRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
Angelo ParadisoIRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
Stefania TommasiIRCCS National Cancer Centre "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
Istituti di Ricovero e Cura a Carattere Scientifico · ITIstituto Tumori Bari · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Breast Cancer is the most common malignancy among women. Family history is the strongest single predictor of breast cancer risk, and thus great attention has been focused on BRCA1 and BRCA2 genes whose mutations lead to a high risk of developing this disease. Today, only 25% of high- and moderate-risk genes are known, suggesting the importance of the discovery of new risk modifiers. Therefore, the investigation of new polygenic alterations is of great importance, especially if considered high- and moderate-risk variants. In this study, the transmission of BRCA1-2 polymorphisms in association with the transmission of polymorphisms in the genes NUMA1, CCND1, COX11, FGFR2, TNRC9 and SLC4A7 were examined in all members of a family with the BRCA2 c.6447_6448dup mutation. This is the first study about the transmission of high-risk polygenic variants in all members of a family with a strong history of breast cancer. The results about the possible polygenic variant associations that could increase and modify the risk suggested the importance to search new variants to better manage patients and their family members.

Indexed as

Genetic Predisposition to DiseaseInheritance PatternsAdultAllelesAntigens, NuclearApoptosis Regulatory ProteinsBreast NeoplasmsCell Cycle ProteinsCopper Transport ProteinsCyclin D1Electron Transport Chain Complex ProteinsElectron Transport Complex IVFemaleGenes, BRCA1Genes, BRCA2HaplotypesAntigens, NuclearApoptosis Regulatory ProteinsCell Cycle ProteinsCopper Transport ProteinsCOX11 protein, humanCyclin D1Electron Transport Chain Complex ProteinsElectron Transport Complex IVHigh Mobility Group ProteinsMitochondrial ProteinsNuclear Matrix-Associated ProteinsNUMA1 protein, humanReceptor, Fibroblast Growth Factor, Type 2Receptors, ProgesteroneTOX3 protein, humanTrans-Activators

Identifiers

PMID24152768
OpenAlexW1977267248

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.