Evidence map›Paper›PMID 36368728›Full record

ArticleBMJ case reports2022

Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.

Laura Budurlean, Maria Baker, James Broach

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 37% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

3 authors at 1 institution in 1 country.

Laura BudurleanBiochemistry & Molecular Biology, Penn State College of Medicine, Hershey, Pennsylvania, USA.ORCID http://orcid.org/0000-0003-0652-7180
Maria BakerPenn State Health Milton S Hershey Medical Center, Hershey, Pennsylvania, USA mbaker@pennstatehealth.psu.edu.
James BroachBiochemistry & Molecular Biology, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Penn State Milton S. Hershey Medical Center · US

Funding

Penn State Biomedical Big Data to Knowledge (B2D2K) Training ProgramT32LM012415 · NLM · PENNSYLVANIA STATE UNIVERSITY, THE · PI BROACH, JAMES R., HONAVAR, VASANT G. · 2016 to 2020
$1.2M
NLM NIH HHS T32 LM012415
6 · The paper itself

Abstract

We present a case of unexplained familial breast cancer (BC) from six family members, including four affected and two unaffected women, for whom clinical genetic testing panels were inconclusive. Exome sequencing data revealed heterozygous and rare germline variants to be inherited in an autosomal dominant manner in the family, in addition to several unclassified mutations in DNA repair and cell cycle-regulating genes that were not included in the family's clinical genetic testing. A rare MYC-N11S germline mutation with conflicting interpretations of pathogenicity in the literature, and predicted to be deleterious, was present in all affected individuals. Whole exome sequencing provided a more comprehensive picture of inherited BC in this family that was missed by cancer gene panels alone.

Indexed as

Breast NeoplasmsGerm-Line MutationExome SequencingFemaleGenetic Predisposition to DiseaseHumansMutationPedigreeBreast cancerCancer interventionGeneticsGenetic screening / counselling

Identifiers

PMID36368728
PMCPMC9660511
OpenAlexW4308916355

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.