Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

BMJ case reports - 11 Nov 2022

Budurlean Laura, Baker Maria, Broach James

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Breast Neoplasms
Share to Exome Sequencing
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 36368728
DOI: 10.1136/bcr-2022-251336
PMCID: PMC9660511

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.PMID 36368728Read ↗

Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.Semantic proximity Read ↗

Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer.Semantic proximity Read ↗

Prevalence and Distribution of Unexpected Actionable Germline Pathogenic Variants Identified on Broad-Based Multigene Panel Testing Among Patients With Cancer.Semantic proximity Read ↗

Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast CancerSemantic proximity Read ↗

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genesSemantic proximity Read ↗

Germline Mutations in Predisposition Genes in Pediatric CancerSemantic proximity Read ↗

Exome-based cancer driver gene comprehensive testing can provide a genetic diagnosis for individuals with triple-negative breast cancer.Semantic proximity Read ↗

Clinically Relevant Germline Mutations in a Cohort of Young Women with Breast Cancer: A Comprehensive Analysis of Hereditary-Cancer Genes from Whole-Exome SequencingSemantic proximity Read ↗

A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery.Semantic proximity Read ↗

Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.Semantic proximity Read ↗

Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.Semantic proximity Read ↗

Broad germline variant spectrum revealed by whole-exome sequencing in an underrepresented Latin American population with hereditary breast cancer.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.