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

Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.

Genes - 15 Feb 2023

Hidalgo Mayoral Irene, Almeida Santiago Ainhoa, Sánchez-Zapardiel Jose Manuel, Hidalgo Calero Beatriz, de la Hoya Miguel, Gómez-Sanz Alicia, de Miguel Reyes Montserrat, Robles Luis

Abstract excerpt

Hereditary breast and ovarian cancer syndrome (HBOC) is a clinical entity characterized by an increased risk of developing breast and ovarian cancer. The genetic diagnosis is based on the identification of heterozygous germinal variants in HBOC susceptibility genes. However, it has recently been described that constitutional mosaic variants can contribute to the aetiology of HBOC. In constitutional mosaicism,...

Read the complete abstract on PubMed

Topics

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

Share to BRCA2 Protein
Share to Genes, BRCA2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hereditary Breast and Ovarian Cancer Syndrome

Share to Mosaicism

Share to Mutation

Share to Ovarian Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 36833429
DOI: 10.3390/genes14020502
PMCID: PMC9957471

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.PMID 36833429Read ↗

Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.Semantic proximity Read ↗

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.Semantic proximity Read ↗

Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesisSemantic proximity Read ↗

Somatic mosaicism: implications for disease and transmission genetics.Semantic proximity Read ↗

A genomic view of mosaicism and human disease.Semantic proximity Read ↗

Somatic mosaics in hereditary tumor predisposition syndromes.Semantic proximity Read ↗

Postzygotic mutations and where to find them - Recent advances and future implications in the field of non-neoplastic somatic mosaicism.Semantic proximity Read ↗

Detecting somatic mosaicism: considerations and clinical implications.Semantic proximity Read ↗

Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.Semantic proximity Read ↗

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.Semantic proximity Read ↗

Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies.Semantic proximity Read ↗

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.Semantic proximity Read ↗

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