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

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Scientific reports - 27 Dec 2019

Jarhelle Elisabeth, Riise Stensland Hilde Monica Frostad, Hansen Geir Åsmund Myge, Skarsfjord Siri, Jonsrud Christoffer, Ingebrigtsen Monica, Strømsvik Nina, Van Ghelue Marijke

Abstract excerpt

Families with breast and ovarian cancer are often tested for disease associated sequence variants in BRCA1 and BRCA2. Pathogenic sequence variants (PVs) in these two genes are known to increase breast and ovarian cancer risks in females. However, in most families no PVs are detected in these two genes. Currently, several studies have identified other genes involved in hereditary breast and ovarian cancer (HBOC)....

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Biomarkers, Tumor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to BRCA1 Protein

Share to BRCA2 Protein

Share to Genetic Association Studies

Share to Germ-Line Mutation

Share to Hereditary Breast and Ovarian Cancer Syndrome

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 31882575
DOI: 10.1038/s41598-019-55515-x
PMCID: PMC6934654

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.PMID 31882575Read ↗

Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing.Semantic proximity Read ↗

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.Semantic proximity Read ↗

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.Semantic proximity Read ↗

Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.Semantic proximity Read ↗

Prevalence of germline variants in consensus moderate-to-high-risk predisposition genes to hereditary breast and ovarian cancer in BRCA1/2-negative Brazilian patients.Semantic proximity Read ↗

The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.Semantic proximity Read ↗

Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.Semantic proximity Read ↗

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.Semantic proximity Read ↗

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 PatientsSemantic proximity Read ↗

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.Semantic proximity Read ↗

Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.Semantic proximity Read ↗

Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.Semantic proximity Read ↗

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