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

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.

Human mutation - 1 Sept 2020

Fortuno Cristina, Mester Jessica, Pesaran Tina, Weitzel Jeffrey N, Dolinsky Jill, Yussuf Amal, McGoldrick Kelly, Garber Judy E, Savage Sharon A, Khincha Payal P, Gareth Evans D, Achatz Maria Isabel, Nichols Kim E, Maxwell Kara N, Schiffman Joshua D, Sandoval Renata, James Paul A, Spurdle Amanda B

Abstract excerpt

Early onset breast cancer is the most common malignancy in women with Li-Fraumeni syndrome, caused by germline TP53 pathogenic variants. It has repeatedly been suggested that breast tumors from TP53 carriers are more likely to be HER2+ than those of noncarriers, but this information has not been incorporated into variant interpretation models for TP53. Breast tumor pathology is already being used quantitatively...

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 Erb-b2 Receptor Tyrosine Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to TP53 gene

Share to Germ-Line Mutation

Share to Guidelines as Topic

Share to Phenotype

Share to Tumor Suppressor Protein p53

Source

Open in PubMed Open full text

Identifiers

PMID: 32485079
DOI: 10.1002/humu.24060
PMCID: PMC7484289

Genes

TP53

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

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.PMID 32485079Read ↗

Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variantsSemantic proximity Read ↗

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.Semantic proximity Read ↗

Early onset HER2-positive breast cancer is associated with germline TP53 mutations.Semantic proximity Read ↗

Genotypic and Phenotypic Characteristics of Germline TP53 Variant Carriers: Experience from Two Cancer Genetic Counseling UnitsSemantic proximity Read ↗

The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer.Semantic proximity Read ↗

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.Semantic proximity Read ↗

Genotypic and phenotypic characteristics of germline TP53 variant carriers: experience from two cancer genetic counseling units.Semantic proximity Read ↗

An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.Semantic proximity Read ↗

Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndromeSemantic proximity Read ↗

Apparently "BRCA-related" breast and ovarian cancer patient with germline TP53 mutation.Semantic proximity Read ↗

Germline TP53 pathogenic variants and breast cancer: A narrative review.Semantic proximity Read ↗

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohortSemantic proximity Read ↗

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