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Article

A Case Report: A Rare Casr Mutation Associated with HER2-Positive Breast Cancer.

Experimental oncology - 14 Jun 2026

Kitsera N, Shparyk Ya, Duda I, Mylyan Yu, Kunta N

Abstract excerpt

Although highly penetrant genes such as BRCA1, BRCA2, TP53, PALB2, CHEK2, and ATM are well known in hereditary breast cancer, genes with low penetrance may also contribute to the disease risk. The CASR (Calcium-Sensing Receptor) gene, located on chromosome 3q13.3-q21, encodes a G-protein-coupled receptor that regulates calcium homeostasis and parathyroid hormone secretion. here we describe the clinical course and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42290554
DOI: 10.15407/exp-oncology.2026.01.066

Genes

CASR
BRCA1
CHEK2
PALB2
ATM
BRCA2
TP53

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Case Report: A Rare Casr Mutation Associated with HER2-Positive Breast Cancer.PMID 42290554Read ↗

Genetic polymorphism of calcium-sensing receptor in women with breast cancer.Semantic proximity Read ↗

CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.Semantic proximity Read ↗

A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.Semantic proximity Read ↗

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).Semantic proximity Read ↗

Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications.Semantic proximity Read ↗

Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.Semantic proximity Read ↗

Is the CHEK2 Gene Able to Offer Platinum Sensitivity Despite Low Variant Allele Frequency? A Case Report and Review in LiteratureSemantic proximity Read ↗

A genetic polymorphism (rs17251221) in the calcium-sensing receptor is associated with breast cancer susceptibility and prognosis.Semantic proximity Read ↗

Polymorphisms in the calcium-sensing receptor gene are associated with clinical outcome of neuroblastoma.Semantic proximity Read ↗

Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.Semantic proximity Read ↗

Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.Semantic proximity Read ↗

A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.Semantic proximity Read ↗

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