MUC1 and MUC4: Switching the Emphasis from Large to Small

Albrecht, Huguette; Carraway, Kermit L.

doi:10.1089/cbr.2011.1017

Cited by 40 publications

(33 citation statements)

References 45 publications

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“…This gene has been implicated in several other epithelial cancers of the gastrointestinal system, and remains an important possible target for further investigation [30–32]. There were mutations detected by VarScan2 that we were unable to verify by Sanger sequencing, due to tandem repeats or sequence homology, a difficulty encountered when sequencing several of the MUC genes [33].…”

Section: Discussionmentioning

confidence: 99%

The genomic landscape of fibrolamellar hepatocellular carcinoma: whole genome sequencing of ten patients

et al. 2015

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Fibrolamellar hepatocellular carcinoma is a rare, malignant liver tumor that often arises in the otherwise normal liver of adolescents and young adults. Previous studies have focused on biomarkers and comparisons to traditional hepatocellular carcinoma, and have yielded little data on the underlying pathophysiology. We performed whole genome sequencing on paired tumor and normal samples from 10 patients to identify recurrent mutations and structural variations that could predispose to oncogenesis. There are relatively few coding, somatic mutations in this cancer, putting it on the low end of the mutational spectrum. Aside from a previously described heterozygous deletion on chromosome 19 that encodes for a functional, chimeric protein, there were no other recurrent structural variations that contribute to the tumor genotype. The lack of a second-hit mutation in the genomic landscape of fibrolamellar hepatocellular carcinoma makes the DNAJB1-PRKACA fusion protein the best target for diagnostic and therapeutic advancements. The mutations, altered pathways and structural variants that characterized fibrolamellar hepatocellular carcinoma were distinct from those in hepatocellular carcinoma, further defining it as a distinct carcinoma.

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Section: Discussionmentioning

confidence: 99%

The genomic landscape of fibrolamellar hepatocellular carcinoma: whole genome sequencing of ten patients

et al. 2015

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“…It is expressed on most secretory epithelia, including mammary gland, and some hematopoietic cells [21] . CA125 (MUC-16) is well known as a marker of ovarian cancer.…”

Section: Discussionmentioning

confidence: 99%

Carbohydrate antigens as potential biomarkers for the malignancy in patients with idiopathic deep venous thrombosis: A retrospective cohort study

Wang

Abdalla

et al. 2014

J. Huazhong Univ. Sci. Technol. [Med. Sci.]

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A variety of biomarkers have been identified in recent prospective and retrospective reports as being potentially predictive of venous thromboembolis (VTE), particularly idiopathic deep venous thrombosis (IDVT). This study identified a serum tumor biomarker for early screening of IDVT. A total of 128 IDVT patients (54 females and 74 males; average age: 50.9±17.4 years) were included. Carcinoembryonic antigen (CEA), ferritin, β2-microglobulin, cancer antigen (CA) 125, CA 15-3, CA 19-9, squamous cell carcinoma antigen (SCC), alpha-fetoprotein (AFP), prostate specific antigen (PSA), free PSA (f-PSA), and beta-human chorionic gonadotropin (β-HCG) in patients with IDVT were detected. Malignancies were histo- or cytopathologically confirmed. Of the 128 IDVT patients, 16 (12.5%) were found to have malignancies. Serum CEA, CA 125, CA 15-3, and CA 19-9 were found to be helpful for detecting malignancies in IDVT patients. Our study revealed a positive association between these markers and tumors in IDVT patients. On the other hand, SCC and AFP were not sensitive enough to be markers for detecting tumors in patients with IDVT. No significant differences were found in positive rates of ferritin and β2-microglobulin between tumor and non-tumor groups, and no significant difference exists in serum levels of ferritin and β2-microglobulin between the two groups. Carbohydrate antigens, CA 15-3 in particular, may be useful for differential diagnosis and prediction of malignancies in patients with IDVT.

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“…On the other hand, knockdown of MUC16 causes cell cycle arrest (either in G2/M or G1 phase) and apoptosis [143,144]. …”

Section: Biological Role Of Muc16mentioning

confidence: 99%

MUC16 (CA125): tumor biomarker to cancer therapy, a work in progress

et al. 2014

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Over three decades have passed since the first report on the expression of CA125 by ovarian tumors. Since that time our understanding of ovarian cancer biology has changed significantly to the point that these tumors are now classified based on molecular phenotype and not purely on histological attributes. However, CA125 continues to be, with the recent exception of HE4, the only clinically reliable diagnostic marker for ovarian cancer. Many large-scale clinical trials have been conducted or are underway to determine potential use of serum CA125 levels as a screening modality or to distinguish between benign and malignant pelvic masses. CA125 is a peptide epitope of a 3–5 million Da mucin, MUC16. Here we provide an in-depth review of the literature to highlight the importance of CA125 as a prognostic and diagnostic marker for ovarian cancer. We focus on the increasing body of literature describing the biological role of MUC16 in the progression and metastasis of ovarian tumors. Finally, we consider previous and on-going efforts to develop therapeutic approaches to eradicate ovarian tumors by targeting MUC16. Even though CA125 is a crucial marker for ovarian cancer, the exact structural definition of this antigen continues to be elusive. The importance of MUC16/CA125 in the diagnosis, progression and therapy of ovarian cancer warrants the need for in-depth research on the biochemistry and biology of this mucin. A renewed focus on MUC16 is likely to culminate in novel and more efficient strategies for the detection and treatment of ovarian cancer.

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MUC1 and MUC4: Switching the Emphasis from Large to Small

Cited by 40 publications

References 45 publications

The genomic landscape of fibrolamellar hepatocellular carcinoma: whole genome sequencing of ten patients

The genomic landscape of fibrolamellar hepatocellular carcinoma: whole genome sequencing of ten patients

Carbohydrate antigens as potential biomarkers for the malignancy in patients with idiopathic deep venous thrombosis: A retrospective cohort study

MUC16 (CA125): tumor biomarker to cancer therapy, a work in progress

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