prikaz prve stranice dokumenta PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney
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Scientific paper - Original scientific paper
PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney
Human Pathology, 38 (2007), 9; 1425-1431. https://doi.org/10.1016/j.humpath.2007.03.021
Vranić, Semir; Bilalović, Nurija; Lee, Lisa M.J.; Krušlin, Božo; Lilleberg, Stan L.; Gatalica, Zoran

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Vranić, S., Bilalović, N., Lee, L. M., Krušlin, B., Lilleberg, S. L. & Gatalica, Z. (2007). PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney. Human Pathology, 38. (9), 1425-1431. doi: 10.1016/j.humpath.2007.03.021

Vranić, Semir, et al. "PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney." Human Pathology, vol. 38, no. 9, 2007, pp. 1425-1431. https://doi.org/10.1016/j.humpath.2007.03.021

Vranić, Semir, Nurija Bilalović, Lisa M.J. Lee, Božo Krušlin, Stan L. Lilleberg and Zoran Gatalica. "PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney." Human Pathology 38, no. 9 (2007): 1425-1431. https://doi.org/10.1016/j.humpath.2007.03.021

Vranić, S., et al. (2007) 'PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney', Human Pathology, 38(9), pp. 1425-1431. doi: 10.1016/j.humpath.2007.03.021

Vranić S, Bilalović N, Lee LM, Krušlin B, Lilleberg SL, Gatalica Z. PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney. Human Pathology [Internet]. 2007 September [cited 2024 December 27];38(9):1425-1431. doi: 10.1016/j.humpath.2007.03.021

S. Vranić, N. Bilalović, L. M. Lee, B. Krušlin, S. L. Lilleberg and Z. Gatalica, "PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney", Human Pathology, vol. 38, no. 9, pp. 1425-1431, September 2007. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:458280. [Accessed: 27 December 2024]

Metadata
Title (english)PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney
AuthorSemir Vranić
AuthorNurija Bilalović
AuthorLisa M.J. Lee
AuthorBožo Krušlin
AuthorStan L. Lilleberg
AuthorZoran Gatalica
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
associated with excellent prognosis. We describe a patient with renal metastasis of primary breast ACC 5 years after the mastectomy. A detailed molecular genetic analysis of the primary and metastatic tumors demonstrated somatic mutations in 2 well-known cancer genes associated with regulation of PI3K/AKT signaling pathway: (1) PIK3CA, which encodes the catalytic alpha subunit of the phosphoinositide-3-kinase, and (2) PTEN, which encodes phosphatase and tensin homolog. The mutation identified in PIK3CA (Ex1+169 A>C) predicts an amino acid change from isoleucine to methionine at codon 31 (I31M) and resides in the p85-binding domain of exon 1. The mutation identified in PTEN (IVS4-3 C>T) resides in intron 4 near the splice acceptor site of exon 5 and was associated with an aberrant PTEN transcript lacking exon 5, which is necessary for protein tyrosine phosphatase function and tumor suppressor properties of PTEN. Increased promoter methylation of PTEN was present in renal metastasis, coinciding with the decrease in the level of normal PTEN transcript. These coexistent mutations/epigenetic inactivations in PI3K/AKT pathway may be responsible for the unusually aggressive course of ACC.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionAccepted version
Journal titleHuman Pathology
Numberingvol. 38, no. 9, pp. 1425-1431
p-ISSN0046-8177
DOIhttps://doi.org/10.1016/j.humpath.2007.03.021
URN:NBNurn:nbn:hr:105:458280
Publication2007-09
Document URLhttp://doi.org/10.1016/j.humpath.2007.03.021
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 09:33:47