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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. i 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, br. 9, 2007, str. 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 i Zoran Gatalica. "PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney." Human Pathology 38, br. 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), str. 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]. 09.2007. [pristupljeno 02.05.2024.];38(9):1425-1431. doi: 10.1016/j.humpath.2007.03.021

S. Vranić, N. Bilalović, L. M. Lee, B. Krušlin, S. L. Lilleberg i Z. Gatalica, "PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney", Human Pathology, vol. 38, br. 9, str. 1425-1431, Rujan 2007. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:458280. [Citirano: 02.05.2024.]

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Naslov (engleski)PIK3CA and PTEN mutations in adenoid cystic carcinoma of the breast metastatic to kidney
AutorSemir Vranić
AutorNurija Bilalović
AutorLisa M.J. Lee
AutorBožo Krušlin
AutorStan L. Lilleberg
AutorZoran Gatalica
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeZavršna verzija rukopisa prihvaćena za objavljivanje (postprint)
Naslov časopisaHuman Pathology
Brojčani podacivol. 38, br. 9, str. 1425-1431
p-ISSN0046-8177
DOIhttps://doi.org/10.1016/j.humpath.2007.03.021
URN:NBNurn:nbn:hr:105:458280
Datum objave publikacije2007-09
URL dokumentahttp://doi.org/10.1016/j.humpath.2007.03.021
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2024-03-28 09:33:47