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Showing 25 to 36 of 44 entries
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Cytotoxic and targeted therapy for BRCA1/2-driven cancers.

Hereditary cancer in clinical practice

Imyanitov EN.
PMID: 34454564
Hered Cancer Clin Pract. 2021 Aug 28;19(1):36. doi: 10.1186/s13053-021-00193-y.

Tumors arising in BRCA1/2 germline mutation carriers usually demonstrate somatic loss of the remaining BRCA1/2 allele and increased sensitivity to platinum compounds, anthracyclines, mitomycin C and poly (ADP-ribose) polymerase inhibitors (PARPi). Exposure to conventional platinum-based therapy or PARPi results...

Platinum drugs and taxanes: can we overcome resistance?.

Cell death discovery

Sazonova EV, Kopeina GS, Imyanitov EN, Zhivotovsky B.
PMID: 34226520
Cell Death Discov. 2021 Jun 26;7(1):155. doi: 10.1038/s41420-021-00554-5.

Cancer therapy is aimed at the elimination of tumor cells and acts via the cessation of cell proliferation and induction of cell death. Many research publications discussing the mechanisms of anticancer drugs use the terms "cell death" and "apoptosis"...

Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine.

Hereditary cancer in clinical practice

Sokolova TN, Breder VV, Shumskaya IS, Suspitsin EN, Aleksakhina SN, Yanus GA, Tiurin VI, Ivantsov AO, Vona B, Raskin GA, Gamajunov SV, Imyanitov EN.
PMID: 33407806
Hered Cancer Clin Pract. 2021 Jan 06;19(1):2. doi: 10.1186/s13053-020-00157-8.

BACKGROUND: Many cancer patients undergo sophisticated laboratory testing, which requires proper interpretation and interaction between different specialists.CASE PRESENTATION: We describe a patient with an extensive family history of cancer, who was diagnosed with bilateral breast cancer and two lung...

Efficacy of lorlatinib in lung carcinomas carrying distinct ALK translocation variants: The results of a single-center study.

Translational oncology

Orlov SV, Iyevleva AG, Filippova EA, Lozhkina AM, Odintsova SV, Sokolova TN, Mitiushkina NV, Tiurin VI, Preobrazhenskaya EV, Romanko AA, Martianov AS, Ivantsov AO, Aleksakhina SN, Togo AV, Imyanitov EN.
PMID: 34030112
Transl Oncol. 2021 Aug;14(8):101121. doi: 10.1016/j.tranon.2021.101121. Epub 2021 May 21.

BACKGROUND: Lorlatinib is a novel potent ALK inhibitor, with only a few studies reporting the results of its clinical use.METHODS: This study describes the outcomes of lorlatinib treatment for 35 non-small cell lung cancer patients with ALK rearrangements, who...

BRCA1 4153delA founder mutation in Russian ovarian cancer patients.

Hereditary cancer in clinical practice

Krylova NY, Lobeiko OS, Sokolenko AP, Iyevleva AG, Rozanov ME, Mitiushkina NV, Gergova MM, Porhanova TV, Urmancheyeva AF, Maximov SY, Togo AV, Imyanitov EN.
PMID: 20223023
Hered Cancer Clin Pract. 2006 Sep 15;4(4):193-6. doi: 10.1186/1897-4287-4-4-193.

The BRCA1 4153delA allele is frequently referred to as the Russian founder mutation, as it was initially detected in several cancer families from Moscow. Our earlier studies have demonstrated 1% occurrence of BRCA1 4153delA heterozygosity in familial and/or early-onset...

Systemic treatment for hereditary cancers: a 2012 update.

Hereditary cancer in clinical practice

Imyanitov EN, Byrski T.
PMID: 23548133
Hered Cancer Clin Pract. 2013 Apr 01;11(1):2. doi: 10.1186/1897-4287-11-2.

The history of specific therapy for hereditary tumors dates back to mid 1980s and involves a number of reports demonstrating regression of familial colon polyps upon administration of sulindac. Virtually no clinical studies on other hereditary cancer types were...

Bardet-Biedl Syndrome.

Molecular syndromology

Suspitsin EN, Imyanitov EN.
PMID: 27385962
Mol Syndromol. 2016 May;7(2):62-71. doi: 10.1159/000445491. Epub 2016 Apr 15.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental...

Molecular Diagnostics in Clinical Oncology.

Frontiers in molecular biosciences

Sokolenko AP, Imyanitov EN.
PMID: 30211169
Front Mol Biosci. 2018 Aug 27;5:76. doi: 10.3389/fmolb.2018.00076. eCollection 2018.

There are multiple applications of molecular tests in clinical oncology. Mutation analysis is now routinely utilized for the diagnosis of hereditary cancer syndromes. Healthy carriers of cancer-predisposing mutations benefit from tight medical surveillance and various preventive interventions. Cancers caused...

First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a .

Molecular syndromology

Suspitsin EN, Sibgatullina FI, Lyazina LV, Imyanitov EN.
PMID: 28611551
Mol Syndromol. 2017 Mar;8(2):103-106. doi: 10.1159/000454820. Epub 2017 Jan 17.

Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent

Breast cancer therapy for BRCA1 carriers: moving towards platinum standard?.

Hereditary cancer in clinical practice

Imyanitov EN.
PMID: 19379506
Hered Cancer Clin Pract. 2009 Apr 20;7(1):8. doi: 10.1186/1897-4287-7-8.

Recently Byrski et al. reported the first-ever breast cancer (BC) study, which specifically selected BRCA1-carriers for the neoadjuvant treatment and used monotherapy by cisplatin instead of conventional schemes. Although the TNM staging of the recruited patients was apparently more...

Cancer Therapy Guided by Mutation Tests: Current Status and Perspectives.

International journal of molecular sciences

Aleksakhina SN, Imyanitov EN.
PMID: 34681592
Int J Mol Sci. 2021 Oct 10;22(20). doi: 10.3390/ijms222010931.

The administration of many cancer drugs is tailored to genetic tests. Some genomic events, e.g., alterations of EGFR or BRAF oncogenes, result in the conformational change of the corresponding proteins and call for the use of mutation-specific compounds. Other...

Lack of Response to Vemurafenib in Melanoma Carrying BRAF K601E Mutation.

Case reports in oncology

Moiseyenko FV, Egorenkov VV, Kramchaninov MM, Artemieva EV, Aleksakhina SN, Holmatov MM, Moiseyenko VM, Imyanitov EN.
PMID: 31182949
Case Rep Oncol. 2019 May 16;12(2):339-343. doi: 10.1159/000500481. eCollection 2019.

Vemurafenib has been developed to target common BRAF mutation V600E. It also exerts activity towards some but not all rare BRAF substitutions. Proper cataloguing of drug-sensitive and -insensitive rare mutations remains a challenge, due to low occurrence of these...

Showing 25 to 36 of 44 entries