Search Results - "ALEKSAKHINA, Svetlana N"

Cancer Therapy Guided by Mutation Tests: Current Status and Perspectives by Aleksakhina, Svetlana N, Imyanitov, Evgeny N

“…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…”
Get full text

Agnostic Administration of Targeted Anticancer Drugs: Looking for a Balance between Hype and Caution by Aleksakhina, Svetlana N, Ivantsov, Alexander O, Imyanitov, Evgeny N

“…Many tumors have well-defined vulnerabilities, thus potentially allowing highly specific and effective treatment. There is a spectrum of actionable genetic…”
Get full text

High response rates to neoadjuvant platinum-based therapy in ovarian cancer patients carrying germ-line BRCA mutation by Gorodnova, Tatiana V, Sokolenko, Anna P, Ivantsov, Alexandr O, Iyevleva, Aglaya G, Suspitsin, Evgeny N, Aleksakhina, Svetlana N, Yanus, Grigory A, Togo, Alexandr V, Maximov, Sergey Ya, Imyanitov, Evgeny N

“…Highlights • Ovarian carcinomas arising in BRCA1/2 germ-line mutation carriers show high sensitivity to platinum-based neoadjuvant therapy. • Chemonaive…”
Get full text

KRAS, NRAS, BRAF, HER2 and MSI Status in a Large Consecutive Series of Colorectal Carcinomas by Martianov, Aleksandr S, Mitiushkina, Natalia V, Ershova, Anastasia N, Martynenko, Darya E, Bubnov, Mikhail G, Amankwah, Priscilla, Yanus, Grigory A, Aleksakhina, Svetlana N, Tiurin, Vladislav I, Venina, Aigul R, Anuskina, Aleksandra A, Gorgul, Yuliy A, Shestakova, Anna D, Maidin, Mikhail A, Belyaev, Alexey M, Baboshkina, Liliya S, Iyevleva, Aglaya G, Imyanitov, Evgeny N

“…This study aimed to analyze clinical and regional factors influencing the distribution of actionable genetic alterations in a large consecutive series of…”
Get full text

Rapid and Cost-Efficient Detection of RET Rearrangements in a Large Consecutive Series of Lung Carcinomas by Tiurin, Vladislav I, Preobrazhenskaya, Elena V, Mitiushkina, Natalia V, Romanko, Aleksandr A, Anuskina, Aleksandra A, Mulkidjan, Rimma S, Saitova, Evgeniya S, Krivosheyeva, Elena A, Kharitonova, Elena D, Shevyakov, Mikhail P, Tryakin, Ilya A, Aleksakhina, Svetlana N, Venina, Aigul R, Sokolova, Tatiana N, Martianov, Aleksandr S, Shestakova, Anna D, Ivantsov, Alexandr O, Iyevleva, Aglaya G, Imyanitov, Evgeny N

“…-kinase-activating gene rearrangements occur in approximately 1-2% of non-small-cell lung carcinomas (NSCLCs). Their reliable detection requires…”
Get full text

Preparation of Duplex Sequencing Libraries for Archival Paraffin-Embedded Tissue Samples Using Single-Strand-Specific Nuclease P1 by Mitiushkina, Natalia V, Yanus, Grigory A, Kuligina, Ekatherina Sh, Laidus, Tatiana A, Romanko, Alexandr A, Kholmatov, Maksim M, Ivantsov, Alexandr O, Aleksakhina, Svetlana N, Imyanitov, Evgeny N

“…DNA from formalin-fixed paraffin-embedded (FFPE) tissues, which are frequently utilized in cancer research, is significantly affected by chemical degradation…”
Get full text

Mechanisms of acquired tumor drug resistance by Aleksakhina, Svetlana N., Kashyap, Aniruddh, Imyanitov, Evgeny N.

“…Systemic therapy often results in the reduction of tumor size but rarely succeeds in eradicating all cancer cells. Drug efflux, persistence of cancer stem…”
Get full text

BRAF-mutated clear cell sarcoma is sensitive to vemurafenib treatment by Protsenko, Svetlana A., Semionova, Anna I., Komarov, Yuri I., Aleksakhina, Svetlana N., Ivantsov, Alexandr O., Iyevleva, Aglaya G., Imyanitov, Evgeny N.

“…Summary We report a patient with a metastatic relapse of clear cell sarcoma, whose tumor harbored BRAF V600E mutation. Standard chemotherapy with doxorubicin…”
Get full text

Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer by Sokolenko, Anna P., Sultanova, Luisa V., Stepanov, Ilya A., Romanko, Alexandr A., Venina, Aigul R., Sokolova, Tatiana N., Musayeva, Hedi S., Tovgereeva, Marina Ya, Magomedova, Mareta Kh, Akhmatkhanov, Khusein U., Vagapova, Elisa I., Suleymanov, Elkhan A., Vasilyeva, Elena V., Bakaeva, Elvina Kh, Bizin, Ilya V., Aleksakhina, Svetlana N., Imyanitov, Evgeny N.

“…Coding sequences of BRCA1, BRCA2, ATM, TP53, and PALB2 genes were analyzed in 68 consecutive Chechen patients with high‐grade serous ovarian cancer (HGSOC)…”
Get full text

Efficacy of lorlatinib in lung carcinomas carrying distinct ALK translocation variants: The results of a single-center study by Orlov, Sergey V., Iyevleva, Aglaya G., Filippova, Elena A., Lozhkina, Alexandra M., Odintsova, Svetlana V., Sokolova, Tatiana N., Mitiushkina, Natalia V., Tiurin, Vladislav I., Preobrazhenskaya, Elena V., Romanko, Alexandr A., Martianov, Alexandr S., Ivantsov, Alexandr O., Aleksakhina, Svetlana N., Togo, Alexandr V., Imyanitov, Evgeny N.

“…•In patients with ALK-rearranged NSCLC who received lorlatinib within the compassionate use program, the objective tumor response (OR) and disease control (DC)…”
Get full text

Lack of Response to Vemurafenib in Melanoma Carrying BRAF K601E Mutation by Moiseyenko, Fedor V., Egorenkov, Vitaliy V., Kramchaninov, Mikhail M., Artemieva, Elizaveta V., Aleksakhina, Svetlana N., Holmatov, Maxim M., Moiseyenko, Vladimir M., Imyanitov, Evgeny N.

“…Vemurafenib has been developed to target common BRAF mutation V600E. It also exerts activity towards some but not all rare BRAF substitutions. Proper…”
Get full text

Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine by Sokolova, Tatiana N, Breder, Valeriy V, Shumskaya, Irina S, Suspitsin, Evgeny N, Aleksakhina, Svetlana N, Yanus, Grigoriy A, Tiurin, Vladislav I, Ivantsov, Alexandr O, Vona, Barbara, Raskin, Grigoriy A, Gamajunov, Sergey V, Imyanitov, Evgeny N

“…Many cancer patients undergo sophisticated laboratory testing, which requires proper interpretation and interaction between different specialists. We describe…”
Get full text

Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation р.T632I by Orlova, Kristina V., Yanus, Grigory A., Aleksakhina, Svetlana N., Venina, Aigul R., Iyevleva, Aglaya G., Demidov, Lev V., Imyanitov, Evgeny N.

“…Approximately 15% of acral and mucous melanomas carry activating mutations in KIT oncogene. There is a diversity of spectrum of KIT mutations, with some of…”
Get full text

Novel ALK fusion partners in lung cancer by Iyevleva, Aglaya G, Raskin, Grigory A, Tiurin, Vladislav I, Sokolenko, Anna P, Mitiushkina, Natalia V, Aleksakhina, Svetlana N, Garifullina, Aigul R, Strelkova, Tatiana N, Merkulov, Valery O, Ivantsov, Alexandr O, Kuligina, Ekatherina Sh, Pozharisski, Kazimir M, Togo, Alexandr V, Imyanitov, Evgeny N

“…Highlights • Combination of two distinct PCR assays is a highly reliable approach for detection of both known and new ALK translocations. • Two novel ALK…”
Get full text

Somatic loss of the remaining allele occurs approximately in half of CHEK2-driven breast cancers and is accompanied by a border-line increase of chromosomal instability by Iyevleva, Aglaya G., Aleksakhina, Svetlana N., Sokolenko, Anna P., Baskina, Sofia V., Venina, Aigul R., Anisimova, Elena I., Bizin, Ilya V., Ivantsov, Alexandr O., Belysheva, Yana V., Chernyakova, Alexandra P., Togo, Alexandr V., Imyanitov, Evgeny N.

“…Purpose Germline mutations in CHEK2 gene represent the second most frequent cause of hereditary breast cancer (BC) after BRCA1/2 lesions. This study aimed to…”
Get full text

Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus by Sokolenko, Anna P., Bakaeva, Elvina Kh, Venina, Aigul R., Kuligina, Ekaterina Sh, Romanko, Alexandr A., Aleksakhina, Svetlana N., Belysheva, Yana V., Belogubova, Evgeniya V., Stepanov, Ilya A., Zaitseva, Olga A., Yatsuk, Olga S., Togo, Alexandr V., Khamgokov, Zaur M., Kadyrova, Azinat O., Pirmagomedov, Albert Sh, Bolieva, Marina B., Epkhiev, Alexandr A., Tsutsaev, Aslan K., Chakhieva, Madina D., Khabrieva, Khalimat M., Khabriev, Idris M., Murachuev, Mirza A., Buttaeva, Bella N., Baboshkina, Liliya S., Bayramkulova, Fatima I., Katchiev, Islam R., Alieva, Lina Kh, Raskin, Grigory A., Orlov, Sergey V., Khachmamuk, Zarema K., Levonyan, Karine R., Gichko, Dariya M., Kirtbaya, Dmitriy V., Degtyariov, Alexey M., Sultanova, Luisa V., Musayeva, Hedi S., Belyaev, Alexey M., Imyanitov, Evgeny N.

“…Background Mountain areas of the North Caucasus host several large ethnic communities that have preserved their national identity over the centuries. Methods…”
Get full text

Frequency and spectrum of founder and non-founder BRCA1 and BRCA2 mutations in a large series of Russian breast cancer and ovarian cancer patients by Sokolenko, Anna P., Sokolova, Tatiana N., Ni, Valeria I., Preobrazhenskaya, Elena V., Iyevleva, Aglaya G., Aleksakhina, Svetlana N., Romanko, Alexandr A., Bessonov, Alexandr A., Gorodnova, Tatiana V., Anisimova, Elena I., Savonevich, Elena L., Bizin, Ilya V., Stepanov, Ilya A., Krivorotko, Petr V., Berlev, Igor V., Belyaev, Alexey M., Togo, Alexandr V., Imyanitov, Evgeny N.

“…Background The spectrum of BRCA1 and BRCA2 mutations in Slavic countries is characterized by a high prevalence of founder alleles. Methods We analyzed a large…”
Get full text

Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39 by Kuligina, Ekaterina S., Sokolenko, Anna P., Bizin, Ilya V., Romanko, Alexandr A., Zagorodnev, Kirill A., Anisimova, Maria O., Krylova, Daria D., Anisimova, Elena I., Mantseva, Maria A., Varma, Ashok K., Hasan, Syed K., Ni, Valeria I., Koloskov, Andrey V., Suspitsin, Evgeny N., Venina, Aigul R., Aleksakhina, Svetlana N., Sokolova, Tatiana N., Milanović, Ana Marija, Schürmann, Peter, Prokofyeva, Darya S., Bermisheva, Marina A., Khusnutdinova, Elza K., Bogdanova, Natalia, Dörk, Thilo, Imyanitov, Evgeny N.

“…Purpose Germline variants in known breast cancer (BC) predisposing genes explain less than half of hereditary BC cases. This study aimed to identify missing…”
Get full text

Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients by Sokolenko, Anna P, Preobrazhenskaya, Elena V, Aleksakhina, Svetlana N, Iyevleva, Aglaya G, Mitiushkina, Natalia V, Zaitseva, Olga A, Yatsuk, Olga S, Tiurin, Vladislav I, Strelkova, Tatiana N, Togo, Alexandr V, Imyanitov, Evgeny N

“…Highlights • Russian hereditary breast cancer patients have been tested for germ-line defects in DNA repair genes. • Spectrum of mutations in CHEK2 and NBS1…”
Get full text

Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue by Ni, Valeriya I., Ivantsov, Alexandr O., Kotkova, Mariya A., Baskina, Sofia V., Ponomareva, Elena V., Orlova, Rashida V., Topuzov, Eldar E., Kryukov, Kirill K., Shelekhova, Kseniya V., Aleksakhina, Svetlana N., Sokolenko, Anna P., Imyanitov, Evgeny N.

“…A recent study suggested a role of CHEK2 loss-of-function germ-line pathogenic variants in the predisposition to testicular cancer (TC) (AlDubayan et al. JAMA…”
Get full text