Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Aniruddh, Kashyap"'
Publikováno v:
SoftwareX, Vol 24, Iss , Pp 101530- (2023)
We developed an efficient approach to diagnostic copy number analysis of targeted gene panel or whole exome sequence (WES) data. Here we present CNV-Z as a new tool for detection of copy number variants (CNVs). Deletions and duplications of chromosom
Externí odkaz:
https://doaj.org/article/116fbb08b8a244328253bd6c85387a23
Autor:
Tadeusz Dębniak, Rodney J Scott, Bohdan Górski, Bartłomiej Masojć, Andrzej Kram, Romuald Maleszka, Cezary Cybulski, Katarzyna Paszkowska-Szczur, Aniruddh Kashyap, Dawid Murawa, Karolina Malińska, Magdalena Kiedrowicz, Emilia Rogoża-Janiszewska, Helena Rudnicka, Jakub Deptuła, Paweł Domagała, Wojciech Kluźniak, Marcin R Lener, Jan Lubiński
Publikováno v:
PLoS ONE, Vol 13, Iss 10, p e0204768 (2018)
The association of BRCA1/2 mutations with melanoma is not completely determined; the interpretation of variants of unknown significance is also problematic. To evaluate these issues we explored the molecular basis of melanoma risk by performing whole
Externí odkaz:
https://doaj.org/article/4e2f8eeb5828426ebe60e920893c343b
Autor:
Sylwia Morawska, Pawel Domagala, Marek Szwiec, Steven A. Narod, Tomasz Huzarski, Aniruddh Kashyap, Jacek Gronwald, Jan Lubinski, Cezary Cybulski, Dominika Wokołorczyk, Katarzyna Gliniewicz, Anna Jakubowska, Wojciech Kluźniak, Mohammad R. Akbari, Agata Szymiczek, Klaudia Stempa, Tadeusz Dębniak, Bogna Rusak
Publikováno v:
International Journal of Cancer. 147:2793-2800
In designing national strategies for genetic testing, it is important to define the full spectrum of pathogenic mutations in prostate cancer (PCa) susceptibility genes. To investigate the frequency of mutations in PCa susceptibility genes in Polish f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e48dd0a8589572b876a560e8eb35c98
https://doi.org/10.1002/ijc.33272
https://doi.org/10.1002/ijc.33272
Autor:
Aniruddh Kashyap, M. Sąsiadek, K. Bernatowicz, Janusz Zimowski, Jacek Gronwald, I. Łaczmańska, Krzysztof Piotrowski, Małgorzata Bednarska-Makaruk
Publikováno v:
Russian Journal of Genetics. 55:1259-1265
Most common reasons for pregnancy loss are chromosomal anomalies of the fetus. They are found in as much as half of the miscarriages. The standard technique for assessment of chromosomal abnormalities in spontaneously aborted fetuses has been karyoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c639059e701d54f78412cce72e7fa93b
https://doi.org/10.1134/s102279541910003x
https://doi.org/10.1134/s102279541910003x
Autor:
Aniruddh Kashyap, Rodney J. Scott, Emilia Rogoża, Tomasz Gromowski, Karolina Malińska, Bohdan Górski, Rodney A Lea, Andrzej Kram, Jakub Deptuła, Helena Rudnicka, Katarzyna Paszkowska-Szczur, Romuald Maleszka, Jan Lubinski, Cezary Cybulski, Bartłomiej Masojć, Dawid Murawa, Marcin Lener, Tadeusz Dębniak
Publikováno v:
Cancer Research and Treatment : Official Journal of Korean Cancer Association
Purpose Germline mutations within melanoma susceptibility genes are present only in minority of melanoma patients and it is expected that additional genes will be discovered with next generation sequence technology and whole-exome sequencing (WES). M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c9b8748e79e7ec3c190a56d37d8e25
https://doi.org/10.4143/crt.2018.157
https://doi.org/10.4143/crt.2018.157
Autor:
Cezary Cybulski, Magdalena Cechowska, Mohammad R. Akbari, Jacek Gronwald, Aniruddh Kashyap, Marek Szwiec, Joanna Tomiczek-Szwiec, Helena Rudnicka, Wojciech Kluźniak, Steven A. Narod, Maryam Bagherzadeh, Tomasz Huzarski, Anna Jakubowska, Bogna Rusak, Pawel Domagala, Jan Lubinski, Dominika Wokołorczyk, Marcin Lener, Tadeusz Dębniak, Joanna Jarkiewicz-Tretyn, Agata Szymiczek, Klaudia Stempa
Publikováno v:
Breast Cancer Research and Treatment
Background XRCC2 participates in homologous recombination and in DNA repair. XRCC2 has been reported to be a breast cancer susceptibility gene and is now included in several breast cancer susceptibility gene panels. Methods We sequenced XRCC2 in 617
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23551fc344cdd150b4102cf9e5768ea4
https://link.springer.com/article/10.1007/s10549-019-05415-5
https://link.springer.com/article/10.1007/s10549-019-05415-5
Autor:
Wojciech Kluźniak, Jacek Gronwald, Aniruddh Kashyap, Anna Jakubowska, Steven A. Narod, Katarzyna Gliniewicz, Dominika Wokołorczyk, Klaudia Stempa, Bogna Rusak, Mohammad R. Akbari, Sylwia Morawska, Pawel Domagala, Marek Szwiec, Tadeusz Dębniak, Jan Lubinski, Tomasz Huzarski, Cezary Cybulski
Publikováno v:
Br J Cancer
BACKGROUND: The objective of this study was to establish the contribution of PALB2 mutations to prostate cancer risk and to estimate survival among PALB2 carriers. METHODS: We genotyped 5472 unselected men with prostate cancer and 8016 controls for t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f73ff1bc09171971f29e00c7a0e157d
https://pubmed.ncbi.nlm.nih.gov/34006922
https://pubmed.ncbi.nlm.nih.gov/34006922
Autor:
Emilia Rogoża-Janiszewska, Jakub Deptuła, Magdalena Kiedrowicz, Rodney J. Scott, Tadeusz Dębniak, Andrzej Kram, Pawel Domagala, Jolanta Hybiak, Magdalena Boer, Helena Rudnicka, Aniruddh Kashyap, Bartłomiej Masojć, Bohdan Górski, Cezary Cybulski, Karolina Malińska, Jan Lubinski
Publikováno v:
European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP). 29(6)
Evaluation of the prevalence of POT1, ACD, and TERF2IP mutations among Polish melanoma patients. A cohort of 60 patients from melanoma-prone families, 1500 unselected cases and 1500 controls were genotyped. Methodology included Sanger sequencing, in-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eccde36e185272a4d2537628f6e0ea9
https://pubmed.ncbi.nlm.nih.gov/32976206
https://pubmed.ncbi.nlm.nih.gov/32976206
Autor:
Dominika, Wokołorczyk, Wojciech, Kluźniak, Tomasz, Huzarski, Jacek, Gronwald, Agata, Szymiczek, Bogna, Rusak, Klaudia, Stempa, Katarzyna, Gliniewicz, Aniruddh, Kashyap, Sylwia, Morawska, Tadeusz, Dębniak, Anna, Jakubowska, Marek, Szwiec, Paweł, Domagała, Jan, Lubiński, Steven A, Narod, Mohammad R, Akbari, Cezary, Cybulski
Publikováno v:
International journal of cancerREFERENCES. 147(10)
In designing national strategies for genetic testing, it is important to define the full spectrum of pathogenic mutations in prostate cancer (PCa) susceptibility genes. To investigate the frequency of mutations in PCa susceptibility genes in Polish f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4fcad72e129bcb2399e8a203d36b71b6
https://pubmed.ncbi.nlm.nih.gov/32875559
https://pubmed.ncbi.nlm.nih.gov/32875559
Autor:
J. Gorgul, E. Imyanitov, A. Martianov, Ilya V. Bizin, Cezary Cybulski, Aniruddh Kashyap, Jakub Lubiński, Grigoriy A. Yanus, A Jakubowska, E.S. Kuligina, Evgeny N. Suspitsin, A.V. Tumakova, A. Romanko
Publikováno v:
Annals of Oncology. 32:S367
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9cfc3964d8ac7b1bbc325eaf3a868d31
https://doi.org/10.1016/j.annonc.2021.08.299
https://doi.org/10.1016/j.annonc.2021.08.299