Genetic analysis of SMAD4 C-terminal domain in patients with microsatellite stable early- age onset colorectal cancer
Апстракт
SMAD4 protein loss is a relatively common feature of sporadic
colorectal cancers (CRC), and it was observed to be even more frequent in early-age onset CRC
patients and microsatellite stable (MSS) tumors. Pathogenic variants in the SMAD4 gene are
usually missense or nonsense mutations, and they are more frequent in the C-terminal domain. The
aim of this study was to perform genetic analysis of SMAD4 C-terminal domain of MSS early-age
onset CRC patients. This pilot study was conducted with a purpose of investigating if such genetic
screening strategy would be useful for diagnostic purposes in this specific subgroup of CRC
patients.
Кључне речи:
SMAD4 / pathogenic variant / genetic testing / early onset disease / colorectal cancerИзвор:
Fight Colorectal Cancer (Fight CRC), 2021Издавач:
- Fight Colorectal Cancer (Fight CRC)
Финансирање / пројекти:
- Министарство науке, технолошког развоја и иновација Републике Србије, институционално финансирање - 200042 (Универзитет у Београду, Институт за молекуларну генетику и генетичко инжењерство) (RS-MESTD-inst-2020-200042)
Напомена:
- On June 24 and 25, 2021, Fight Colorectal Cancer (Fight CRC) and Dr. José Perea from Fundación Jiménez Díaz University Hospital in Madrid, Spain, virtually co-hosted the third annual early-age onset colorectal cancer (EAO CRC) international symposium, Rally on Research: EAO CRC
URI
https://imagine.imgge.bg.ac.rs/handle/123456789/1801https://fightcolorectalcancer.org/blog/recap-rally-on-research-eao-crc/
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - CONF AU - Despotović, Jovana AU - Babić, Tamara AU - Krivokapić, Zoran AU - Nikolić, Aleksandra PY - 2021 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/1801 UR - https://fightcolorectalcancer.org/blog/recap-rally-on-research-eao-crc/ AB - SMAD4 protein loss is a relatively common feature of sporadic colorectal cancers (CRC), and it was observed to be even more frequent in early-age onset CRC patients and microsatellite stable (MSS) tumors. Pathogenic variants in the SMAD4 gene are usually missense or nonsense mutations, and they are more frequent in the C-terminal domain. The aim of this study was to perform genetic analysis of SMAD4 C-terminal domain of MSS early-age onset CRC patients. This pilot study was conducted with a purpose of investigating if such genetic screening strategy would be useful for diagnostic purposes in this specific subgroup of CRC patients. PB - Fight Colorectal Cancer (Fight CRC) C3 - Fight Colorectal Cancer (Fight CRC) T1 - Genetic analysis of SMAD4 C-terminal domain in patients with microsatellite stable early- age onset colorectal cancer UR - https://hdl.handle.net/21.15107/rcub_imagine_1801 ER -
@conference{ author = "Despotović, Jovana and Babić, Tamara and Krivokapić, Zoran and Nikolić, Aleksandra", year = "2021", abstract = "SMAD4 protein loss is a relatively common feature of sporadic colorectal cancers (CRC), and it was observed to be even more frequent in early-age onset CRC patients and microsatellite stable (MSS) tumors. Pathogenic variants in the SMAD4 gene are usually missense or nonsense mutations, and they are more frequent in the C-terminal domain. The aim of this study was to perform genetic analysis of SMAD4 C-terminal domain of MSS early-age onset CRC patients. This pilot study was conducted with a purpose of investigating if such genetic screening strategy would be useful for diagnostic purposes in this specific subgroup of CRC patients.", publisher = "Fight Colorectal Cancer (Fight CRC)", journal = "Fight Colorectal Cancer (Fight CRC)", title = "Genetic analysis of SMAD4 C-terminal domain in patients with microsatellite stable early- age onset colorectal cancer", url = "https://hdl.handle.net/21.15107/rcub_imagine_1801" }
Despotović, J., Babić, T., Krivokapić, Z.,& Nikolić, A.. (2021). Genetic analysis of SMAD4 C-terminal domain in patients with microsatellite stable early- age onset colorectal cancer. in Fight Colorectal Cancer (Fight CRC) Fight Colorectal Cancer (Fight CRC).. https://hdl.handle.net/21.15107/rcub_imagine_1801
Despotović J, Babić T, Krivokapić Z, Nikolić A. Genetic analysis of SMAD4 C-terminal domain in patients with microsatellite stable early- age onset colorectal cancer. in Fight Colorectal Cancer (Fight CRC). 2021;. https://hdl.handle.net/21.15107/rcub_imagine_1801 .
Despotović, Jovana, Babić, Tamara, Krivokapić, Zoran, Nikolić, Aleksandra, "Genetic analysis of SMAD4 C-terminal domain in patients with microsatellite stable early- age onset colorectal cancer" in Fight Colorectal Cancer (Fight CRC) (2021), https://hdl.handle.net/21.15107/rcub_imagine_1801 .