APC c.1775T>G ;(p.L592*)

Variant ID: 5-112170679-T-G

NM_000038.5(APC):c.1775T>G;(p.L592*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology
Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Publication Date: 2022

Variant appearance in text: APC: L592*
PubMed Link: 36578946
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
  • DataSheet_2.xlsx, sheet 2
View BVdb publication page



Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).

Journal Of Clinical Laboratory Analysis
Ghadamyari, Faranak F; Heidari, Mohammad Mehdi MM; Zeinali, Sirous S; Khatami, Mehri M; Merat, Shahin S; Bagherian, Hamideh H; Rejali, Leili L; Ghasemi, Farzaneh F
Publication Date: 2021-05

Variant appearance in text: APC: Leu592Term
PubMed Link: 33769591
Variant Present in the following documents:
  • Main text
  • JCLA-35-e23768.pdf
View BVdb publication page



A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.

Familial Cancer
Aydemirli, M D MD; van der Tuin, K K; Hes, F J FJ; van den Ouweland, A M W AMW; van Wezel, T T; Kapiteijn, E E; Morreau, H H
Publication Date: 2020-01

Variant appearance in text: APC: 1775T>G; Leu592*
PubMed Link: 31598872
Variant Present in the following documents:
  • Main text
  • 10689_2019_Article_146.pdf
View BVdb publication page



Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

Plos One
Han, Sae-Won SW; Kim, Hwang-Phill HP; Shin, Jong-Yeon JY; Jeong, Eun-Goo EG; Lee, Won-Chul WC; Lee, Kyung-Hun KH; Won, Jae-Kyung JK; Kim, Tae-Yong TY; Oh, Do-Youn DY; Im, Seock-Ah SA; Bang, Yung-Jue YJ; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Park, Jae-Gahb JG; Kang, Gyeong Hoon GH; Seo, Jeong-Sun JS; Kim, Jong-Il JI; Kim, Tae-You TY
Publication Date: 2013

Variant appearance in text: APC: L592*
PubMed Link: 23700467
Variant Present in the following documents:
  • pone.0064271.s004.xlsx, sheet 1
View BVdb publication page



Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice
Friedl, Waltraut W; Aretz, Stefan S
Publication Date: 2005-09-15

Variant appearance in text: APC: 1775T>G; Leu592X
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
View BVdb publication page