APC c.1240C>A ;(p.R414S)

Variant ID: 5-112154969-C-A

NM_000038.5(APC):c.1240C>A;(p.R414S)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: APC: R414S
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Frontiers In Oncology
Yang, Po-Sheng PS; Chao, Ying-Ting YT; Lung, Chun-Fan CF; Liu, Chien-Liang CL; Chang, Yuan-Ching YC; Li, Ker-Chau KC; Hsu, Yi-Chiung YC
Publication Date: 2022

Variant appearance in text: APC: R414S
PubMed Link: 35936696
Variant Present in the following documents:
  • Main text
  • fonc-12-819555.pdf
View BVdb publication page



TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: rs137854567
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 2
View BVdb publication page



Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.

Scientific Reports
Lorca, Víctor V; Rueda, Daniel D; Martín-Morales, Lorena L; Fernández-Aceñero, María Jesús MJ; Grolleman, Judith J; Poves, Carmen C; Llovet, Patricia P; Tapial, Sandra S; García-Barberán, Vanesa V; Sanz, Julián J; Pérez-Segura, Pedro P; de Voer, Richarda M RM; Díaz-Rubio, Eduardo E; de la Hoya, Miguel M; Caldés, Trinidad T; Garre, Pilar P
Publication Date: 2019-07-08

Variant appearance in text: rs137854567
PubMed Link: 31285513
Variant Present in the following documents:
  • 41598_2019_Article_46403.pdf
View BVdb publication page



A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr
Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L
Publication Date: 2017-05-31

Variant appearance in text: rs137854567
PubMed Link: 28569218
Variant Present in the following documents:
  • 13058_2017_854_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Brohl, Andrew S AS; Patidar, Rajesh R; Turner, Clesson E CE; Wen, Xinyu X; Song, Young K YK; Wei, Jun S JS; Calzone, Kathleen A KA; Khan, Javed J
Publication Date: 2017-08

Variant appearance in text: rs137854567
PubMed Link: 28125078
Variant Present in the following documents:
  • NIHMS837744-supplement-Supplementary__Figure_and_Tables.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs137854567
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: rs137854567
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



PATH-SCAN: a reporting tool for identifying clinically actionable variants.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Daneshjou, Roxana R; Zappala, Zachary Z; Kukurba, Kim K; Boyle, Sean M SM; Ormond, Kelly E KE; Klein, Teri E TE; Snyder, Michael M; Bustamante, Carlos D CD; Altman, Russ B RB; Montgomery, Stephen B SB
Publication Date: 2014

Variant appearance in text: rs137854567
PubMed Link: 24297550
Variant Present in the following documents:
  • Main text
View BVdb publication page