APC c.295C>A ;(p.R99=)

Variant ID: 5-112102960-C-A

NM_000038.5(APC):c.295C>A;(p.R99=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.

Journal Of Genomics
Laraqui, Abdelilah A; Cavaillé, Mathias M; Uhrhammer, Nancy N; ElBiad, Oubaida O; Bidet, Yannick Y; El Rhaffouli, Hicham H; El Anaz, Hicham H; Rahali, Driss Moussaoui DM; Kouach, Jaouad J; Guelzim, Khaled K; Badaoui, Bouabid B; AlBouzidi, Abderrahman A; Oukabli, Mohammed M; Tanz, Rachid R; Sbitti, Yasser Y; Ichou, Mohammed M; Ennibi, Khaled K; Sekhsokh, Yassine Y; Bignon, Yves-Jean YJ
Publication Date: 2021

Variant appearance in text: rs139196838
PubMed Link: 34646395
Variant Present in the following documents:
  • jgenv09p0043.pdf
View BVdb publication page



Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms.

Cancers
Mosquera Orgueira, Adrián A; Cid López, Miguel M; Peleteiro Raíndo, Andrés A; Díaz Arias, José Ángel JÁ; Antelo Rodríguez, Beatriz B; Bao Pérez, Laura L; Alonso Vence, Natalia N; Bendaña López, Ángeles Á; Abuin Blanco, Aitor A; Melero Valentín, Paula P; Ferreiro Ferro, Roi R; Aliste Santos, Carlos C; Fraga Rodríguez, Máximo Francisco MF; González Pérez, Marta Sonia MS; Pérez Encinas, Manuel Mateo MM; Bello López, José Luis JL
Publication Date: 2021-03-16

Variant appearance in text: rs139196838
PubMed Link: 33809641
Variant Present in the following documents:
  • Main text
  • cancers-13-01340.pdf
View BVdb publication page



Characteristics of genomic alterations of lung adenocarcinoma in young never-smokers.

International Journal Of Cancer
Luo, Wenxin W; Tian, Panwen P; Wang, Yue Y; Xu, Heng H; Chen, Lu L; Tang, Chao C; Shu, Yang Y; Zhang, Shouyue S; Wang, Zhoufeng Z; Zhang, Jun J; Zhang, Li L; Jiang, Lili L; Liu, Lunxu L; Che, Guowei G; Guo, Chenglin C; Zhang, Hong H; Wang, Jiali J; Li, Weimin W
Publication Date: 2018-10-01

Variant appearance in text: rs139196838
PubMed Link: 29667179
Variant Present in the following documents:
  • IJC-143-1696-s009.pdf
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: rs139196838
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
View BVdb publication page



Evidence for L1-associated DNA rearrangements and negligible L1 retrotransposition in glioblastoma multiforme.

Mobile Dna
Carreira, Patricia E PE; Ewing, Adam D AD; Li, Guibo G; Schauer, Stephanie N SN; Upton, Kyle R KR; Fagg, Allister C AC; Morell, Santiago S; Kindlova, Michaela M; Gerdes, Patricia P; Richardson, Sandra R SR; Li, Bo B; Gerhardt, Daniel J DJ; Wang, Jun J; Brennan, Paul M PM; Faulkner, Geoffrey J GJ
Publication Date: 2016

Variant appearance in text: rs139196838
PubMed Link: 27843499
Variant Present in the following documents:
  • Main text
  • 13100_2016_76_MOESM1_ESM.xlsx, sheet 5
  • 13100_2016_Article_76.pdf
View BVdb publication page



Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr
Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA
Publication Date: 2013-12-10

Variant appearance in text: rs139196838
PubMed Link: 24326041
Variant Present in the following documents:
  • bcr3584-S1.pdf
View BVdb publication page