Publications:

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology

Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X

Publication Date: 2021-03-10

Variant appearance in text: BRCA2: T1231T

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

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Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.

Bmc Cancer

Zayas-Villanueva, Omar Alejandro OA; Campos-Acevedo, Luis Daniel LD; Lugo-Trampe, José de Jesús JJ; Hernández-Barajas, David D; González-Guerrero, Juan Francisco JF; Noriega-Iriondo, María Fernanda MF; Ramírez-Sánchez, Ilse Alejandra IA; Martínez-de-Villarreal, Laura Elia LE

Publication Date: 2019-07-22

Variant appearance in text: rs751232859

PubMed Link: 31331294

Variant Present in the following documents:

• 12885_2019_5950_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?

Frontiers In Genetics

Zuntini, Roberta R; Ferrari, Simona S; Bonora, Elena E; Buscherini, Francesco F; Bertonazzi, Benedetta B; Grippa, Mina M; Godino, Lea L; Miccoli, Sara S; Turchetti, Daniela D

Publication Date: 2018

Variant appearance in text: BRCA2: 3693T>C

PubMed Link: 30254663

Variant Present in the following documents:

• Main text
• fgene-09-00378.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA2: 3693T>C; Thr1231=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page