PALB2 c.3035C>T ;(p.T1012I)

Variant ID: 16-23632761-G-A

NM_024675.3(PALB2):c.3035C>T;(p.T1012I)

This variant was identified in 8 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: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2.

Npj Breast Cancer
Wu, Shijie S; Qi, Lina L; Chen, Huihui H; Zhang, Kun K; He, Jiapan J; Guo, Xianan X; Shen, Lu L; Zhou, Yunxiang Y; Zhong, Xi X; Zheng, Shu S; Zhou, Jiaojiao J; Chen, Yiding Y
Publication Date: 2022-07-19

Variant appearance in text: PALB2: T1012I
PubMed Link: 35853885
Variant Present in the following documents:
  • Main text
  • 41523_2022_Article_454.pdf
View BVdb publication page



DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine
Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N
Publication Date: 2022-02-25

Variant appearance in text: PALB2: 3035C>T
PubMed Link: 35209950
Variant Present in the following documents:
  • 13073_2022_1027_MOESM22_ESM.xls, sheet 1
View BVdb publication page



Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.

Frontiers In Oncology
Shen, Lu L; Zhang, Shizhen S; Wang, Kaiyue K; Wang, Xiaochen X
Publication Date: 2021

Variant appearance in text: PALB2: 3035C>T
PubMed Link: 34926254
Variant Present in the following documents:
  • Main text
  • fonc-11-740227.pdf
View BVdb publication page



Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.

Frontiers In Oncology
Hu, Bin B; Ma, Xiumei X; Huang, Renhua R; Wu, Zheng Z; Lu, Jun J; Guo, Yuntao Y; Tang, Jianmin J; Ma, Chunhui C; Ma, Jun J; Zhang, Lei L; Bai, Yongrui Y
Publication Date: 2021

Variant appearance in text: rs761032954
PubMed Link: 34434896
Variant Present in the following documents:
  • DataSheet_5.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: PALB2: 3035C>T; T1012I; rs761032954
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.

Journal Of Medical Genetics
Ng, Pei Sze PS; Boonen, Rick Acm RA; Wijaya, Eldarina E; Chong, Chan Eng CE; Sharma, Milan M; Knaup, Sabine S; Mariapun, Shivaani S; Ho, Weang Kee WK; Lim, Joanna J; Yoon, Sook-Yee SY; Mohd Taib, Nur Aishah NA; See, Mee Hoong MH; Li, Jingmei J; Lim, Swee Ho SH; Tan, Ern Yu EY; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Veronique Kiat-Mien VK; van Dam, Rob Martinus RM; Rahmat, Kartini K; Yip, Cheng Har CH; Carvalho, Sara S; Luccarini, Craig C; Baynes, Caroline C; Dunning, Alison M AM; Antoniou, Antonis A; van Attikum, Haico H; Easton, Douglas F DF; Hartman, Mikael M; Teo, Soo Hwang SH
Publication Date: 2022-05

Variant appearance in text: PALB2: 3035C>T; T1012I
PubMed Link: 33811135
Variant Present in the following documents:
  • Main text
  • jmedgenet-2020-107471.pdf
View BVdb publication page



PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.

European Journal Of Medical Research
Li, Yong Tao YT; Jiang, Wei Hua WH; Wang, Xiao Wen XW; Zhang, Ming Shuai MS; Zhang, Cheng Guang CG; Yi, Li Na LN; WuwaliKhan, Fulati F; Ayoufu, Aisikaer A; Ou, Jiang Hua JH
Publication Date: 2015-10-21

Variant appearance in text: PALB2: 3035C>T; T1012I
PubMed Link: 26489409
Variant Present in the following documents:
  • Main text
  • 40001_2015_Article_182.pdf
View BVdb publication page