BRCA2 c.4854T>G ;(p.D1618E)

Variant ID: 13-32913346-T-G

NM_000059.3(BRCA2):c.4854T>G;(p.D1618E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 4854T>G; Asp1618Glu
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.

Scientific Reports
Lee, Seung Eun SE; Lee, Hye Seung HS; Kim, Kyoung-Yeon KY; Park, Jung-Hoon JH; Roh, Hanseong H; Park, Ha Young HY; Kim, Wan-Seop WS
Publication Date: 2019-07-29

Variant appearance in text: BRCA2: D1618E
PubMed Link: 31358837
Variant Present in the following documents:
  • 41598_2019_47439_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Cancer Research And Treatment
Park, Ji Soo JS; Nam, Eun Ji EJ; Park, Hyung Seok HS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Lee, Seung-Tae ST
Publication Date: 2017-10

Variant appearance in text: BRCA2: D1618E
PubMed Link: 28111427
Variant Present in the following documents:
  • Main text
  • crt-2016-433.pdf
View BVdb publication page



Comprehensive screening of target molecules by next-generation sequencing in patients with malignant solid tumors: guiding entry into phase I clinical trials.

Molecular Cancer
Tanabe, Yuko Y; Ichikawa, Hitoshi H; Kohno, Takashi T; Yoshida, Hiroshi H; Kubo, Takashi T; Kato, Mamoru M; Iwasa, Satoru S; Ochiai, Atsushi A; Yamamoto, Noboru N; Fujiwara, Yasuhiro Y; Tamura, Kenji K
Publication Date: 2016-11-16

Variant appearance in text: BRCA2: D1618E
PubMed Link: 27852271
Variant Present in the following documents:
  • 12943_2016_553_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page