BRCA2 c.1100del ;(p.D367Vfs*4)

Variant ID: 13-32906715-GA-G

NM_000059.3(BRCA2):c.1100del;(p.D367Vfs*4)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comparison of Homologous Recombination Repair Gene Next-Generation Sequencing Analysis in Patients With Metastatic Castration-Resistant Prostate Cancer Between Local and Central Laboratories in Korea.

Annals Of Laboratory Medicine
Kim, Yoonjung Y; Park, Inho I; Kim, Boyeon B; Choi, Yu Jeong YJ; Oh, Seoung Chul SC; Lee, Kyung-A KA
Publication Date: 2023-01-01

Variant appearance in text: BRCA2: 1100del
PubMed Link: 36045058
Variant Present in the following documents:
  • alm-43-1-64-supple.pdf
  • alm-43-1-64.pdf
View BVdb publication page



Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.

Blood Advances
Elbracht, Miriam M; Meyer, Robert R; Kricheldorf, Kim K; Gezer, Deniz D; Thomas, Eggermann E; Betz, Beate B; Kurth, Ingo I; Teichmann, Lino L LL; Brümmendorf, Tim H TH; Germing, Ulrich U; Isfort, Susanne S; Koschmieder, Steffen S
Publication Date: 2021-09-14

Variant appearance in text: BRCA2: 1100del
PubMed Link: 34477817
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lost in translation: returning germline genetic results in genome-scale cancer research.

Genome Medicine
Johns, Amber L AL; McKay, Skye H SH; Humphris, Jeremy L JL; Pinese, Mark M; Chantrill, Lorraine A LA; Mead, R Scott RS; Tucker, Katherine K; Andrews, Lesley L; Goodwin, Annabel A; Leonard, Conrad C; High, Hilda A HA; Nones, Katia K; Patch, Ann-Marie AM; Merrett, Neil D ND; Pavlakis, Nick N; Kassahn, Karin S KS; Samra, Jaswinder S JS; Miller, David K DK; Chang, David K DK; Pajic, Marina M; , ; Pearson, John V JV; Grimmond, Sean M SM; Waddell, Nicola N; Zeps, Nikolajs N; Gill, Anthony J AJ; Biankin, Andrew V AV
Publication Date: 2017-04-28

Variant appearance in text: BRCA2: 1100del
PubMed Link: 28454591
Variant Present in the following documents:
  • 13073_2017_Article_430.pdf
View BVdb publication page