Bibliome.ai browser hg19
Search
About
Stats
FAQ
BRCA2 c.6922A>T ;(p.K2308*)
Variant ID: 13-32918775-A-T
NM_000059.3(
BRCA2
):c.6922A>T;(p.K2308*)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17
Variant appearance in text: BRCA2: 6922A>T; Lys2308*
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s002.xlsx, sheet 2
IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page
Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
Cancer Science
Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y
Publication Date: 2022-11
Variant appearance in text: BRCA2: 6922A>T; Lys2308*
PubMed Link:
36065483
Variant Present in the following documents:
CAS-113-3972-s005.pdf
CAS-113-3972-s007.pdf
View BVdb publication page
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Jama Oncology
Momozawa, Yukihide Y; Sasai, Rumi R; Usui, Yoshiaki Y; Shiraishi, Kouya K; Iwasaki, Yusuke Y; Taniyama, Yukari Y; Parsons, Michael T MT; Mizukami, Keijiro K; Sekine, Yuya Y; Hirata, Makoto M; Kamatani, Yoichiro Y; Endo, Mikiko M; Inai, Chihiro C; Takata, Sadaaki S; Ito, Hidemi H; Kohno, Takashi T; Matsuda, Koichi K; Nakamura, Seigo S; Sugano, Kokichi K; Yoshida, Teruhiko T; Nakagawa, Hidewaki H; Matsuo, Keitaro K; Murakami, Yoshinori Y; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2022-06-01
Variant appearance in text: BRCA2: 6922A>T; Lys2308*
PubMed Link:
35420638
Variant Present in the following documents:
jamaoncol-e220476-s001.pdf
View BVdb publication page
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: 6922A>T; Lys2308X
PubMed Link:
32377563
Variant Present in the following documents:
41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Pathogenic germline BRCA1/2 mutations and familial predisposition to gastric cancer.
Jco Precision Oncology
Ichikawa, Hiroshi H; Wakai, Toshifumi T; Nagahashi, Masayuki M; Shimada, Yoshifumi Y; Hanyu, Takaaki T; Kano, Yosuke Y; Muneoka, Yusuke Y; Ishikawa, Takashi T; Takizawa, Kazuyasu K; Tajima, Yosuke Y; Sakata, Jun J; Kobayashi, Takashi T; Kemeyama, Hitoshi H; Yabusaki, Hiroshi H; Nakagawa, Satoru S; Sato, Nobuaki N; Kawasaki, Takashi T; Homma, Keiichi K; Okuda, Shujiro S; Lyle, Stephen S; Takabe, Kazuaki K
Publication Date: 2018
Variant appearance in text: BRCA2: 6922A>T; K2308X
PubMed Link:
31608315
Variant Present in the following documents:
Main text
PO.18.00097.pdf
View BVdb publication page
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04
Variant appearance in text: BRCA2: 6922A>T; Lys2308*
PubMed Link:
30287823
Variant Present in the following documents:
41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page