BRCA2 c.1278_1279insT ;(p.D427*)

Variant ID: 13-32906893-A-AT

NM_000059.3(BRCA2):c.1278_1279insT;(p.D427*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy.

Jnci Cancer Spectrum
Akamatsu, Shusuke S; Terada, Naoki N; Takata, Ryo R; Kinoshita, Hidefumi H; Shimatani, Kimihiro K; Momozawa, Yukihide Y; Yamamoto, Michio M; Tada, Harue H; Kawamorita, Naoki N; Narita, Shintaro S; Kato, Takuma T; Nitta, Masahiro M; Kandori, Shuya S; Koike, Yusuke Y; Inazawa, Johji J; Kimura, Takahiro T; Kimura, Hiroko H; Kojima, Takahiro T; Terachi, Toshiro T; Sugimoto, Mikio M; Habuchi, Tomonori T; Arai, Yoichi Y; Yamamoto, Shingo S; Matsuda, Tadashi T; Obara, Wataru W; Kamoto, Toshiyuki T; Inoue, Takahiro T; Nakagawa, Hidewaki H; Ogawa, Osamu O
Publication Date: 2022-02

Variant appearance in text: BRCA2: Asp427fs
PubMed Link: 35118230
Variant Present in the following documents:
  • Main text
  • pkac001.pdf
View BVdb publication page



Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy.

Jnci Cancer Spectrum
Akamatsu, Shusuke S; Terada, Naoki N; Takata, Ryo R; Kinoshita, Hidefumi H; Shimatani, Kimihiro K; Momozawa, Yukihide Y; Yamamoto, Michio M; Tada, Harue H; Kawamorita, Naoki N; Narita, Shintaro S; Kato, Takuma T; Nitta, Masahiro M; Kandori, Shuya S; Koike, Yusuke Y; Inazawa, Johji J; Kimura, Takahiro T; Kimura, Hiroko H; Kojima, Takahiro T; Terachi, Toshiro T; Sugimoto, Mikio M; Habuchi, Tomonori T; Arai, Yoichi Y; Yamamoto, Shingo S; Matsuda, Tadashi T; Obara, Wataru W; Kamoto, Toshiyuki T; Inoue, Takahiro T; Nakagawa, Hidewaki H; Ogawa, Osamu O
Publication Date: 2022-02

Variant appearance in text: BRCA2: Asp427fs
PubMed Link: 35118230
Variant Present in the following documents:
  • Main text
  • pkac001.pdf
View BVdb publication page



Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care.

Cold Spring Harbor Molecular Case Studies
Walsh, Michael F MF; Kennedy, Jennifer J; Harlan, Megan M; Kentsis, Alex A; Shukla, Neerav N; Musinsky, Jacob J; Roberts, Stephen S; Kung, Andrew L AL; Robson, Mark M; Kushner, Brian H BH; Meyers, Paul P; Offit, Kenneth K
Publication Date: 2017-11

Variant appearance in text: BRCA2: D427fs
PubMed Link: 28655807
Variant Present in the following documents:
  • Main text
  • WalshMCS001925.pdf
View BVdb publication page