BRCA2 c.753_754insT ;(p.D252*)

Variant ID: 13-32905127-A-AT

NM_000059.3(BRCA2):c.753_754insT;(p.D252*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Impact of DNA damage repair defects and aggressive variant features on response to carboplatin-based chemotherapy in metastatic castration-resistant prostate cancer.

International Journal Of Cancer
Slootbeek, Peter H J PHJ; Duizer, Marleen L ML; van der Doelen, Maarten J MJ; Kloots, Iris S H ISH; Kuppen, Malou C P MCP; Westgeest, Hans M HM; Uyl-de Groot, Carin A CA; Pamidimarri Naga, Samhita S; Ligtenberg, Marjolijn J L MJL; van Oort, Inge M IM; Gerritsen, Winald R WR; Schalken, Jack A JA; Kroeze, Leonie I LI; Bloemendal, Haiko J HJ; Mehra, Niven N
Publication Date: 2021-01-15

Variant appearance in text: N/A
PubMed Link: 32965028
Variant Present in the following documents:
View BVdb publication page



Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.

Cancers
Incorvaia, Lorena L; Fanale, Daniele D; Badalamenti, Giuseppe G; Bono, Marco M; Calò, Valentina V; Cancelliere, Daniela D; Castiglia, Marta M; Fiorino, Alessia A; Pivetti, Alessia A; Barraco, Nadia N; Cutaia, Sofia S; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2020-05-05

Variant appearance in text: N/A
PubMed Link: 32380732
Variant Present in the following documents:
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: N/A
PubMed Link: 31645765
Variant Present in the following documents:
View BVdb publication page



Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Ebiomedicine
Foley, Samantha B SB; Rios, Jonathan J JJ; Mgbemena, Victoria E VE; Robinson, Linda S LS; Hampel, Heather L HL; Toland, Amanda E AE; Durham, Leslie L; Ross, Theodora S TS
Publication Date: 2015-01

Variant appearance in text: N/A
PubMed Link: 26023681
Variant Present in the following documents:
View BVdb publication page