BRCA1 c.4097-2A>C

Variant ID: 17-41243051-T-G

NM_007294.3(BRCA1):c.4097-2A>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: rs80358019
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.

Scientific Reports
Mantere, Tuomo T; Tervasmäki, Anna A; Nurmi, Anna A; Rapakko, Katrin K; Kauppila, Saila S; Tang, Jiangbo J; Schleutker, Johanna J; Kallioniemi, Anne A; Hartikainen, Jaana M JM; Mannermaa, Arto A; Nieminen, Pentti P; Hanhisalo, Riitta R; Lehto, Sini S; Suvanto, Maija M; Grip, Mervi M; Jukkola-Vuorinen, Arja A; Tengström, Maria M; Auvinen, Päivi P; Kvist, Anders A; Borg, Åke Å; Blomqvist, Carl C; Aittomäki, Kristiina K; Greenberg, Roger A RA; Winqvist, Robert R; Nevanlinna, Heli H; Pylkäs, Katri K
Publication Date: 2017-04-06

Variant appearance in text: rs80358019
PubMed Link: 28386063
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_766.pdf
  • 41598_2017_766_MOESM1_ESM.pdf
View BVdb publication page



Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.

Plos Genetics
Mantere, Tuomo T; Winqvist, Robert R; Kauppila, Saila S; Grip, Mervi M; Jukkola-Vuorinen, Arja A; Tervasmäki, Anna A; Rapakko, Katrin K; Pylkäs, Katri K
Publication Date: 2016-01

Variant appearance in text: rs80358019
PubMed Link: 26820313
Variant Present in the following documents:
  • pgen.1005816.s004.xlsx, sheet 1
View BVdb publication page