BRCA2 c.-52A>G

Variant ID: 13-32889792-A-G

NM_000059.4(BRCA2):c.-52A>G

This variant was identified in 15 publications

View GRCh38 version.




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: -52A>G; rs206118
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
View BVdb publication page



Genetic Variants in Double-Strand Break Repair Pathway Genes to Predict Platinum-Based Chemotherapy Prognosis in Patients With Lung Cancer.

Frontiers In Pharmacology
Liu, Jun-Yan JY; Zou, Ting T; Yin, Ji-Ye JY; Wang, Zhan Z; Liu, Chong C; Huang, Han-Xue HX; Ding, Fei-Xiang FX; Lei, Meng-Rong MR; Wang, Ying Y; Liu, Min M; Liu, Zhao-Qian ZQ; Tan, Li-Ming LM; Chen, Juan J
Publication Date: 2022

Variant appearance in text: rs206118
PubMed Link: 35899106
Variant Present in the following documents:
  • Main text
  • fphar-13-915822.pdf
View BVdb publication page



Genetic variants of SDCCAG8 and MAGI2 in mitosis-related pathway genes are independent predictors of cutaneous melanoma-specific survival.

Cancer Science
He, Yuanmin Y; Liu, Hongliang H; Luo, Sheng S; Amos, Christopher I CI; Lee, Jeffrey E JE; Li, Xin X; Nan, Hongmei H; Wei, Qingyi Q
Publication Date: 2021-10

Variant appearance in text: rs206118
PubMed Link: 34375487
Variant Present in the following documents:
  • Main text
  • CAS-112-4355.pdf
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Genetic variants of EML1 and HIST1H4E in myeloid cell-related pathway genes independently predict cutaneous melanoma-specific survival.

American Journal Of Cancer Research
He, Yuanmin Y; Liu, Hongliang H; Luo, Sheng S; Amos, Christopher I CI; Lee, Jeffrey E JE; Yang, Keming K; Qureshi, Abrar A AA; Han, Jiali J; Wei, Qingyi Q
Publication Date: 2021

Variant appearance in text: rs206118
PubMed Link: 34249459
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: BRCA2: -52A>G; rs206118
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: BRCA2: -52A>G; rs206118
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics
Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J
Publication Date: 2018-06-22

Variant appearance in text: BRCA2: -52A>G; rs206118
PubMed Link: 29929473
Variant Present in the following documents:
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports
Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I
Publication Date: 2018-05-16

Variant appearance in text: rs206118
PubMed Link: 29769598
Variant Present in the following documents:
  • 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

European Journal Of Human Genetics : Ejhg
Byers, Helen H; Wallis, Yvonne Y; van Veen, Elke M EM; Lalloo, Fiona F; Reay, Kim K; Smith, Philip P; Wallace, Andrew J AJ; Bowers, Naomi N; Newman, William G WG; Evans, D Gareth DG
Publication Date: 2016-11

Variant appearance in text: rs206118
PubMed Link: 27273131
Variant Present in the following documents:
  • Main text
View BVdb publication page



A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Bmc Medical Genomics
Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK
Publication Date: 2016-04-11

Variant appearance in text: BRCA2: -52A>G; rs206118
PubMed Link: 27067391
Variant Present in the following documents:
  • Main text
  • 12920_2016_Article_178.pdf
View BVdb publication page



BRCA1 alterations are associated with endometriosis, but BRCA2 alterations show no detectable endometriosis risk: a study in Indian population.

Journal Of Assisted Reproduction And Genetics
Govatati, Suresh S; Challa, Kiran K; Reddy, Sunita B SB; Pramod, Kayathi K; Deenadayal, Mamata M; Chakravarty, Baidyanath B; Shivaji, Sisinthy S; Bhanoori, Manjula M
Publication Date: 2015-02

Variant appearance in text: rs206118
PubMed Link: 25380576
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival.

The Journal Of Investigative Dermatology
Yin, Jieyun J; Liu, Hongliang H; Liu, Zhensheng Z; Wang, Li-E LE; Chen, Wei V WV; Zhu, Dakai D; Amos, Christopher I CI; Fang, Shenying S; Lee, Jeffrey E JE; Wei, Qingyi Q
Publication Date: 2015-02

Variant appearance in text: rs206118
PubMed Link: 25243787
Variant Present in the following documents:
  • nihms-629129.pdf
View BVdb publication page



Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.

Breast Cancer Research And Treatment
Figueiredo, Jane C JC; Brooks, Jennifer D JD; Conti, David V DV; Poynter, Jenny N JN; Teraoka, Sharon N SN; Malone, Kathleen E KE; Bernstein, Leslie L; Lee, Won D WD; Duggan, David J DJ; Siniard, Ashley A; Concannon, Patrick P; Capanu, Marinela M; Lynch, Charles F CF; Olsen, Jørgen H JH; Haile, Robert W RW; Bernstein, Jonine L JL
Publication Date: 2011-06

Variant appearance in text: rs206118
PubMed Link: 21161372
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.

Breast Cancer Research : Bcr
Baynes, Caroline C; Healey, Catherine S CS; Pooley, Karen A KA; Scollen, Serena S; Luben, Robert N RN; Thompson, Deborah J DJ; Pharoah, Paul D P PD; Easton, Douglas F DF; Ponder, Bruce A J BA; Dunning, Alison M AM; ,
Publication Date: 2007

Variant appearance in text: rs206118
PubMed Link: 17428325
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between common variation in 120 candidate genes and breast cancer risk.

Plos Genetics
Pharoah, Paul D P PD; Tyrer, Jonathan J; Dunning, Alison M AM; Easton, Douglas F DF; Ponder, Bruce A J BA; ,
Publication Date: 2007-03-16

Variant appearance in text: rs206118
PubMed Link: 17367212
Variant Present in the following documents:
View BVdb publication page