BRCA2 c.1813_1814insC ;(p.I605Tfs*11)

Variant ID: 13-32907428-A-AC

NM_000059.3(BRCA2):c.1813_1814insC;(p.I605Tfs*11)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: rs80359308
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS1.xlsx, sheet 1
  • LSA-2021-01319_TableS3.xlsx, sheet 2
  • LSA-2021-01319_TableS5.xlsx, sheet 1
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Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience.

Frontiers In Genetics
Van der Merwe, Nerina C NC; Combrink, Herkulaas MvE HM; Ntaita, Kholiwe S KS; Oosthuizen, Jaco J
Publication Date: 2022

Variant appearance in text: rs80359308
PubMed Link: 35464868
Variant Present in the following documents:
  • Main text
  • fgene-13-834265.pdf
View BVdb publication page



Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Bmc Cancer
Sun, Peng P; Li, Yue Y; Chao, Xue X; Li, Jibin J; Luo, Rongzhen R; Li, Mei M; He, Jiehua J
Publication Date: 2020-10-14

Variant appearance in text: N/A
PubMed Link: 33054725
Variant Present in the following documents:
View BVdb publication page



The genomic landscapes of individual melanocytes from human skin.

Nature
Tang, Jessica J; Fewings, Eleanor E; Chang, Darwin D; Zeng, Hanlin H; Liu, Shanshan S; Jorapur, Aparna A; Belote, Rachel L RL; McNeal, Andrew S AS; Tan, Tuyet M TM; Yeh, Iwei I; Arron, Sarah T ST; Judson-Torres, Robert L RL; Bastian, Boris C BC; Shain, A Hunter AH
Publication Date: 2020-10

Variant appearance in text: rs80359308
PubMed Link: 33029006
Variant Present in the following documents:
  • NIHMS1626314-supplement-1626314_SuppTable3.xlsx, sheet 2
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: rs80359308
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s005.xlsx, sheet 1
View BVdb publication page



Mutations of epigenetic regulatory genes are common in thymic carcinomas.

Scientific Reports
Wang, Yisong Y; Thomas, Anish A; Lau, Christopher C; Rajan, Arun A; Zhu, Yuelin Y; Killian, J Keith JK; Petrini, Iacopo I; Pham, Trung T; Morrow, Betsy B; Zhong, Xiaogang X; Meltzer, Paul S PS; Giaccone, Giuseppe G
Publication Date: 2014-12-08

Variant appearance in text: rs80359308
PubMed Link: 25482724
Variant Present in the following documents:
  • srep07336-s1.pdf
View BVdb publication page