Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs206119

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs206119

PubMed Link: 35112701

Variant Present in the following documents:

• 1415-4757-GMB-45-1-e20210172-s4.pdf

View BVdb publication page

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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs206119

PubMed Link: 35112701

Variant Present in the following documents:

• 1415-4757-GMB-45-1-e20210172-s4.pdf

View BVdb publication page

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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: -40+164G>A; rs206119

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs206119

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

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Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.

Bmc Genomics

Elsharawy, Abdou A; Forster, Michael M; Schracke, Nadine N; Keller, Andreas A; Thomsen, Ingo I; Petersen, Britt-Sabina BS; Stade, Björn B; Stähler, Peer P; Schreiber, Stefan S; Rosenstiel, Philip P; Franke, Andre A

Publication Date: 2012-08-22

Variant appearance in text: rs206119

PubMed Link: 22913592

Variant Present in the following documents:

• Main text
• 1471-2164-13-417.pdf

View BVdb publication page

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Comprehensive pathway-based association study of DNA repair gene variants and the risk of nasopharyngeal carcinoma.

Cancer Research

Qin, Hai-De HD; Shugart, Yin Yao YY; Bei, Jin-Xin JX; Pan, Qing-Hua QH; Chen, Lina L; Feng, Qi-Sheng QS; Chen, Li-Zhen LZ; Huang, Wei W; Liu, Jian Jun JJ; Jorgensen, Timothy J TJ; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2011-04-15

Variant appearance in text: rs206119

PubMed Link: 21368091

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs206119

PubMed Link: 21161372

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs206119

PubMed Link: 17428325

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs206119

PubMed Link: 17367212

Variant Present in the following documents:

View BVdb publication page

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