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: rs11571836

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs11571836

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2

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BRCA2 3'-UTR Polymorphism rs15869 Alters Susceptibility to Papillary Thyroid Carcinoma via Binding hsa-mir-1178-3p.

Pharmacogenomics And Personalized Medicine

Guo, Nan N; Qu, Peng P; Li, Hao H; Liu, Liuli L; Jin, Hao H; Liu, Renqi R; Zhang, Zhen Z; Zhang, Xuan X; Li, Yingchun Y; Lu, Xiaobo X; Zhao, Yuejiao Y

Publication Date: 2021

Variant appearance in text: rs11571836

PubMed Link: 33986610

Variant Present in the following documents:

• Main text

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Genetic Variants in the 3'UTR of BRCA1 and BRCA2 Genes and their Putative Effects on the microRNA Mechanism in Hereditary Breast and Ovarian Cancer.

Diagnostics (Basel, Switzerland)

Sánchez-Chaparro, María Marisela MM; Garza-Veloz, Idalia I; Zayas-Villanueva, Omar Alejandro OA; Martinez-Fierro, Margarita L ML; Delgado-Enciso, Iván I; Gomez-Govea, Mayra Alejandra MA; Martínez-de-Villarreal, Laura Elia LE; Reséndez-Pérez, Diana D; Rodríguez-Sánchez, Iram Pablo IP

Publication Date: 2020-05-13

Variant appearance in text: rs11571836

PubMed Link: 32414209

Variant Present in the following documents:

• Main text
• diagnostics-10-00298.pdf

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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: rs11571836

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.

Journal Of Breast Cancer

Sirisena, Nirmala Dushyanthi ND; Adeyemo, Adebowale A; Kuruppu, Anchala Ishani AI; Samaranayake, Nilakshi N; Dissanayake, Vajira Harshadeva Weerabaddana VHW

Publication Date: 2018-06

Variant appearance in text: rs11571836

PubMed Link: 29963112

Variant Present in the following documents:

• Main text
• jbc-21-165.pdf

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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: rs11571836

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

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs11571836

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

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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: rs11571836

PubMed Link: 27067391

Variant Present in the following documents:

• Main text
• 12920_2016_Article_178.pdf

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Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study.

European Journal Of Human Genetics : Ejhg

Garcia, Amandine I AI; Buisson, Monique M; Damiola, Francesca F; Tessereau, Chloé C; Barjhoux, Laure L; Verny-Pierre, Carole C; Sornin, Valérie V; Dondon, Marie-Gabrielle MG; Eon-Marchais, Séverine S; , ; Caron, Olivier O; Gautier-Villars, Marion M; Coupier, Isabelle I; Buecher, Bruno B; Vennin, Philippe P; Belotti, Muriel M; Lortholary, Alain A; Gesta, Paul P; Dugast, Catherine C; Noguès, Catherine C; Fricker, Jean-Pierre JP; Faivre, Laurence L; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Sinilnikova, Olga M OM; Mazoyer, Sylvie S

Publication Date: 2016-08

Variant appearance in text: rs11571836

PubMed Link: 26785832

Variant Present in the following documents:

• Main text

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A variant at a potentially functional microRNA-binding site in BRIP1 was associated with risk of squamous cell carcinoma of the head and neck.

Tumour Biology : The Journal Of The International Society For Oncodevelopmental Biology And Medicine

Liu, Hongliang H; Gao, Fengqin F; Dahlstrom, Kristina R KR; Li, Guojun G; Sturgis, Erich M EM; Zevallos, Jose P JP; Wei, Qingyi Q; Liu, Zhensheng Z

Publication Date: 2016-06

Variant appearance in text: rs11571836

PubMed Link: 26711789

Variant Present in the following documents:

• Main text

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BRCA2 variants and cardiovascular disease in a multi-ethnic study.

Bmc Medical Genetics

Zbuk, Kevin K; Xie, Changchun C; Young, Robin R; Heydarpour, Mahyar M; Pare, Guillaume G; Davis, A Darlene AD; Miller, Ruby R; Lanktree, Matthew B MB; Saleheen, Danish D; Danesh, John J; Yusuf, Salim S; Engert, James C JC; Hegele, Robert A RA; Anand, Sonia S SS

Publication Date: 2012-07-18

Variant appearance in text: rs11571836

PubMed Link: 22809218

Variant Present in the following documents:

• Main text
• 1471-2350-13-56.pdf

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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: rs11571836

PubMed Link: 21161372

Variant Present in the following documents:

• Main text

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