Publications:

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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: BRIP1: -31+12G>A; rs4988340

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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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: BRIP1: -31+12G>A; rs4988340

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs4988340

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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A screening-testing approach for detecting gene-environment interactions using sequential penalized and unpenalized multiple logistic regression.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Frost, H Robert HR; Andrew, Angeline S AS; Karagas, Margaret R MR; Moore, Jason H JH

Publication Date: 2015

Variant appearance in text: rs4988340

PubMed Link: 25592580

Variant Present in the following documents:

• Main text

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Absence of truncating BRIP1 mutations in chromosome 17q-linked hereditary prostate cancer families.

British Journal Of Cancer

Ray, A M AM; Zuhlke, K A KA; Johnson, G R GR; Levin, A M AM; Douglas, J A JA; Lange, E M EM; Cooney, K A KA

Publication Date: 2009-12-15

Variant appearance in text: rs4988340

PubMed Link: 19935797

Variant Present in the following documents:

• Main text
• 6605433a.pdf

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Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.

Cancer Research

Rebbeck, Timothy R TR; Mitra, Nandita N; Domchek, Susan M SM; Wan, Fei F; Chuai, Shannon S; Friebel, Tara M TM; Panossian, Saarene S; Spurdle, Amanda A; Chenevix-Trench, Georgia G; , ; Singer, Christian F CF; Pfeiler, Georg G; Neuhausen, Susan L SL; Lynch, Henry T HT; Garber, Judy E JE; Weitzel, Jeffrey N JN; Isaacs, Claudine C; Couch, Fergus F; Narod, Steven A SA; Rubinstein, Wendy S WS; Tomlinson, Gail E GE; Ganz, Patricia A PA; Olopade, Olufunmilayo I OI; Tung, Nadine N; Blum, Joanne L JL; Greenberg, Roger R; Nathanson, Katherine L KL; Daly, Mary B MB

Publication Date: 2009-07-15

Variant appearance in text: rs4988340

PubMed Link: 19584272

Variant Present in the following documents:

• Main text

View BVdb publication page

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