Publications:

---

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: BRCA1: 4358-1893A>C; rs8176199

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs8176199

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.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: rs8176199

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

---

Common variation in BRCA1 may have a role in progression to lethal prostate cancer after radiation treatment.

Prostate Cancer And Prostatic Diseases

Sanchez, A A; Schoenfeld, J D JD; Nguyen, P L PL; Fiorentino, M M; Chowdhury, D D; Stampfer, M J MJ; Sesso, H D HD; Giovannucci, E E; Mucci, L A LA; Shui, I M IM

Publication Date: 2016-06

Variant appearance in text: rs8176199

PubMed Link: 26926928

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.

Nucleic Acids Research

Tessereau, Chloé C; Lesecque, Yann Y; Monnet, Nastasia N; Buisson, Monique M; Barjhoux, Laure L; Léoné, Mélanie M; Feng, Bingjian B; Goldgar, David E DE; Sinilnikova, Olga M OM; Mousset, Sylvain S; Duret, Laurent L; Mazoyer, Sylvie S

Publication Date: 2014-08

Variant appearance in text: rs8176199

PubMed Link: 25034697

Variant Present in the following documents:

• supp_gku639_nar-00908-d-2014-File008.xlsx, sheet 1

View BVdb publication page

---

Associations of polymorphisms in DNA repair genes and MDR1 gene with chemotherapy response and survival of non-small cell lung cancer.

Plos One

Du, Yan Y; Su, Tong T; Zhao, Lijun L; Tan, Xiaojie X; Chang, Wenjun W; Zhang, Hongwei H; Cao, Guangwen G

Publication Date: 2014

Variant appearance in text: rs8176199

PubMed Link: 24933103

Variant Present in the following documents:

• Main text
• pone.0099843.pdf

View BVdb publication page

---

NFE2L2 pathway polymorphisms and lung function decline in chronic obstructive pulmonary disease.

Physiological Genomics

Sandford, Andrew J AJ; Malhotra, Deepti D; Boezen, H Marike HM; Siedlinski, Mateusz M; Postma, Dirkje S DS; Wong, Vivien V; Akhabir, Loubna L; He, Jian-Qing JQ; Connett, John E JE; Anthonisen, Nicholas R NR; Paré, Peter D PD; Biswal, Shyam S

Publication Date: 2012-08-01

Variant appearance in text: rs8176199

PubMed Link: 22693272

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

Human Molecular Genetics

Cox, David G DG; Simard, Jacques J; Sinnett, Daniel D; Hamdi, Yosr Y; Soucy, Penny P; Ouimet, Manon M; Barjhoux, Laure L; Verny-Pierre, Carole C; McGuffog, Lesley L; Healey, Sue S; Szabo, Csilla C; Greene, Mark H MH; Mai, Phuong L PL; Andrulis, Irene L IL; , ; Thomassen, Mads M; Gerdes, Anne-Marie AM; Caligo, Maria A MA; Friedman, Eitan E; Laitman, Yael Y; Kaufman, Bella B; Paluch, Shani S SS; Borg, Åke Å; Karlsson, Per P; Askmalm, Marie Stenmark MS; Bustinza, Gisela Barbany GB; , ; Nathanson, Katherine L KL; Domchek, Susan M SM; Rebbeck, Timothy R TR; Benítez, Javier J; Hamann, Ute U; Rookus, Matti A MA; van den Ouweland, Ans M W AM; Ausems, Margreet G E M MG; Aalfs, Cora M CM; van Asperen, Christi J CJ; Devilee, Peter P; Gille, Hans J J P HJ; , ; , ; Peock, Susan S; Frost, Debra D; Evans, D Gareth DG; Eeles, Ros R; Izatt, Louise L; Adlard, Julian J; Paterson, Joan J; Eason, Jacqueline J; Godwin, Andrew K AK; Remon, Marie-Alice MA; Moncoutier, Virginie V; Gauthier-Villars, Marion M; Lasset, Christine C; Giraud, Sophie S; Hardouin, Agnès A; Berthet, Pascaline P; Sobol, Hagay H; Eisinger, François F; Bressac de Paillerets, Brigitte B; Caron, Olivier O; Delnatte, Capucine C; , ; Goldgar, David D; Miron, Alex A; Ozcelik, Hilmi H; Buys, Saundra S; Southey, Melissa C MC; Terry, Mary Beth MB; , ; Singer, Christian F CF; Dressler, Anne-Catharina AC; Tea, Muy-Kheng MK; Hansen, Thomas V O TV; Johannsson, Oskar O; Piedmonte, Marion M; Rodriguez, Gustavo C GC; Basil, Jack B JB; Blank, Stephanie S; Toland, Amanda E AE; Montagna, Marco M; Isaacs, Claudine C; Blanco, Ignacio I; Gayther, Simon A SA; Moysich, Kirsten B KB; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Engel, Christoph C; Meindl, Alfons A; Ditsch, Nina N; Arnold, Norbert N; Niederacher, Dieter D; Sutter, Christian C; Gadzicki, Dorothea D; Fiebig, Britta B; Caldes, Trinidad T; Laframboise, Rachel R; Nevanlinna, Heli H; Chen, Xiaoqing X; Beesley, Jonathan J; Spurdle, Amanda B AB; Neuhausen, Susan L SL; Ding, Yuan C YC; Couch, Fergus J FJ; Wang, Xianshu X; Peterlongo, Paolo P; Manoukian, Siranoush S; Bernard, Loris L; Radice, Paolo P; Easton, Douglas F DF; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Stoppa-Lyonnet, Dominique D; Mazoyer, Sylvie S; Sinilnikova, Olga M OM; ,

Publication Date: 2011-12-01

Variant appearance in text: rs8176199

PubMed Link: 21890493

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: rs8176199

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: rs8176199

PubMed Link: 17367212

Variant Present in the following documents:

View BVdb publication page

---