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: 5193+1354G>A; rs8176265

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.

Journal Of Cancer

Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Alghamdi, Mansour A MA; Khasawneh, Rame H RH

Publication Date: 2019

Variant appearance in text: rs8176265

PubMed Link: 31528229

Variant Present in the following documents:

• Main text
• jcav10p4647.pdf

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: rs8176265

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: rs8176265

PubMed Link: 29929473

Variant Present in the following documents:

• 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
• 12881_2018_605_MOESM2_ESM.xlsx, sheet 2

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: rs8176265

PubMed Link: 25034697

Variant Present in the following documents:

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

View BVdb publication page

---

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.

Human Genetics

Im, Kate M KM; Kirchhoff, Tomas T; Wang, Xianshu X; Green, Todd T; Chow, Clement Y CY; Vijai, Joseph J; Korn, Joshua J; Gaudet, Mia M MM; Fredericksen, Zachary Z; Shane Pankratz, V V; Guiducci, Candace C; Crenshaw, Andrew A; McGuffog, Lesley L; Kartsonaki, Christiana C; Morrison, Jonathan J; Healey, Sue S; Sinilnikova, Olga M OM; Mai, Phuong L PL; Greene, Mark H MH; Piedmonte, Marion M; Rubinstein, Wendy S WS; , ; Hogervorst, Frans B FB; Rookus, Matti A MA; Collée, J Margriet JM; Hoogerbrugge, Nicoline N; van Asperen, Christi J CJ; Meijers-Heijboer, Hanne E J HE; Van Roozendaal, Cees E CE; Caldes, Trinidad T; Perez-Segura, Pedro P; Jakubowska, Anna A; Lubinski, Jan J; Huzarski, Tomasz T; Blecharz, Paweł P; Nevanlinna, Heli H; Aittomäki, Kristiina K; Lazaro, Conxi C; Blanco, Ignacio I; Barkardottir, Rosa B RB; Montagna, Marco M; D'Andrea, Emma E; , ; Devilee, Peter P; Olopade, Olufunmilayo I OI; Neuhausen, Susan L SL; Peissel, Bernard B; Bonanni, Bernardo B; Peterlongo, Paolo P; Singer, Christian F CF; Rennert, Gad G; Lejbkowicz, Flavio F; Andrulis, Irene L IL; Glendon, Gord G; Ozcelik, Hilmi H; , ; Toland, Amanda Ewart AE; Caligo, Maria Adelaide MA; , ; Beattie, Mary S MS; Chan, Salina S; , ; Domchek, Susan M SM; Nathanson, Katherine L KL; Rebbeck, Timothy R TR; Phelan, Catherine C; Narod, Steven S; John, Esther M EM; Hopper, John L JL; Buys, Saundra S SS; Daly, Mary B MB; Southey, Melissa C MC; Terry, Mary-Beth MB; Tung, Nadine N; Hansen, Thomas V O TV; Osorio, Ana A; Benitez, Javier J; Durán, Mercedes M; Weitzel, Jeffrey N JN; Garber, Judy J; Hamann, Ute U; , ; Peock, Susan S; Cook, Margaret M; Oliver, Clare T CT; Frost, Debra D; Platte, Radka R; Evans, D Gareth DG; Eeles, Ros R; Izatt, Louise L; Paterson, Joan J; Brewer, Carole C; Hodgson, Shirley S; Morrison, Patrick J PJ; Porteous, Mary M; Walker, Lisa L; Rogers, Mark T MT; Side, Lucy E LE; Godwin, Andrew K AK; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Laitman, Yael Y; Meindl, Alfons A; Deissler, Helmut H; Varon-Mateeva, Raymonda R; Preisler-Adams, Sabine S; Kast, Karin K; Venat-Bouvet, Laurence L; Stoppa-Lyonnet, Dominique D; Chenevix-Trench, Georgia G; Easton, Douglas F DF; Klein, Robert J RJ; Daly, Mark J MJ; Friedman, Eitan E; Dean, Michael M; Clark, Andrew G AG; Altshuler, David M DM; Antoniou, Antonis C AC; Couch, Fergus J FJ; Offit, Kenneth K; Gold, Bert B

Publication Date: 2011-11

Variant appearance in text: rs8176265

PubMed Link: 21597964

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies.

Bmc Genetics

Pereira, Lutécia H Mateus LH; Pineda, Marbin A MA; Rowe, William H WH; Fonseca, Libia R LR; Greene, Mark H MH; Offit, Kenneth K; Ellis, Nathan A NA; Zhang, Jinghui J; Collins, Andrew A; Struewing, Jeffery P JP

Publication Date: 2007-10-04

Variant appearance in text: rs8176265

PubMed Link: 17916242

Variant Present in the following documents:

• Main text
• 1471-2156-8-68.pdf

View BVdb publication page

---