Publications:

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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: BRCA1: 4987_5277del

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 2

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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Communications Biology

Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC

Publication Date: 2022-10-06

Variant appearance in text: BRCA1: His1732_Lys1759del

PubMed Link: 36203093

Variant Present in the following documents:

• 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14

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The Progress of the Specific and Rapid Genetic Detection Methods for Ovarian Cancer Diagnosis and Treatment.

Technology In Cancer Research & Treatment

Dong, Kejun K; Zhang, Wei W; Cheng, Shuangshuang S; Shu, Wan W; Zhao, Rong R; Wang, Hongbo H

Publication Date: 2022

Variant appearance in text: BRCA1: 4987_5277del

PubMed Link: 36062718

Variant Present in the following documents:

• Main text

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Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.

Bmc Cancer

Hoyer, Juliane J; Vasileiou, Georgia G; Uebe, Steffen S; Wunderle, Marius M; Kraus, Cornelia C; Fasching, Peter A PA; Thiel, Christian T CT; Hartmann, Arndt A; Beckmann, Matthias W MW; Lux, Michael P MP; Reis, André A

Publication Date: 2018-09-26

Variant appearance in text: BRCA1: 5194_5277del

PubMed Link: 30257646

Variant Present in the following documents:

• Main text
• 12885_2018_Article_4821.pdf

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Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

Plos One

Stavropoulou, Alexandra V AV; Fostira, Florentia F; Pertesi, Maroulio M; Tsitlaidou, Marianthi M; Voutsinas, Gerassimos E GE; Triantafyllidou, Olga O; Bamias, Aristotelis A; Dimopoulos, Meletios A MA; Timotheadou, Eleni E; Pectasides, Dimitrios D; Christodoulou, Christos C; Klouvas, George G; Papadimitriou, Christos C; Makatsoris, Thomas T; Pentheroudakis, George G; Aravantinos, Gerasimos G; Karydakis, Vassilis V; Yannoukakos, Drakoulis D; Fountzilas, George G; Konstantopoulou, Irene I

Publication Date: 2013

Variant appearance in text: BRCA1: His1732_Lys1759del

PubMed Link: 23536787

Variant Present in the following documents:

• Main text

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Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients.

Breast Cancer Research And Treatment

Kwong, Ava A; Ng, Enders K O EK; Law, Fian B F FB; Wong, H N HN; Wa, Anna A; Wong, Chris L P CL; Kurian, Allison W AW; West, Dee W DW; Ford, James M JM; Ma, Edmond S K ES

Publication Date: 2012-12

Variant appearance in text: BRCA1: 4987_5277del; M1663_K1759del

PubMed Link: 23099436

Variant Present in the following documents:

• Main text

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Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

Plos One

Kwong, Ava A; Ng, Enders Kai On EK; Wong, Chris Lei Po CL; Law, Fian Bic Fai FB; Au, Tommy T; Wong, Hong Nei HN; Kurian, Allison W AW; West, Dee W DW; Ford, James M JM; Ma, Edmond Siu Kwan ES

Publication Date: 2012

Variant appearance in text: BRCA1: 4987_5277del

PubMed Link: 22970155

Variant Present in the following documents:

• Main text
• pone.0043994.pdf

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High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic.

Bmc Medical Genetics

Vasickova, Petra P; Machackova, Eva E; Lukesova, Miroslava M; Damborsky, Jiri J; Horky, Ondrej O; Pavlu, Hana H; Kuklova, Jitka J; Kosinova, Veronika V; Navratilova, Marie M; Foretova, Lenka L

Publication Date: 2007-06-11

Variant appearance in text: BRCA1: His1732_Lys1759del

PubMed Link: 17561994

Variant Present in the following documents:

• Main text

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