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: BRCA2: 1016del

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s005.xlsx, sheet 2

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Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Bmc Cancer

ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y

Publication Date: 2022-02-25

Variant appearance in text: BRCA2: 1016delA

PubMed Link: 35216584

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9181.pdf

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BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.

Genes

Le, Trong-Nhan N TN; Tran, Van-Khanh VK; Nguyen, Thu-Thuy TT; Vo, Nam S NS; Hoang, Tham H TH; Vo, Hoang-Long HL; Nguyen, Thanh-Hai T TT; Nguyen, Phuoc-Dung PD; Nguyen, Viet-Tien VT; Ta, Thanh-Van TV; Tran, Huy-Thinh HT

Publication Date: 2022-01-29

Variant appearance in text: BRCA2: 1016delA

PubMed Link: 35205313

Variant Present in the following documents:

• Main text

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Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.

Bmc Cancer

Azribi, Fathi F; Abdou, Ehab E; Dawoud, Emad E; Ashour, Mohamed M; Kamal, Amgad A; Al Sayed, Mohamed M; Burney, Ikram I

Publication Date: 2021-12-20

Variant appearance in text: BRCA2: 1016delA

PubMed Link: 34930165

Variant Present in the following documents:

• Main text
• 12885_2021_Article_9094.pdf

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Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.

Bmc Cancer

Azribi, Fathi F; Abdou, Ehab E; Dawoud, Emad E; Ashour, Mohamed M; Kamal, Amgad A; Al Sayed, Mohamed M; Burney, Ikram I

Publication Date: 2021-12-20

Variant appearance in text: BRCA2: 1016delA

PubMed Link: 34930165

Variant Present in the following documents:

• Main text
• 12885_2021_Article_9094.pdf

View BVdb publication page

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Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers.

Cancers

Vocka, Michal M; Zimovjanova, Martina M; Bielcikova, Zuzana Z; Tesarova, Petra P; Petruzelka, Lubos L; Mateju, Martin M; Krizova, Ludmila L; Kotlas, Jaroslav J; Soukupova, Jana J; Janatova, Marketa M; Zemankova, Petra P; Kleiblova, Petra P; Novotny, Jan J; Konopasek, Bohuslav B; Chodacka, Martina M; Brychta, Milan M; Sochor, Marek M; Smejkalova-Musilova, Denisa D; Cmejlova, Vlastimila V; Kozevnikovova, Renata R; Miskarova, Lenka L; Argalacsova, Sona S; Stolarova, Lenka L; Lhotova, Klara K; Borecka, Marianna M; Kleibl, Zdenek Z

Publication Date: 2019-05-28

Variant appearance in text: BRCA2: 1016delA

PubMed Link: 31141992

Variant Present in the following documents:

• cancers-11-00738-s001.pdf

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Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer

Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM

Publication Date: 2019-08-15

Variant appearance in text: BRCA2: 1016delA

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s007.xlsx, sheet 4

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Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Breast Cancer Research : Bcr

Rebbeck, Timothy R TR; Friebel, Tara M TM; Mitra, Nandita N; Wan, Fei F; Chen, Stephanie S; Andrulis, Irene L IL; Apostolou, Paraskevi P; Arnold, Norbert N; Arun, Banu K BK; Barrowdale, Daniel D; Benitez, Javier J; Berger, Raanan R; Berthet, Pascaline P; Borg, Ake A; Buys, Saundra S SS; Caldes, Trinidad T; Carter, Jonathan J; Chiquette, Jocelyne J; Claes, Kathleen B M KB; Couch, Fergus J FJ; Cybulski, Cezary C; Daly, Mary B MB; de la Hoya, Miguel M; Diez, Orland O; Domchek, Susan M SM; Nathanson, Katherine L KL; Durda, Katarzyna K; Ellis, Steve S; , ; Evans, D Gareth DG; Foretova, Lenka L; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; Glendon, Gord G; Godwin, Andrew K AK; Greene, Mark H MH; Gronwald, Jacek J; Hahnen, Eric E; Hallberg, Emily E; Hamann, Ute U; Hansen, Thomas V O TV; , ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Jakubowska, Anna A; Janavicius, Ramunas R; Jaworska-Bieniek, Katarzyna K; John, Esther M EM; Karlan, Beth Y BY; Kaufman, Bella B; Investigators, KConFab K; Kwong, Ava A; Laitman, Yael Y; Lasset, Christine C; Lazaro, Conxi C; Lester, Jenny J; Loman, Niklas N; Lubinski, Jan J; Manoukian, Siranoush S; Mitchell, Gillian G; Montagna, Marco M; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nussbaum, Robert L RL; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Park, Sue Kyung SK; Piedmonte, Marion M; Radice, Paolo P; Rappaport-Fuerhauser, Christine C; Rookus, Matti A MA; Seynaeve, Caroline C; Simard, Jacques J; Singer, Christian F CF; Soucy, Penny P; Southey, Melissa M; Stoppa-Lyonnet, Dominique D; Sukiennicki, Grzegorz G; Szabo, Csilla I CI; Tancredi, Mariella M; Teixeira, Manuel R MR; Teo, Soo-Hwang SH; Terry, Mary Beth MB; Thomassen, Mads M; Tihomirova, Laima L; Tischkowitz, Marc M; Toland, Amanda Ewart AE; Toloczko-Grabarek, Aleksandra A; Tung, Nadine N; van Rensburg, Elizabeth J EJ; Villano, Danylo D; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Zidan, Jamal J; Zorn, Kristin K KK; McGuffog, Lesley L; Easton, Douglas D; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Ramus, Susan J SJ

Publication Date: 2016-11-11

Variant appearance in text: BRCA2: 1016delA

PubMed Link: 27836010

Variant Present in the following documents:

• Main text
• 13058_2016_Article_768.pdf

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Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

Journal Of Medical Genetics

Kwong, Ava A; Shin, Vivian Y VY; Ho, John C W JC; Kang, Eunyoung E; Nakamura, Seigo S; Teo, Soo-Hwang SH; Lee, Ann S G AS; Sng, Jen-Hwei JH; Ginsburg, Ophira M OM; Kurian, Allison W AW; Weitzel, Jeffrey N JN; Siu, Man-Ting MT; Law, Fian B F FB; Chan, Tsun-Leung TL; Narod, Steven A SA; Ford, James M JM; Ma, Edmond S K ES; Kim, Sung-Won SW

Publication Date: 2016-01

Variant appearance in text: BRCA2: 1016delA

PubMed Link: 26187060

Variant Present in the following documents:

• Main text

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Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

Biomed Research International

Ruiz, Anna A; Llort, Gemma G; Yagüe, Carmen C; Baena, Neus N; Viñas, Marina M; Torra, Montse M; Brunet, Anna A; Seguí, Miquel A MA; Saigí, Eugeni E; Guitart, Miriam M

Publication Date: 2014

Variant appearance in text: BRCA2: 1016delA

PubMed Link: 25136594

Variant Present in the following documents:

• 542541.f1.pdf

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