Publications:

---

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: 68-7T>A; rs81002830

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2

View BVdb publication page

---

Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.

Scientific Reports

Chirita-Emandi, Adela A; Andreescu, Nicoleta N; Zimbru, Cristian G CG; Tutac, Paul P; Arghirescu, Smaranda S; Serban, Margit M; Puiu, Maria M

Publication Date: 2020-01-14

Variant appearance in text: BRCA2: 68-7T>A; rs81002830

PubMed Link: 31937788

Variant Present in the following documents:

• 41598_2019_57080_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: rs81002830

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

---

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs81002830

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

---

Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Human Genomics

Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A

Publication Date: 2019-01-10

Variant appearance in text: BRCA2: 68-7T>A; rs81002830

PubMed Link: 30630528

Variant Present in the following documents:

• 40246_2018_188_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.

Prostate Cancer And Prostatic Diseases

Petrovics, Gyorgy G; Price, Douglas K DK; Lou, Hong H; Chen, Yongmei Y; Garland, Lisa L; Bass, Sara S; Jones, Kristine K; Kohaar, Indu I; Ali, Amina A; Ravindranath, Lakshmi L; Young, Denise D; Cullen, Jennifer J; Dorsey, Tiffany H TH; Sesterhenn, Isabell A IA; Brassell, Stephen A SA; Rosner, Inger L IL; Ross, Doug D; Dahut, William W; Ambs, Stefan S; Figg, William Douglas WD; Srivastava, Shiv S; Dean, Michael M

Publication Date: 2019-09

Variant appearance in text: BRCA2: 68-7T>A; rs81002830

PubMed Link: 30542053

Variant Present in the following documents:

• 41391_2018_114_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Human Mutation

Colombo, Mara M; Lòpez-Perolio, Irene I; Meeks, Huong D HD; Caleca, Laura L; Parsons, Michael T MT; Li, Hongyan H; De Vecchi, Giovanna G; Tudini, Emma E; Foglia, Claudia C; Mondini, Patrizia P; Manoukian, Siranoush S; Behar, Raquel R; Garcia, Encarna B Gómez EBG; Meindl, Alfons A; Montagna, Marco M; Niederacher, Dieter D; Schmidt, Ane Y AY; Varesco, Liliana L; Wappenschmidt, Barbara B; Bolla, Manjeet K MK; Dennis, Joe J; Michailidou, Kyriaki K; Wang, Qin Q; Aittomäki, Kristiina K; Andrulis, Irene L IL; Anton-Culver, Hoda H; Arndt, Volker V; Beckmann, Matthias W MW; Beeghly-Fadel, Alicia A; Benitez, Javier J; Boeckx, Bram B; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bonanni, Bernardo B; Brauch, Hiltrud H; Brenner, Hermann H; Burwinkel, Barbara B; Chang-Claude, Jenny J; Conroy, Don M DM; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Devilee, Peter P; Dörk, Thilo T; Eriksson, Mikael M; Fasching, Peter A PA; Figueroa, Jonine J; Fletcher, Olivia O; Flyger, Henrik H; Gabrielson, Marike M; García-Closas, Montserrat M; Giles, Graham G GG; González-Neira, Anna A; Guénel, Pascal P; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Hartman, Mikael M; Hauke, Jan J; Hollestelle, Antoinette A; Hopper, John L JL; Jakubowska, Anna A; Jung, Audrey A; Kosma, Veli-Matti VM; Lambrechts, Diether D; Le Marchand, Loid L; Lindblom, Annika A; Lubinski, Jan J; Mannermaa, Arto A; Margolin, Sara S; Miao, Hui H; Milne, Roger L RL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Olson, Janet E JE; Peterlongo, Paolo P; Peto, Julian J; Pylkäs, Katri K; Sawyer, Elinor J EJ; Schmidt, Marjanka K MK; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; See, Mee Hoong MH; Southey, Melissa C MC; Swerdlow, Anthony A; Teo, Soo H SH; Toland, Amanda E AE; Tomlinson, Ian I; Truong, Thérèse T; van Asperen, Christi J CJ; van den Ouweland, Ans M W AMW; van der Kolk, Lizet E LE; Winqvist, Robert R; Yannoukakos, Drakoulis D; Zheng, Wei W; , ; Dunning, Alison M AM; Easton, Douglas F DF; Henderson, Alex A; Hogervorst, Frans B L FBL; Izatt, Louise L; Offitt, Kenneth K; Side, Lucy E LE; van Rensburg, Elizabeth J EJ; Embrace, Study S; Hebon, Study S; McGuffog, Lesley L; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Goldgar, David E DE; Hoya, Miguel de la M; Radice, Paolo P

Publication Date: 2018-05

Variant appearance in text: BRCA2: 68-7T>A; rs81002830

PubMed Link: 29460995

Variant Present in the following documents:

• Main text
• HUMU-39-729.pdf

View BVdb publication page

---

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: BRCA2: 68-7T>A; rs81002830

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

---

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Bmc Medical Genomics

Kluska, Anna A; Balabas, Aneta A; Paziewska, Agnieszka A; Kulecka, Maria M; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2015-05-07

Variant appearance in text: rs81002830

PubMed Link: 25948282

Variant Present in the following documents:

• 12920_2015_92_MOESM1_ESM.xlsx, sheet 2
• 12920_2015_92_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs81002830

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

---