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: 2275C>G; Leu759Val

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s006.xlsx, sheet 3

View BVdb publication page

---

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports

Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB

Publication Date: 2022-06-21

Variant appearance in text: BRCA2: L759V

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Genome Medicine

Tsui, Dana W Y DWY; Cheng, Michael L ML; Shady, Maha M; Yang, Julie L JL; Stephens, Dennis D; Won, Helen H; Srinivasan, Preethi P; Huberman, Kety K; Meng, Fanli F; Jing, Xiaohong X; Patel, Juber J; Hasan, Maysun M; Johnson, Ian I; Gedvilaite, Erika E; Houck-Loomis, Brian B; Socci, Nicholas D ND; Selcuklu, S Duygu SD; Seshan, Venkatraman E VE; Zhang, Hongxin H; Chakravarty, Debyani D; Zehir, Ahmet A; Benayed, Ryma R; Arcila, Maria M; Ladanyi, Marc M; Funt, Samuel A SA; Feldman, Darren R DR; Li, Bob T BT; Razavi, Pedram P; Rosenberg, Jonathan J; Bajorin, Dean D; Iyer, Gopa G; Abida, Wassim W; Scher, Howard I HI; Rathkopf, Dana D; Viale, Agnes A; Berger, Michael F MF; Solit, David B DB

Publication Date: 2021-05-31

Variant appearance in text: BRCA2: L759V

PubMed Link: 34059130

Variant Present in the following documents:

• 13073_2021_898_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA2: 2275C>G; Leu759Val

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

The DNA Cytosine Deaminase APOBEC3B is a Molecular Determinant of Platinum Responsiveness in Clear Cell Ovarian Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Serebrenik, Artur A AA; Argyris, Prokopios P PP; Jarvis, Matthew C MC; Brown, William L WL; Bazzaro, Martina M; Vogel, Rachel I RI; Erickson, Britt K BK; Lee, Sun-Hee SH; Goergen, Krista M KM; Maurer, Matthew J MJ; Heinzen, Ethan P EP; Oberg, Ann L AL; Huang, Yajue Y; Hou, Xiaonan X; Weroha, S John SJ; Kaufmann, Scott H SH; Harris, Reuben S RS

Publication Date: 2020-07-01

Variant appearance in text: BRCA2: L759V

PubMed Link: 32060098

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ

Publication Date: 2019-01

Variant appearance in text: BRCA2: L759V

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

---

Therapeutic potential of the poly(ADP-ribose) polymerase inhibitor rucaparib for the treatment of sporadic human ovarian cancer.

Molecular Cancer Therapeutics

Ihnen, Maike M; zu Eulenburg, Christine C; Kolarova, Teodora T; Qi, Jing Wei JW; Manivong, Kanthinh K; Chalukya, Meenal M; Dering, Judy J; Anderson, Lee L; Ginther, Charles C; Meuter, Alexandra A; Winterhoff, Boris B; Jones, Siân S; Velculescu, Victor E VE; Venkatesan, Natarajan N; Rong, Hong-Mei HM; Dandekar, Sugandha S; Udar, Nitin N; Jänicke, Fritz F; Los, Gerrit G; Slamon, Dennis J DJ; Konecny, Gottfried E GE

Publication Date: 2013-06

Variant appearance in text: BRCA2: 2275C>G; L759V

PubMed Link: 23729402

Variant Present in the following documents:

• Main text

View BVdb publication page

---