Publications:

---

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One

Rao, Nandana D ND; Shirts, Brian H BH

Publication Date: 2023

Variant appearance in text: BRCA2: 7588C>T

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

View BVdb publication page

---

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: 7588C>T; Gln2530*

PubMed Link: 36385461

Variant Present in the following documents:

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

View BVdb publication page

---

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology

Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X

Publication Date: 2021-03-10

Variant appearance in text: BRCA2: Q2530X

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC.

Hereditary Cancer In Clinical Practice

Xu, Zheyuan Z; Wang, Yang Y; Wang, Lan L; Cui, Fengxian F; Zhang, Libin L; Xiong, Jian J; Peng, Hao H

Publication Date: 2021-02-09

Variant appearance in text: BRCA2: Q2530*

PubMed Link: 33563323

Variant Present in the following documents:

• Main text
• 13053_2021_Article_174.pdf

View BVdb publication page

---

Impact of mutations in homologous recombination repair genes on treatment outcomes for metastatic castration resistant prostate cancer.

Plos One

Carlson, Alexander S AS; Acevedo, Rigo I RI; Lim, Daniel M DM; Gulati, Roman R; Gawne, Agnes A; Sokolova, Alexandra O AO; Cheng, Heather H HH; Nelson, Peter S PS; Montgomery, R Bruce RB; Yu, Evan Y EY; Schweizer, Michael T MT

Publication Date: 2020

Variant appearance in text: BRCA2: Q2530X

PubMed Link: 32997692

Variant Present in the following documents:

• pone.0239686.s003.pdf

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: 7588C>T; Gln2530X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Fertility preservation in BRCA mutation carriers-efficacy and safety issues: a review.

Reproductive Biology And Endocrinology : Rb&E

Zhang, Xiaofu X; Niu, Jingxin J; Che, Tuanjie T; Zhu, Yibei Y; Zhang, Hongtao H; Qu, Jing J

Publication Date: 2020-02-18

Variant appearance in text: BRCA2: 7588C>T

PubMed Link: 32070378

Variant Present in the following documents:

• 12958_2019_Article_561.pdf

View BVdb publication page

---

Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.

Bmc Cancer

Cao, Wen-Ming WM; Zheng, Ya-Bing YB; Gao, Yun Y; Ding, Xiao-Wen XW; Sun, Yan Y; Huang, Yuan Y; Lou, Cai-Jin CJ; Pan, Zhi-Wen ZW; Peng, Guang G; Wang, Xiao-Jia XJ

Publication Date: 2019-06-07

Variant appearance in text: BRCA2: 7588C>T; Gln2530Ter

PubMed Link: 31174498

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5765.pdf

View BVdb publication page

---

A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling.

The Prostate

Cheng, Heather H HH; Klemfuss, Nola N; Montgomery, Bruce B; Higano, Celestia S CS; Schweizer, Michael T MT; Mostaghel, Elahe A EA; McFerrin, Lisa G LG; Yu, Evan Y EY; Nelson, Peter S PS; Pritchard, Colin C CC

Publication Date: 2016-10

Variant appearance in text: BRCA2: Q2530X

PubMed Link: 27324988

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.

Bmc Cancer

Cao, Wen-Ming WM; Gao, Yun Y; Yang, Hong-Jian HJ; Xie, Shang-Nao SN; Ding, Xiao-Wen XW; Pan, Zhi-Wen ZW; Ye, Wei-Wu WW; Wang, Xiao-Jia XJ

Publication Date: 2016-02-06

Variant appearance in text: BRCA2: Q2530X

PubMed Link: 26852015

Variant Present in the following documents:

• Main text
• 12885_2016_Article_2107.pdf

View BVdb publication page

---