Publications:

---

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: BRCA1: 2931A>G

PubMed Link: 36865205

Variant Present in the following documents:

• media-8.xlsx, sheet 1
• media-10.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: BRCA1: 2931A>G

PubMed Link: 36385461

Variant Present in the following documents:

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

View BVdb publication page

---

A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: BRCA1: 2931A>G

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM5_ESM.xlsx, sheet 1
• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs273899691

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s007.xlsx, sheet 1
• IJC-145-962-s004.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: BRCA1: 2931A>G; Pro977=

PubMed Link: 30630528

Variant Present in the following documents:

• 40246_2018_188_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: N/A

PubMed Link: 30287823

Variant Present in the following documents:

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA1: 2931A>G; Pro977=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Human Mutation

Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV

Publication Date: 2016-07

Variant appearance in text: BRCA1: 2931A>G; P977P

PubMed Link: 26913838

Variant Present in the following documents:

• HUMU-37-627-s001.xlsx, sheet 1

View BVdb publication page

---

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Breast Cancer Research : Bcr

Thirthagiri, E E; Lee, S Y SY; Kang, P P; Lee, D S DS; Toh, G T GT; Selamat, S S; Yoon, S-Y SY; Taib, N A Mohd NA; Thong, M K MK; Yip, C H CH; Teo, S H SH

Publication Date: 2008

Variant appearance in text: N/A

PubMed Link: 18627636

Variant Present in the following documents:

View BVdb publication page

---

BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.

Plos One

Toh, Gaik Theng GT; Kang, Peter P; Lee, Sharlene S W SS; Lee, Daphne Shin-Chi DS; Lee, Sheau Yee SY; Selamat, Suhaida S; Mohd Taib, Nur Aishah NA; Yoon, Sook-Yee SY; Yip, Cheng Har CH; Teo, Soo-Hwang SH

Publication Date: 2008-04-23

Variant appearance in text: BRCA1: 2931A>G; P977P

PubMed Link: 18431501

Variant Present in the following documents:

• Main text

View BVdb publication page

---