Publications:

---

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: S158A

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: BRCA2: S158A

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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: 472T>G; Ser158Ala

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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: S158A

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

---

ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.

Nature Communications

Batenburg, Nicole L NL; Walker, John R JR; Noordermeer, Sylvie M SM; Moatti, Nathalie N; Durocher, Daniel D; Zhu, Xu-Dong XD

Publication Date: 2017-12-04

Variant appearance in text: BRCA2: S158A

PubMed Link: 29203878

Variant Present in the following documents:

• Main text
• 41467_2017_2114_MOESM2_ESM.pdf
• 41467_2017_Article_2114.pdf

View BVdb publication page

---

Whole-genome resequencing analyses of five pig breeds, including Korean wild and native, and three European origin breeds.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes

Choi, Jung-Woo JW; Chung, Won-Hyong WH; Lee, Kyung-Tai KT; Cho, Eun-Seok ES; Lee, Si-Woo SW; Choi, Bong-Hwan BH; Lee, Sang-Heon SH; Lim, Wonjun W; Lim, Dajeong D; Lee, Yun-Gyeong YG; Hong, Joon-Ki JK; Kim, Doo-Wan DW; Jeon, Hyeon-Jeong HJ; Kim, Jiwoong J; Kim, Namshin N; Kim, Tae-Hun TH

Publication Date: 2015-08

Variant appearance in text: BRCA2: S158A

PubMed Link: 26117497

Variant Present in the following documents:

• supp_dsv011_dsv011supp_table2.xlsx, sheet 2

View BVdb publication page

---