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: BRCA1: S1212P

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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Highly sensitive fusion detection using plasma cell-free RNA in non-small-cell lung cancers.

Cancer Science

Hasegawa, Nobuhiko N; Kohsaka, Shinji S; Kurokawa, Kana K; Shinno, Yuki Y; Takeda Nakamura, Ikuko I; Ueno, Toshihide T; Kojima, Shinya S; Kawazu, Masahito M; Suehara, Yoshiyuki Y; Ishijima, Muneaki M; Goto, Yasushi Y; Kojima, Yuki Y; Yonemori, Kan K; Hayashi, Takuo T; Saito, Tsuyoshi T; Shukuya, Takehito T; Takahashi, Fumiyuki F; Takahashi, Kazuhisa K; Mano, Hiroyuki H

Publication Date: 2021-10

Variant appearance in text: BRCA1: S1212P

PubMed Link: 34310819

Variant Present in the following documents:

• Main text
• CAS-112-4393.pdf

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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: BRCA1: S1212P

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

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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: BRCA1: 3634T>C; Ser1212Pro

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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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: BRCA1: S1212P

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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