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: S50A

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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Proceedings to the 2020 Online Conference of the Particle Therapy Cooperative Group (PTCOG2020Online): 13-14 September 2020Organized by the Particle Therapy Cooperative Group (PTCOG), this special online meeting featured abstracts and programs that enabled the communication and cross fertilization for which PTCOG meetings are known.

International Journal Of Particle Therapy

Publication Date: 2021

Variant appearance in text: BRCA2: s50a

PubMed Link: 33829075

Variant Present in the following documents:

• Main text

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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: BRCA2: 148T>G; Ser50Ala

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: BRCA2: S50A

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Targeted exome sequencing of Korean triple-negative breast cancer reveals homozygous deletions associated with poor prognosis of adjuvant chemotherapy-treated patients.

Oncotarget

Jeong, Hae Min HM; Kim, Ryong Nam RN; Kwon, Mi Jeong MJ; Oh, Ensel E; Han, Jinil J; Lee, Se Kyung SK; Choi, Jong-Sun JS; Park, Sara S; Nam, Seok Jin SJ; Gong, Gyung Yup GY; Nam, Jin Wu JW; Choi, Doo Ho DH; Lee, Hannah H; Nam, Byung-Ho BH; Choi, Yoon-La YL; Shin, Young Kee YK

Publication Date: 2017-09-22

Variant appearance in text: BRCA2: 148T>G

PubMed Link: 28977883

Variant Present in the following documents:

• Main text

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