Publications:

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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: BRCA1: 2709T>A; Cys903Ter

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient.

International Journal Of Molecular Sciences

Kwong, Ava A; Ho, Cecilia Y S CYS; Shin, Vivian Y VY; Au, Chun Hang CH; Chan, Tsun Leung TL; Ma, Edmond S K ESK

Publication Date: 2021-01-17

Variant appearance in text: BRCA1: Cys903*

PubMed Link: 33477375

Variant Present in the following documents:

• Main text
• ijms-22-00889.pdf

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Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.

Journal Of Medical Genetics

Chirita-Emandi, Adela A; Andreescu, Nicoleta N; Popa, Cristina C; Mihailescu, Alexandra A; Riza, Anca-Lelia AL; Plesea, Razvan R; Ioana, Mihai M; Arghirescu, Smaranda S; Puiu, Maria M

Publication Date: 2021-09

Variant appearance in text: BRCA1: 2709T>A; Cys903*

PubMed Link: 32843487

Variant Present in the following documents:

• Main text

View BVdb publication page

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SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.

Clinics (Sao Paulo, Brazil)

Lerario, Antonio Marcondes AM; Mohan, Dipika R DR; Montenegro, Luciana Ribeiro LR; Funari, Mariana Ferreira de Assis MFA; Nishi, Mirian Yumie MY; Narcizo, Amanda de Moraes AM; Benedetti, Anna Flavia Figueredo AFF; Oba-Shinjo, Sueli Mieko SM; Vitorino, Aurélio José AJ; Santos, Rogério Alexandre Scripnic Xavier Dos RASXD; Jorge, Alexander Augusto de Lima AAL; Onuchic, Luiz Fernando LF; Marie, Suely Kazue Nagahashi SKN; Mendonca, Berenice Bilharinho BB

Publication Date: 2020

Variant appearance in text: BRCA1: Cys903X

PubMed Link: 32785571

Variant Present in the following documents:

• Main text
• cln-75-1913.pdf

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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: 2709T>A; Cys903X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.

Molecular Genetics & Genomic Medicine

Keupp, Katharina K; Hampp, Stephanie S; Hübbel, Annette A; Maringa, Monika M; Kostezka, Sarah S; Rhiem, Kerstin K; Waha, Anke A; Wappenschmidt, Barbara B; Pujol, Roser R; Surrallés, Jordi J; Schmutzler, Rita K RK; Wiesmüller, Lisa L; Hahnen, Eric E

Publication Date: 2019-09

Variant appearance in text: BRCA1: Cys903*

PubMed Link: 31347298

Variant Present in the following documents:

• Main text
• MGG3-7-e863.pdf

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Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Seo, Aaron A; Steinberg-Shemer, Orna O; Unal, Sule S; Casadei, Silvia S; Walsh, Tom T; Gumruk, Fatma F; Shalev, Stavit S; Shimamura, Akiko A; Akarsu, Nurten Ayse NA; Tamary, Hannah H; King, Mary-Claire MC

Publication Date: 2018-05-15

Variant appearance in text: BRCA1: 2709T>A; C903X

PubMed Link: 29712865

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel crosstalk between BRCA1 and sirtuin 1 in ovarian cancer.

Scientific Reports

Li, Da D; Bi, Fang-Fang FF; Chen, Na-Na NN; Cao, Ji-Min JM; Sun, Wu-Ping WP; Zhou, Yi-Ming YM; Li, Chun-Yan CY; Yang, Qing Q

Publication Date: 2014-10-17

Variant appearance in text: BRCA1: 2709T>A; C903X

PubMed Link: 25323003

Variant Present in the following documents:

• srep06666-s1.pdf

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Effect of BRCA1 on epidermal growth factor receptor in ovarian cancer.

Journal Of Experimental & Clinical Cancer Research : Cr

Li, Da D; Bi, Fang-Fang FF; Cao, Ji-Min JM; Cao, Chen C; Li, Chun-Yan CY; Yang, Qing Q

Publication Date: 2013-12-09

Variant appearance in text: BRCA1: 2709T>A; C903X

PubMed Link: 24321281

Variant Present in the following documents:

• 1756-9966-32-102-S1.pdf

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