Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: BRCA1: C1787S

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

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Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Scientific Reports

Nepomuceno, Thales C TC; Dos Santos, Ana P P APP; Fernandes, Vanessa C VC; Elias, Anna B R ABR; Gomes, Thiago T TT; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA

Publication Date: 2022-09-28

Variant appearance in text: BRCA1: C1787S

PubMed Link: 36171434

Variant Present in the following documents:

• 41598_2022_20500_MOESM1_ESM.pdf

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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: C1787S

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Npj Genomic Medicine

Iversen, Edwin S ES; Lipton, Gary G; Hart, Steven N SN; Lee, Kun Y KY; Hu, Chunling C; Polley, Eric C EC; Pesaran, Tina T; Yussuf, Amal A; LaDuca, Holly H; Chao, Elizabeth E; Karam, Rachid R; Goldgar, David E DE; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA

Publication Date: 2022-06-03

Variant appearance in text: BRCA1: C1787S

PubMed Link: 35665744

Variant Present in the following documents:

• 41525_2022_302_MOESM3_ESM.xlsx, sheet 1
• 41525_2022_302_MOESM3_ESM.xlsx, sheet 5

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

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

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: BRCA1: 5360G>C; C1787S

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Human Genome Variation

Moradian, Mike M MM; Babikyan, Davit T DT; Markarian, Sione S; Petrosyan, Jonny G JG; Avanesian, Nare N; Arutunyan, Tereza T; Sarkisian, Tamara F TF

Publication Date: 2021-02-09

Variant appearance in text: BRCA1: Cys1787Ser

PubMed Link: 33558524

Variant Present in the following documents:

• 41439_2021_140_MOESM3_ESM.pdf

View BVdb publication page

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Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.

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

Lyra, Paulo C M PCM; Nepomuceno, Thales C TC; de Souza, Marcele L M MLM; Machado, Géssica F GF; Veloso, Mariana F MF; Henriques, Taciane B TB; Dos Santos, Diandra Z DZ; Ribeiro, Iuly G IG; Ribeiro, Roberto S RS; Rangel, Leticia B A LBA; Richardson, Marcy M; Iversen, Edwin S ES; Goldgar, David D; Couch, Fergus J FJ; Carvalho, Marcelo A MA; Monteiro, Alvaro N A ANA

Publication Date: 2021-02

Variant appearance in text: BRCA1: C1787S

PubMed Link: 33087888

Variant Present in the following documents:

• Main text
• 41436_2020_Article_991.pdf
• 41436_2020_991_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: 5360G>C; Cys1787Ser

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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In silico analysis for determining the deleterious nonsynonymous single nucleotide polymorphisms of BRCA genes.

Molecular Biology Research Communications

Yadegari, Fatemeh F; Majidzadeh, Keivan K

Publication Date: 2019-12

Variant appearance in text: BRCA1: Cys1787Ser

PubMed Link: 32042831

Variant Present in the following documents:

• Main text
• mbrc-8-141.pdf

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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5360G>C; C1787S

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page

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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: C1787S

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

Bmc Medical Genomics

Ernst, Corinna C; Hahnen, Eric E; Engel, Christoph C; Nothnagel, Michael M; Weber, Jonas J; Schmutzler, Rita K RK; Hauke, Jan J

Publication Date: 2018-03-27

Variant appearance in text: BRCA1: C1787S

PubMed Link: 29580235

Variant Present in the following documents:

• 12920_2018_353_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Hypoxia-Activated Alkylating Agents in BRCA1-Mutant Ovarian Serous Carcinoma.

Cureus

Conroy, Michael M; Borad, Mitesh J MJ; Bryce, Alan H AH

Publication Date: 2017-07-26

Variant appearance in text: BRCA1: C1787S

PubMed Link: 28959512

Variant Present in the following documents:

• Main text
• cureus-0009-00000001517.pdf

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Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Npj Genomic Medicine

Woods, Nicholas T NT; Baskin, Rebekah R; Golubeva, Volha V; Jhuraney, Ankita A; De-Gregoriis, Giuliana G; Vaclova, Tereza T; Goldgar, David E DE; Couch, Fergus J FJ; Carvalho, Marcelo Alex MA; Iversen, Edwin S ES; Monteiro, Alvaro Na AN

Publication Date: 2016

Variant appearance in text: BRCA1: C1787S

PubMed Link: 28781887

Variant Present in the following documents:

• Main text
• npjgenmed20161.pdf

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Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.

American Journal Of Cancer Research

Nahleh, Zeina Z; Otoukesh, Salman S; Dwivedi, Alok Kumar AK; Mallawaarachchi, Indika I; Sanchez, Luis L; Saldivar, J Salvador JS; Cataneda, Kayla K; Heydarian, Rosalinda R

Publication Date: 2015

Variant appearance in text: BRCA1: C1787S

PubMed Link: 25628955

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Torres-Mejía, Gabriela G; Royer, Robert R; Llacuachaqui, Marcia M; Akbari, Mohammad R MR; Giuliano, Anna R AR; Martínez-Matsushita, Louis L; Angeles-Llerenas, Angélica A; Ortega-Olvera, Carolina C; Ziv, Elad E; Lazcano-Ponce, Eduardo E; Phelan, Catherine M CM; Narod, Steven A SA

Publication Date: 2015-03

Variant appearance in text: BRCA1: C1787S

PubMed Link: 25371446

Variant Present in the following documents:

• Main text

View BVdb publication page

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A guide for functional analysis of BRCA1 variants of uncertain significance.

Human Mutation

Millot, Gaël A GA; Carvalho, Marcelo A MA; Caputo, Sandrine M SM; Vreeswijk, Maaike P G MP; Brown, Melissa A MA; Webb, Michelle M; Rouleau, Etienne E; Neuhausen, Susan L SL; Hansen, Thomas v O Tv; Galli, Alvaro A; Brandão, Rita D RD; Blok, Marinus J MJ; Velkova, Aneliya A; Couch, Fergus J FJ; Monteiro, Alvaro N A AN; ,

Publication Date: 2012-11

Variant appearance in text: BRCA1: Cys1787Ser

PubMed Link: 22753008

Variant Present in the following documents:

• Main text

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Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

Cancer Research

Lee, Megan S MS; Green, Ruth R; Marsillac, Sylvia M SM; Coquelle, Nicolas N; Williams, R Scott RS; Yeung, Telford T; Foo, Desmond D; Hau, D Duong DD; Hui, Ben B; Monteiro, Alvaro N A AN; Glover, J N Mark JN

Publication Date: 2010-06-15

Variant appearance in text: BRCA1: C1787S

PubMed Link: 20516115

Variant Present in the following documents:

• Main text

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Toward classification of BRCA1 missense variants using a biophysical approach.

The Journal Of Biological Chemistry

Rowling, Pamela J E PJ; Cook, Rebecca R; Itzhaki, Laura S LS

Publication Date: 2010-06-25

Variant appearance in text: BRCA1: C1787S

PubMed Link: 20378548

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Breast Cancer Research : Bcr

Lee, Eunjung E; McKean-Cowdin, Roberta R; Ma, Huiyan H; Chen, Zhengjia Z; Van Den Berg, David D; Henderson, Brian E BE; Bernstein, Leslie L; Ursin, Giske G

Publication Date: 2008

Variant appearance in text: BRCA1: C1787S

PubMed Link: 18284688

Variant Present in the following documents:

View BVdb publication page

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Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

American Journal Of Human Genetics

Goldgar, David E DE; Easton, Douglas F DF; Deffenbaugh, Amie M AM; Monteiro, Alvaro N A AN; Tavtigian, Sean V SV; Couch, Fergus J FJ; ,

Publication Date: 2004-10

Variant appearance in text: BRCA1: C1787S

PubMed Link: 15290653

Variant Present in the following documents:

• Main text

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