Publications:

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DNA Damage Response in Cancer Therapy and Resistance: Challenges and Opportunities.

International Journal Of Molecular Sciences

Jurkovicova, Dana D; Neophytou, Christiana M CM; Gašparović, Ana Čipak AČ; Gonçalves, Ana Cristina AC

Publication Date: 2022-11-24

Variant appearance in text: BRCA1: T1799A

PubMed Link: 36499000

Variant Present in the following documents:

• ijms-23-14672.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: T1799A

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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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: 5395A>G; T1799A

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.

Molecular Oncology

Yu, Le L; Zhou, Dan D; Zhang, Guiming G; Ren, Zhonglu Z; Luo, Xin X; Liu, Peng P; Plouffe, Steven W SW; Meng, Zhipeng Z; Moroishi, Toshiro T; Li, Yilei Y; Zhang, Yiyue Y; Brown, Joan Heller JH; Liu, Shuwen S; Guan, Kun-Liang KL

Publication Date: 2022-02

Variant appearance in text: BRCA1: T1799A

PubMed Link: 34706158

Variant Present in the following documents:

• MOL2-16-607.pdf

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Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.

Molecular Oncology

Yu, Le L; Zhou, Dan D; Zhang, Guiming G; Ren, Zhonglu Z; Luo, Xin X; Liu, Peng P; Plouffe, Steven W SW; Meng, Zhipeng Z; Moroishi, Toshiro T; Li, Yilei Y; Zhang, Yiyue Y; Brown, Joan Heller JH; Liu, Shuwen S; Guan, Kun-Liang KL

Publication Date: 2021-10-27

Variant appearance in text: BRCA1: T1799A

PubMed Link: 34706158

Variant Present in the following documents:

• MOL2-16-607.pdf

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Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Frontiers In Genetics

Chunn, Lauren M LM; Nefcy, Diane C DC; Scouten, Rachel W RW; Tarpey, Ryan P RP; Chauhan, Gurinder G; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ; Schwartz, Steven A SA; Kiel, Mark J MJ

Publication Date: 2020

Variant appearance in text: BRCA1: T1799A

PubMed Link: 33281875

Variant Present in the following documents:

• Main text
• fgene-11-577152.pdf

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Current prognostic and predictive biomarkers for gastrointestinal tumors in clinical practice.

Pathologica

Fassan, Matteo M; Scarpa, Aldo A; Remo, Andrea A; De Maglio, Giovanna G; Troncone, Giancarlo G; Marchetti, Antonio A; Doglioni, Claudio C; Ingravallo, Giuseppe G; Perrone, Giuseppe G; Parente, Paola P; Luchini, Claudio C; Mastracci, Luca L

Publication Date: 2020-09

Variant appearance in text: BRCA1: T1799A

PubMed Link: 33179625

Variant Present in the following documents:

• Main text
• pathol-2020-03-248.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: 5395A>G; Thr1799Ala

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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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: 5395A>G; T1799A

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

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Review of the possible association between thyroid and breast carcinoma.

World Journal Of Surgical Oncology

Dong, Liangbo L; Lu, Jun J; Zhao, Bangbo B; Wang, Weibin W; Zhao, Yupei Y

Publication Date: 2018-07-05

Variant appearance in text: BRCA1: T1799A

PubMed Link: 29976206

Variant Present in the following documents:

• 12957_2018_Article_1436.pdf

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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: T1799A

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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The Association of BRAF V600E Mutation With Tissue Inhibitor of Metalloproteinase-3 Expression and Clinicopathological Features in Papillary Thyroid Cancer.

International Journal Of Endocrinology And Metabolism

Zarkesh, Maryam M; Zadeh-Vakili, Azita A; Azizi, Fereidoun F; Fanaei, S Ahmad SA; Foroughi, Forough F; Hedayati, Mehdi M

Publication Date: 2018-04

Variant appearance in text: BRCA1: T1799A

PubMed Link: 29868127

Variant Present in the following documents:

• ijem-16-02-56120.pdf

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Familial risk for lung cancer.

Oncology Letters

Kanwal, Madiha M; Ding, Xiao-Ji XJ; Cao, Yi Y

Publication Date: 2017-02

Variant appearance in text: BRCA1: T1799A

PubMed Link: 28356926

Variant Present in the following documents:

• Main text

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The biology of uveal melanoma.

Cancer Metastasis Reviews

Amaro, Adriana A; Gangemi, Rosaria R; Piaggio, Francesca F; Angelini, Giovanna G; Barisione, Gaia G; Ferrini, Silvano S; Pfeffer, Ulrich U

Publication Date: 2017-03

Variant appearance in text: BRCA1: T1799A

PubMed Link: 28229253

Variant Present in the following documents:

• 10555_2017_Article_9663.pdf

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The genetics of uveal melanoma: current insights.

The Application Of Clinical Genetics

Helgadottir, Hildur H; Höiom, Veronica V

Publication Date: 2016

Variant appearance in text: BRCA1: T1799A

PubMed Link: 27660484

Variant Present in the following documents:

• tacg-9-147.pdf

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Molecular genetics of thyroid cancer.

Genetics Research

Rebaї, Maha M; Rebaї, Ahmed A

Publication Date: 2016-05-13

Variant appearance in text: BRCA1: T1799A

PubMed Link: 27174043

Variant Present in the following documents:

• Main text

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The clinical value of aberrant epigenetic changes of DNA damage repair genes in human cancer.

Oncotarget

Gao, Dan D; Herman, James G JG; Guo, Mingzhou M

Publication Date: 2016-06-14

Variant appearance in text: BRCA1: T1799A

PubMed Link: 26967246

Variant Present in the following documents:

• oncotarget-07-37331.pdf

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EZH2: not EZHY (easy) to deal.

Molecular Cancer Research : Mcr

Deb, Gauri G; Singh, Anup Kumar AK; Gupta, Sanjay S

Publication Date: 2014-05

Variant appearance in text: BRCA1: T1799A

PubMed Link: 24526064

Variant Present in the following documents:

• Main text

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Longitudinal study of recurrent metastatic melanoma cell lines underscores the individuality of cancer biology.

The Journal Of Investigative Dermatology

Pos, Zoltan Z; Spivey, Tara L TL; Liu, Hui H; Sommariva, Michele M; Chen, Jinguo J; Wunderlich, John R JR; Parisi, Giulia G; Tomei, Sara S; Ayotte, Ben D BD; Stroncek, David F DF; Malek, Joel A JA; Robbins, Paul F PF; Rivoltini, Licia L; Maio, Michele M; Chouchane, Lotfi L; Wang, Ena E; Marincola, Francesco M FM

Publication Date: 2014-05

Variant appearance in text: BRCA1: T1799A

PubMed Link: 24270663

Variant Present in the following documents:

• nihms542466.pdf

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Colorectal cancer: molecular mutations and polymorphisms.

Frontiers In Oncology

Sameer, Aga Syed AS

Publication Date: 2013

Variant appearance in text: BRCA1: T1799A

PubMed Link: 23717813

Variant Present in the following documents:

• Main text
• fonc-03-00114.pdf

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The role of epigenetic alterations in papillary thyroid carcinogenesis.

Journal Of Thyroid Research

Eze, Ogechukwu P OP; Starker, Lee F LF; Carling, Tobias T

Publication Date: 2011

Variant appearance in text: BRCA1: T1799A

PubMed Link: 21765995

Variant Present in the following documents:

• JTR2011-895470.pdf

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Personalized medicine: the future is not what it used to be.

Surgery

Demeure, Michael J MJ

Publication Date: 2009-12

Variant appearance in text: BRCA1: T1799A

PubMed Link: 19958922

Variant Present in the following documents:

• Main text

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