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Tandem BRCT Domains: DNA's Praetorian Guard.

Genes & cancer

Mesquita RD, Woods NT, Seabra-Junior ES, Monteiro AN.
PMID: 21533002
Genes Cancer. 2010 Nov;1(11):1140-6. doi: 10.1177/1947601910392988.

The cell's ability to sense and respond to specific stimuli is a complex system derived from precisely regulated protein-protein interactions. Some of these protein-protein interactions are mediated by the recognition of linear peptide motifs by protein modular domains. BRCT...

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

NPJ genomic medicine

Woods NT, Baskin R, Golubeva V, Jhuraney A, De-Gregoriis G, Vaclova T, Goldgar DE, Couch FJ, Carvalho MA, Iversen ES, Monteiro AN.
PMID: 28781887
NPJ Genom Med. 2016;1. doi: 10.1038/npjgenmed.2016.1. Epub 2016 Mar 02.

Variants of Uncertain Significance (VUS) are genetic variants whose association with a disease phenotype has not been established. They are a common finding in sequencing-based genetic tests and pose a significant clinical challenge. The objective of this study was...

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.

NPJ breast cancer

Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ.
PMID: 28649662
NPJ Breast Cancer. 2017 Jun 09;3:22. doi: 10.1038/s41523-017-0024-8. eCollection 2017.

Understanding the gene-specific risks for development of breast cancer will lead to improved clinical care for those carrying germline mutations in cancer predisposition genes. We sought to detail the spectrum of mutations and refine risk estimates for known and...

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

NPJ breast cancer

Hart SN, Polley EC, Shimelis H, Yadav S, Couch FJ.
PMID: 32377563
NPJ Breast Cancer. 2020 Apr 29;6:13. doi: 10.1038/s41523-020-0159-x. eCollection 2020.

In silico predictions of missense variants is an important consideration when interpreting variants of uncertain significance (VUS) in the

Germline Missense Variants in .

Cancers

Golubeva VA, Nepomuceno TC, Monteiro ANA.
PMID: 31013702
Cancers (Basel). 2019 Apr 12;11(4). doi: 10.3390/cancers11040522.

Genetic testing allows for the identification of germline DNA variations, which are associated with a significant increase in the risk of developing breast cancer (BC) and ovarian cancer (OC). Detection of a

The .

NPJ breast cancer

Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surrallés J, Peterlongo P.
PMID: 31700994
NPJ Breast Cancer. 2019 Nov 01;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019.

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes

Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

Morra A, Jung AY, Behrens S, Keeman R, Ahearn TU, Anton-Culver H, Arndt V, Augustinsson A, Auvinen PK, Beane Freeman LE, Becher H, Beckmann MW, Blomqvist C, Bojesen SE, Bolla MK, Brenner H, Briceno I, Brucker SY, Camp NJ, Campa D, Canzian F, Castelao JE, Chanock SJ, Choi JY, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Dörk T, Dunning AM, Dwek M, Easton DF, Eccles DM, Egan KM, Evans DG, Fasching PA, Flyger H, Gago-Dominguez M, Gapstur SM, García-Sáenz JA, Gaudet MM, Giles GG, Grip M, Guénel P, Haiman CA, Håkansson N, Hall P, Hamann U, Han SN, Hart SN, Hartman M, Heyworth JS, Hoppe R, Hopper JL, Hunter DJ, Ito H, Jager A, Jakimovska M, Jakubowska A, Janni W, Kaaks R, Kang D, Kapoor PM, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Lacey JV, Lambrechts D, Le Marchand L, Li J, Lindblom A, Lubiński J, Lush M, Mannermaa A, Manoochehri M, Margolin S, Mariapun S, Matsuo K, Mavroudis D, Milne RL, Muranen TA, Newman WG, Noh DY, Nordestgaard BG, Obi N, Olshan AF, Olsson H, Park-Simon TW, Petridis C, Pharoah PDP, Plaseska-Karanfilska D, Presneau N, Rashid MU, Rennert G, Rennert HS, Rhenius V, Romero A, Saloustros E, Sawyer EJ, Schneeweiss A, Schwentner L, Scott C, Shah M, Shen CY, Shu XO, Southey MC, Stram DO, Tamimi RM, Tapper W, Tollenaar RAEM, Tomlinson I, Torres D, Troester MA, Truong T, Vachon CM, Wang Q, Wang SS, Williams JA, Winqvist R, Wolk A, Wu AH, Yoo KY, Yu JC, Zheng W, Ziogas A, Yang XR, Eliassen AH, Holmes MD, García-Closas M, Teo SH, Schmidt MK, Chang-Claude J.
PMID: 33500318
Cancer Epidemiol Biomarkers Prev. 2021 Apr;30(4):623-642. doi: 10.1158/1055-9965.EPI-20-0924. Epub 2021 Jan 26.

BACKGROUND: It is not known whether modifiable lifestyle factors that predict survival after invasive breast cancer differ by subtype.METHODS: We analyzed data for 121,435 women diagnosed with breast cancer from 67 studies in the Breast Cancer Association Consortium with...

Showing 1 to 7 of 7 entries