Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 11 of 11 entries
Sorted by: Best Match Show Resources per page
Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia.

Hereditary cancer in clinical practice

Hernández JE, Llacuachaqui M, Palacio GV, Figueroa JD, Madrid J, Lema M, Royer R, Li S, Larson G, Weitzel JN, Narod SA.
PMID: 24742220
Hered Cancer Clin Pract. 2014 Apr 17;12(1):11. doi: 10.1186/1897-4287-12-11. eCollection 2014.

BACKGROUND: Approximately 5% of all breast cancers can be attributed to a mutation in the BRCA1 or BRCA2 gene. The genetic component of breast cancer in Colombia has been, for the most part, studied on cases from the Bogota...

Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.

Journal of the National Cancer Institute

Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.
PMID: 29618041
J Natl Cancer Inst. 2018 Oct 01;110(10):1059-1066. doi: 10.1093/jnci/djy027.

BACKGROUND: In germline genetic testing, variants from understudied ancestries have been disproportionately classified as being of uncertain significance. We hypothesized that the rate of variant reclassification likewise differs by ancestry.METHODS: Nonbenign variants in actionable genes were collected from consenting...

Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.

Frontiers in oncology

Slavin TP, Niell-Swiller M, Solomon I, Nehoray B, Rybak C, Blazer KR, Weitzel JN.
PMID: 26484312
Front Oncol. 2015 Sep 29;5:208. doi: 10.3389/fonc.2015.00208. eCollection 2015.

BACKGROUND: Multigene panels can be a cost- and time-effective alternative to sequentially testing multiple genes, especially with a mixed family cancer phenotype. However, moving beyond our single-gene testing paradigm has unveiled many new challenges to the clinician. The purpose...

Ingredients for success: a familial cancer clinic in an oncology practice setting.

Journal of oncology practice

Duncan PR, Lin JT.
PMID: 21532809
J Oncol Pract. 2011 Jan;7(1):39-42. doi: 10.1200/JOP.2010.000048.

PURPOSE: Genetic cancer risk assessment (GCRA) has become increasingly important in clinical cancer care. Almost all published information on genetic risk assessment has come from academic institutions. However, a majority of patients with cancer are seen in the community...

A Novel, Likely Pathogenic .

Journal of the Endocrine Society

Lam-Chung CE, Rodríguez LL, Vázquez JA, Chávarri-Guerra Y, Arízaga-Ramírez R, Antonio OF, De Anda González J, López-Hernández MA, Weitzel JN, Castillo D, Gómez-Pérez FJ, Cuevas-Ramos D.
PMID: 34169220
J Endocr Soc. 2021 Jun 03;5(8):bvab085. doi: 10.1210/jendso/bvab085. eCollection 2021 Aug 01.

CONTEXT: Inherited MYC-associated factor X (OBJECTIVE: This report highlights an important approach.METHODS: Clinical assessment, including blood chemistry, imaging studies, and genetic testing were performed.RESULTS: A 38-year-old Hispanic woman was diagnosed with PCC in 2015, treated with adrenalectomy, and referred...

A Novel, Likely Pathogenic .

Journal of the Endocrine Society

Lam-Chung CE, Rodríguez LL, Vázquez JA, Chávarri-Guerra Y, Arízaga-Ramírez R, Antonio OF, De Anda González J, López-Hernández MA, Weitzel JN, Castillo D, Gómez-Pérez FJ, Cuevas-Ramos D.
PMID: 34169220
J Endocr Soc. 2021 Jun 03;5(8):bvab085. doi: 10.1210/jendso/bvab085. eCollection 2021 Aug 01.

CONTEXT: Inherited MYC-associated factor X (OBJECTIVE: This report highlights an important approach.METHODS: Clinical assessment, including blood chemistry, imaging studies, and genetic testing were performed.RESULTS: A 38-year-old Hispanic woman was diagnosed with PCC in 2015, treated with adrenalectomy, and referred...

A Novel, Likely Pathogenic .

Journal of the Endocrine Society

Lam-Chung CE, Rodríguez LL, Vázquez JA, Chávarri-Guerra Y, Arízaga-Ramírez R, Antonio OF, De Anda González J, López-Hernández MA, Weitzel JN, Castillo D, Gómez-Pérez FJ, Cuevas-Ramos D.
PMID: 34169220
J Endocr Soc. 2021 Jun 03;5(8):bvab085. doi: 10.1210/jendso/bvab085. eCollection 2021 Aug 01.

CONTEXT: Inherited MYC-associated factor X (OBJECTIVE: This report highlights an important approach.METHODS: Clinical assessment, including blood chemistry, imaging studies, and genetic testing were performed.RESULTS: A 38-year-old Hispanic woman was diagnosed with PCC in 2015, treated with adrenalectomy, and referred...

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

NPJ breast cancer

Herzog JS, Chavarri-Guerra Y, Castillo D, Abugattas J, Villarreal-Garza C, Sand S, Clague-Dehart J, Alvarez-Gómez RM, Wegman-Ostrosky T, Mohar A, Mora P, Del Toro-Valero A, Daneri-Navarro A, Rodriguez Y, Cruz-Correa M, Ashton-Prolla P, Alemar B, Mejia R, Gallardo L, Shaw R, Yang K, Cervantes A, Tsang K, Nehoray B, Barrera Saldana H, Neuhausen S, Weitzel JN.
PMID: 34413315
NPJ Breast Cancer. 2021 Aug 19;7(1):107. doi: 10.1038/s41523-021-00317-6.

The prevalence and contribution of BRCA1/2 (BRCA) pathogenic variants (PVs) to the cancer burden in Latin America are not well understood. This study aims to address this disparity. BRCA analyses were performed on prospectively enrolled Latin American Clinical Cancer...

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...

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes.

Briefings in bioinformatics

Hart SN, Maxwell KN, Thomas T, Ravichandran V, Wubberhorst B, Klein RJ, Schrader K, Szabo C, Weitzel JN, Neuhausen SL, Nathanson K, Offit K, Couch FJ, Vijai J.
PMID: 26358132
Brief Bioinform. 2016 Jul;17(4):672-7. doi: 10.1093/bib/bbv075. Epub 2015 Sep 10.

The purpose of this article is to inform readers about technical challenges that we encountered when assembling exome sequencing data from the 'Simplifying Complex Exomes' (SIMPLEXO) consortium-whose mandate is the discovery of novel genes predisposing to breast and ovarian...

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

Showing 1 to 11 of 11 entries