Literature DB >> 29323666

The differential diagnosis of a TP53 genetic testing result.

Suzanne P MacFarland1,2, Kara N Maxwell3.   

Abstract

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Year:  2018        PMID: 29323666      PMCID: PMC8885333          DOI: 10.1038/gim.2017.250

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


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  10 in total

1.  Clonal hematopoiesis associated with TET2 deficiency accelerates atherosclerosis development in mice.

Authors:  José J Fuster; Susan MacLauchlan; María A Zuriaga; Maya N Polackal; Allison C Ostriker; Raja Chakraborty; Chia-Ling Wu; Soichi Sano; Sujatha Muralidharan; Cristina Rius; Jacqueline Vuong; Sophia Jacob; Varsha Muralidhar; Avril A B Robertson; Matthew A Cooper; Vicente Andrés; Karen K Hirschi; Kathleen A Martin; Kenneth Walsh
Journal:  Science       Date:  2017-01-19       Impact factor: 47.728

2.  NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017.

Authors:  Mary B Daly; Robert Pilarski; Michael Berry; Saundra S Buys; Meagan Farmer; Susan Friedman; Judy E Garber; Noah D Kauff; Seema Khan; Catherine Klein; Wendy Kohlmann; Allison Kurian; Jennifer K Litton; Lisa Madlensky; Sofia D Merajver; Kenneth Offit; Tuya Pal; Gwen Reiser; Kristen Mahoney Shannon; Elizabeth Swisher; Shaveta Vinayak; Nicoleta C Voian; Jeffrey N Weitzel; Myra J Wick; Georgia L Wiesner; Mary Dwyer; Susan Darlow
Journal:  J Natl Compr Canc Netw       Date:  2017-01       Impact factor: 11.908

Review 3.  Mosaicism in health and disease - clones picking up speed.

Authors:  Lars A Forsberg; David Gisselsson; Jan P Dumanski
Journal:  Nat Rev Genet       Date:  2016-12-12       Impact factor: 53.242

4.  Age-related clonal hematopoiesis associated with adverse outcomes.

Authors:  Siddhartha Jaiswal; Pierre Fontanillas; Jason Flannick; Alisa Manning; Peter V Grauman; Brenton G Mar; R Coleman Lindsley; Craig H Mermel; Noel Burtt; Alejandro Chavez; John M Higgins; Vladislav Moltchanov; Frank C Kuo; Michael J Kluk; Brian Henderson; Leena Kinnunen; Heikki A Koistinen; Claes Ladenvall; Gad Getz; Adolfo Correa; Benjamin F Banahan; Stacey Gabriel; Sekar Kathiresan; Heather M Stringham; Mark I McCarthy; Michael Boehnke; Jaakko Tuomilehto; Christopher Haiman; Leif Groop; Gil Atzmon; James G Wilson; Donna Neuberg; David Altshuler; Benjamin L Ebert
Journal:  N Engl J Med       Date:  2014-11-26       Impact factor: 91.245

5.  Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.

Authors:  Kelly D Gonzalez; Katie A Noltner; Carolyn H Buzin; Dongqing Gu; Cindy Y Wen-Fong; Vu Q Nguyen; Jennifer H Han; Katrina Lowstuter; Jeffrey Longmate; Steve S Sommer; Jeffrey N Weitzel
Journal:  J Clin Oncol       Date:  2009-02-09       Impact factor: 44.544

6.  Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.

Authors:  Mariette Renaux-Petel; Françoise Charbonnier; Jean-Christophe Théry; Pierre Fermey; Gwendoline Lienard; Jacqueline Bou; Sophie Coutant; Myriam Vezain; Edwige Kasper; Steeve Fourneaux; Sandrine Manase; Maud Blanluet; Bruno Leheup; Ludovic Mansuy; Jacqueline Champigneulle; Céline Chappé; Michel Longy; Nicolas Sévenet; Brigitte Bressac-de Paillerets; Léa Guerrini-Rousseau; Laurence Brugières; Olivier Caron; Jean-Christophe Sabourin; Isabelle Tournier; Stéphanie Baert-Desurmont; Thierry Frébourg; Gaëlle Bougeard
Journal:  J Med Genet       Date:  2017-10-25       Impact factor: 6.318

7.  Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.

Authors:  D Malkin; F P Li; L C Strong; J F Fraumeni; C E Nelson; D H Kim; J Kassel; M A Gryka; F Z Bischoff; M A Tainsky
Journal:  Science       Date:  1990-11-30       Impact factor: 47.728

8.  Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.

Authors:  Elizabeth M Swisher; Maria I Harrell; Barbara M Norquist; Tom Walsh; Mark Brady; Ming Lee; Robert Hershberg; Kimberly R Kalli; Heather Lankes; Eric Q Konnick; Colin C Pritchard; Bradley J Monk; John K Chan; Robert Burger; Scott H Kaufmann; Michael J Birrer
Journal:  JAMA Oncol       Date:  2016-03       Impact factor: 31.777

9.  Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Authors:  Mingchao Xie; Charles Lu; Jiayin Wang; Michael D McLellan; Kimberly J Johnson; Michael C Wendl; Joshua F McMichael; Heather K Schmidt; Venkata Yellapantula; Christopher A Miller; Bradley A Ozenberger; John S Welch; Daniel C Link; Matthew J Walter; Elaine R Mardis; John F Dipersio; Feng Chen; Richard K Wilson; Timothy J Ley; Li Ding
Journal:  Nat Med       Date:  2014-10-19       Impact factor: 53.440

10.  Somatic TP53 variants frequently confound germ-line testing results.

Authors:  Jeffrey N Weitzel; Elizabeth C Chao; Bita Nehoray; Lily R Van Tongeren; Holly LaDuca; Kathleen R Blazer; Thomas Slavin; D A B M D Facmg; Tina Pesaran; Christina Rybak; Ilana Solomon; Mariana Niell-Swiller; Jill S Dolinsky; Danielle Castillo; Aaron Elliott; Chia-Ling Gau; Virginia Speare; Kory Jasperson
Journal:  Genet Med       Date:  2017-11-30       Impact factor: 8.822

  10 in total
  1 in total

1.  TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.

Authors:  J J Bakhuizen; F B Hogervorst; M E Velthuizen; M W Ruijs; K van Engelen; T A van Os; J J Gille; M Collée; A M van den Ouweland; C J van Asperen; C M Kets; A R Mensenkamp; E M Leter; M J Blok; M M de Jong; M G Ausems
Journal:  Fam Cancer       Date:  2019-04       Impact factor: 2.375

  1 in total

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