Literature DB >> 35064222

Index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes.

Malak Abedalthagafi1.   

Abstract

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Year:  2022        PMID： 35064222      PMCID： PMC8991238          DOI： 10.1038/s41431-021-01030-5

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  5 in total

1.  Two decades after BRCA: setting paradigms in personalized cancer care and prevention.

Authors:  Fergus J Couch; Katherine L Nathanson; Kenneth Offit
Journal:  Science       Date:  2014-03-28       Impact factor: 47.728

2.  Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

Authors:  Rachel Pearlman; Wendy L Frankel; Benjamin Swanson; Weiqiang Zhao; Ahmet Yilmaz; Kristin Miller; Jason Bacher; Christopher Bigley; Lori Nelsen; Paul J Goodfellow; Richard M Goldberg; Electra Paskett; Peter G Shields; Jo L Freudenheim; Peter P Stanich; Ilene Lattimer; Mark Arnold; Sandya Liyanarachchi; Matthew Kalady; Brandie Heald; Carla Greenwood; Ian Paquette; Marla Prues; David J Draper; Carolyn Lindeman; J Philip Kuebler; Kelly Reynolds; Joanna M Brell; Amy A Shaper; Sameer Mahesh; Nicole Buie; Kisa Weeman; Kristin Shine; Mitchell Haut; Joan Edwards; Shyamal Bastola; Karen Wickham; Karamjit S Khanduja; Rosemary Zacks; Colin C Pritchard; Brian H Shirts; Angela Jacobson; Brian Allen; Albert de la Chapelle; Heather Hampel
Journal:  JAMA Oncol       Date:  2017-04-01       Impact factor: 31.777

Review 3.  New insights into the generation and role of de novo mutations in health and disease.

Authors:  Rocio Acuna-Hidalgo; Joris A Veltman; Alexander Hoischen
Journal:  Genome Biol       Date:  2016-11-28       Impact factor: 13.583

4.  30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes.

Authors:  Emma R Woodward; Kate Green; George J Burghel; Michael Bulman; Tara Clancy; Fiona Lalloo; Helene Schlecht; Andrew J Wallace; D Gareth Evans
Journal:  Eur J Hum Genet       Date:  2021-12-06       Impact factor: 4.246

5.  Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer.

Authors:  Pia Alhopuro; Reetta Vainionpää; Anna-Kaisa Anttonen; Kristiina Aittomäki; Heli Nevanlinna; Minna Pöyhönen
Journal:  Fam Cancer       Date:  2020-05-28       Impact factor: 2.375
  5 in total

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