Literature DB >> 28738037

Mosaicism: Implications for Genetic Counseling and Medical Management.

Laura Waldman1, Suzanne M Mahon1.   

Abstract

Mosaicism describes the presence of two or more populations of cells with different genotypes in one individual that have developed from a single fertilized egg. This article reviews the various clinical presentations of mosaicism associated with hereditary cancer syndromes and the challenges in providing patients and their families with appropriate genetic testing, as well as provides recommendations for cancer presentation and early detection. Management of mosaicism is based on personal and family history, along with genetic testing results. 
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Entities:  

Keywords:  Li-Fraumeni syndrome; genetic testing; juvenile polyposis syndrome; mosaicism

Mesh:

Year:  2017        PMID: 28738037     DOI: 10.1188/17.CJON.428-432

Source DB:  PubMed          Journal:  Clin J Oncol Nurs        ISSN: 1092-1095            Impact factor:   1.027


  2 in total

1.  Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.

Authors:  Carlos Rodríguez-Martín; Cristina Robledo; Gema Gómez-Mariano; Sara Monzón; Ana Sastre; Jose Abelairas; Constantino Sábado; Nieves Martín-Begué; Joan Carles Ferreres; Ana Fernández-Teijeiro; Ricardo González-Campora; María José Rios-Moreno; Ángel Zaballos; Isabel Cuesta; Beatriz Martínez-Delgado; Manuel Posada; Javier Alonso
Journal:  J Hum Genet       Date:  2019-11-26       Impact factor: 3.172

2.  Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.

Authors:  B Speight; E Colvin; E D Epurescu; J Drummond; S Verhoef; M Pereira; D G Evans; M Tischkowitz
Journal:  Hered Cancer Clin Pract       Date:  2022-09-06       Impact factor: 2.164

  2 in total

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