Literature DB >> 15868448

A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes.

Antonino Musolino1, Nadia Naldi, Maria Michiara, Maria A Bella, Paola Zanelli, Beatrice Bortesi, Marzia Capelletti, Mario Savi, Tauro M Neri, Andrea Ardizzoni.   

Abstract

We report the first case in Italy of a non-Ashkenazi double heterozygote for BRCA1 and BRCA2 genes. This finding is predictably rare, with a maximum frequency of 1/250,000. The proband and her mother were diagnosed with early-onset breast cancer. No other relatives with breast and/or ovarian cancer were observed. The implications of this case in regard to genetic testing and counseling are substantial.

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Year:  2005        PMID： 15868448     DOI： 10.1007/s10549-004-7704-4

Source DB:  PubMed          Journal:  Breast Cancer Res Treat        ISSN： 0167-6806            Impact factor:   4.872


  7 in total

1.  The ophthalmic experience: unanticipated primary findings in the era of next generation sequencing.

Authors:  Jillian T Huang; John R Heckenlively; K Thiran Jayasundera; Kari E Branham
Journal:  J Genet Couns       Date:  2014-01-08       Impact factor: 2.537

2.  Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report.

Authors:  Yanyan Wang; Da Jiang; Qiang Zhao; Hui Huang; Xue Zhang; Yanzhi Cui; Jiayin Liu; Jing Wu; Keke Lin; Weixi Chen; Jiale Xiang; Hui Jin; Zhiyu Peng; Santasree Banerjee
Journal:  Oncol Lett       Date:  2018-07-12       Impact factor: 2.967

3.  Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.

Authors:  Yoon Ju Bang; Won Kyung Kwon; Seok Jin Nam; Seok Won Kim; Byung-Joo Chae; Se Kyung Lee; Jai Min Ryu; Jong-Won Kim; Jonghan Yu; Jeong Eon Lee
Journal:  Cancer Res Treat       Date:  2021-10-13       Impact factor: 5.036

Review 4.  The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.

Authors:  Amir Mehrgou; Mansoureh Akouchekian
Journal:  Med J Islam Repub Iran       Date:  2016-05-15

5.  Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.

Authors:  Eugenia Fraile-Bethencourt; Alberto Valenzuela-Palomo; Beatriz Díez-Gómez; Alberto Acedo; Eladio A Velasco
Journal:  Front Genet       Date:  2018-05-24       Impact factor: 4.599

6.  Five Italian Families with Two Mutations in BRCA Genes.

Authors:  Maria Teresa Vietri; Gemma Caliendo; Giovanna D'Elia; Marianna Resse; Amelia Casamassimi; Pellegrino Biagio Minucci; Concetta Dello Ioio; Michele Cioffi; Anna Maria Molinari
Journal:  Genes (Basel)       Date:  2020-12-03       Impact factor: 4.096

7.  Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.

Authors:  Raffaele Palmirotta; Domenica Lovero; Luigia Stefania Stucci; Erica Silvestris; Davide Quaresmini; Angela Cardascia; Franco Silvestris
Journal:  Int J Mol Sci       Date:  2018-01-18       Impact factor: 5.923
  7 in total

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