Cargando…

Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis

BACKGROUND: Synchronous cancers have occasionally been detected at initial diagnosis among patients with breast and ovarian cancer. However, simultaneous coexistence and diagnosis of breast and pancreas cancer has not previously been reported. CASE REPORT: Paternal transmission of a germline BRCA2 m...

Descripción completa

Detalles Bibliográficos
Autores principales: Castro, Michael, Vierkoetter, Koah, Prager, Douglas, Montgomery, Shasta, Sedgwick, Kristin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043351/
https://www.ncbi.nlm.nih.gov/pubmed/27721756
http://dx.doi.org/10.1159/000447348
_version_ 1782456739971465216
author Castro, Michael
Vierkoetter, Koah
Prager, Douglas
Montgomery, Shasta
Sedgwick, Kristin
author_facet Castro, Michael
Vierkoetter, Koah
Prager, Douglas
Montgomery, Shasta
Sedgwick, Kristin
author_sort Castro, Michael
collection PubMed
description BACKGROUND: Synchronous cancers have occasionally been detected at initial diagnosis among patients with breast and ovarian cancer. However, simultaneous coexistence and diagnosis of breast and pancreas cancer has not previously been reported. CASE REPORT: Paternal transmission of a germline BRCA2 mutation to a patient who was diagnosed at age 40 with locally advanced breast and pancreas cancer is presented. Somatic genomic analysis of both cancers with next-generation DNA sequencing confirmed the germline result and reported a variety of variants of unknown significance alterations, of which two were present in both the breast and pancreas cancers. DISCUSSION: The possibility that genomic alterations could have been responsible for modulating the phenotypic or clinical expression of this rare presentation is considered. The authors call attention to the practice of privatizing the clinicogenetic information gained from genetic testing and call for health policy that will facilitate sharing in order to advance the outcomes of patients diagnosed with hereditary cancers.
format Online
Article
Text
id pubmed-5043351
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher S. Karger AG
record_format MEDLINE/PubMed
spelling pubmed-50433512016-10-07 Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis Castro, Michael Vierkoetter, Koah Prager, Douglas Montgomery, Shasta Sedgwick, Kristin Case Rep Oncol Case Report BACKGROUND: Synchronous cancers have occasionally been detected at initial diagnosis among patients with breast and ovarian cancer. However, simultaneous coexistence and diagnosis of breast and pancreas cancer has not previously been reported. CASE REPORT: Paternal transmission of a germline BRCA2 mutation to a patient who was diagnosed at age 40 with locally advanced breast and pancreas cancer is presented. Somatic genomic analysis of both cancers with next-generation DNA sequencing confirmed the germline result and reported a variety of variants of unknown significance alterations, of which two were present in both the breast and pancreas cancers. DISCUSSION: The possibility that genomic alterations could have been responsible for modulating the phenotypic or clinical expression of this rare presentation is considered. The authors call attention to the practice of privatizing the clinicogenetic information gained from genetic testing and call for health policy that will facilitate sharing in order to advance the outcomes of patients diagnosed with hereditary cancers. S. Karger AG 2016-07-21 /pmc/articles/PMC5043351/ /pubmed/27721756 http://dx.doi.org/10.1159/000447348 Text en Copyright © 2016 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Castro, Michael
Vierkoetter, Koah
Prager, Douglas
Montgomery, Shasta
Sedgwick, Kristin
Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis
title Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis
title_full Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis
title_fullStr Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis
title_full_unstemmed Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis
title_short Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis
title_sort synchronous onset of breast and pancreatic cancers: results of germline and somatic genetic analysis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043351/
https://www.ncbi.nlm.nih.gov/pubmed/27721756
http://dx.doi.org/10.1159/000447348
work_keys_str_mv AT castromichael synchronousonsetofbreastandpancreaticcancersresultsofgermlineandsomaticgeneticanalysis
AT vierkoetterkoah synchronousonsetofbreastandpancreaticcancersresultsofgermlineandsomaticgeneticanalysis
AT pragerdouglas synchronousonsetofbreastandpancreaticcancersresultsofgermlineandsomaticgeneticanalysis
AT montgomeryshasta synchronousonsetofbreastandpancreaticcancersresultsofgermlineandsomaticgeneticanalysis
AT sedgwickkristin synchronousonsetofbreastandpancreaticcancersresultsofgermlineandsomaticgeneticanalysis