Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection
BRCA-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk of developing other malignancies including cholangiocarcinoma (CCA). Somatic BRCA mutations have been reported in CCA, but they have yet to be utilized in a proband case to identify HBOC in fam...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-08-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fonc.2020.01292/full |
| _version_ | 1818960193807974400 |
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| author | Angelo Virgilio Paradiso Angelo Virgilio Paradiso Margherita Patruno Maria Digennaro Stefania Tommasi Brunella Pilato Antonella Argentiero Oronzo Brunetti Nicola Silvestris Nicola Silvestris |
| author_facet | Angelo Virgilio Paradiso Angelo Virgilio Paradiso Margherita Patruno Maria Digennaro Stefania Tommasi Brunella Pilato Antonella Argentiero Oronzo Brunetti Nicola Silvestris Nicola Silvestris |
| author_sort | Angelo Virgilio Paradiso |
| collection | DOAJ |
| description | BRCA-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk of developing other malignancies including cholangiocarcinoma (CCA). Somatic BRCA mutations have been reported in CCA, but they have yet to be utilized in a proband case to identify HBOC in families. Two healthy daughters of a deceased female patient who had had metachronous breast cancer and CCA received genetic counseling to assess their cancer risk. Somatic BRCA1/2 mutation analysis was performed by next-generation sequencing on the DNA extracted from a formalin-fixed, paraffin-embedded CCA biopsy specimen of their mother. A pathogenic variant was identified (c.6468_6469delTC in a BRCA2 gene mutation). Germline BRCA mutation analysis of the two daughters detected the same pathogenic variant in one of them. For the first time, a CCA somatic BRCA mutation has been used to identify a family with HBOC. |
| first_indexed | 2024-12-20T11:53:39Z |
| format | Article |
| id | doaj.art-13dd6537fc884920a7dd17e31fc8bd64 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-12-20T11:53:39Z |
| publishDate | 2020-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-13dd6537fc884920a7dd17e31fc8bd642022-12-21T19:41:42ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2020-08-011010.3389/fonc.2020.01292539092Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome DetectionAngelo Virgilio Paradiso0Angelo Virgilio Paradiso1Margherita Patruno2Maria Digennaro3Stefania Tommasi4Brunella Pilato5Antonella Argentiero6Oronzo Brunetti7Nicola Silvestris8Nicola Silvestris9Experimental Oncology—Center for the Study of Hereditary Cancers, IRCCS-Istituto Tumori “Giovanni Paolo II”, Bari, ItalyScientific Direction, IRCCS-Istituto Tumori “Giovanni Paolo II”, Bari, ItalyExperimental Oncology—Center for the Study of Hereditary Cancers, IRCCS-Istituto Tumori “Giovanni Paolo II”, Bari, ItalyExperimental Oncology—Center for the Study of Hereditary Cancers, IRCCS-Istituto Tumori “Giovanni Paolo II”, Bari, ItalyMolecular and Pharmacogenetics Diagnostic Laboratory, IRCCS-Istituto Tumori “Giovanni Paolo II”, Bari, ItalyMolecular and Pharmacogenetics Diagnostic Laboratory, IRCCS-Istituto Tumori “Giovanni Paolo II”, Bari, ItalyMedical Oncology Unit, IRCCS-Istituto Tumori “Giovanni Paolo II”, Bari, ItalyMedical Oncology Unit, IRCCS-Istituto Tumori “Giovanni Paolo II”, Bari, ItalyMedical Oncology Unit, IRCCS-Istituto Tumori “Giovanni Paolo II”, Bari, ItalyDepartment of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, Bari, ItalyBRCA-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk of developing other malignancies including cholangiocarcinoma (CCA). Somatic BRCA mutations have been reported in CCA, but they have yet to be utilized in a proband case to identify HBOC in families. Two healthy daughters of a deceased female patient who had had metachronous breast cancer and CCA received genetic counseling to assess their cancer risk. Somatic BRCA1/2 mutation analysis was performed by next-generation sequencing on the DNA extracted from a formalin-fixed, paraffin-embedded CCA biopsy specimen of their mother. A pathogenic variant was identified (c.6468_6469delTC in a BRCA2 gene mutation). Germline BRCA mutation analysis of the two daughters detected the same pathogenic variant in one of them. For the first time, a CCA somatic BRCA mutation has been used to identify a family with HBOC.https://www.frontiersin.org/article/10.3389/fonc.2020.01292/fullBRCA1BRCA2biliary tract cancershereditary BRCA cancersomatic mutations |
| spellingShingle | Angelo Virgilio Paradiso Angelo Virgilio Paradiso Margherita Patruno Maria Digennaro Stefania Tommasi Brunella Pilato Antonella Argentiero Oronzo Brunetti Nicola Silvestris Nicola Silvestris Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection Frontiers in Oncology BRCA1 BRCA2 biliary tract cancers hereditary BRCA cancer somatic mutations |
| title | Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection |
| title_full | Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection |
| title_fullStr | Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection |
| title_full_unstemmed | Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection |
| title_short | Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection |
| title_sort | somatic brca mutation in a cholangiocarcinoma patient for hboc syndrome detection |
| topic | BRCA1 BRCA2 biliary tract cancers hereditary BRCA cancer somatic mutations |
| url | https://www.frontiersin.org/article/10.3389/fonc.2020.01292/full |
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