The BRCA1 c.788G > T (NM_007294.4) variant in a high grade serous ovarian cancer (HGSOC) patient: foods for thought.
BRCA1/2 genes
C.788G > T
High grade serous ovarian cancer
Next generation sequencing
Tumor BRCA testing
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
22
12
2020
accepted:
18
02
2021
pubmed:
4
3
2021
medline:
20
5
2021
entrez:
3
3
2021
Statut:
ppublish
Résumé
In this report we described the case of a BRCA1/2 (BRCA) molecular testing performed on tumor sample in a High Grade Serous Ovarian Cancer (HGSOC) patient with two different Next Generation Tumor Sequencing (NGTS) pipelines. The two clinical reports leaded to apparently different BRCA status, providing important foods for thought. After NGTS, the gene sequencing information (i.e., reads) are aligned to the reference gene sequences obtained from public databases, in order to provide an uniform nomenclature for unambiguous variant designation. However, the criteria adopted for variant reporting in tissue test are not always univocal. Particularly, this is the case of rare and unclassified BRCA variants for which the molecular evaluation may be a relevant challenge. Here we described a BRCA1 unclassified variant that may be re-evaluated in the context of alternative BRCA1 transcripts due to its different biological effect. We underlined that an in-depth knowledge of BRCA testing is mandatory for its appropriate use.
Identifiants
pubmed: 33656647
doi: 10.1007/s11033-021-06243-x
pii: 10.1007/s11033-021-06243-x
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2985-2992Références
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