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The first case report of a large deletion of the BRCA1 gene in Croatia: A case report.

Abstract：

RATIONALE:Breast cancer is one of the most common cancers in women, and it is the leading cause of cancer related deaths in Croatia. BRCA1 and BRCA2 gene mutations are the most common cause of hereditary breast cancer. PATIENT CONCERNS:In this report we describe a Croatian patient with no apparent family history of cancer, who developed breast cancer first at 29, and again at 33. DIAGNOSIS:Due to the early development of first breast cancer and triple negative status of the second, the attending physician suspected a hereditary aspect. INTERVENTIONS:Patient was sent to BRCA1 genetic testing. Subsequently, her mother and sister were sent to check for the mutation found in the patient. OUTCOMES:BRCA1 exons 4-6 deletion was determined and sequencing confirmed the deletion as NG_005905.2:g.107648_117905del10257. Mother and sister were not affected, but since there were no available family members on the fathers' side, it was not possible to determine if this was a case of de novo mutation. Until now, only in three reports with the similar mutation the exact mutation borders were determined. The mutation in this case was not the same as previously reported and was more than twice in size. LESSONS:All large deletions should be described at the nucleotide level, so that in cases with missing family data it would be possible to deduce if the mutation is already known. If the mutation is already known, it is probably not a de novo event, since it is unlikely that the breakpoints would be exactly the same more than once.

journal_name

Medicine (Baltimore)

journal_title

Medicine

authors

Musani V,Sušac I,Ozretić P,Eljuga D,Levanat S

doi

10.1097/MD.0000000000008667

subject

Has Abstract

pub_date

2017-12-01 00:00:00

pages

e8667

issue

48

eissn

0025-7974

issn

1536-5964

pii

00005792-201712010-00020

journal_volume

96

pub_type

杂志文章

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