Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia

Levanat, Sonja; Musani, Vesna; Cvok, Mirela Levačić; Sušac, Ilona; Sabol, Maja; Ozretić, Petar; Car, Diana; Eljuga, Damir; Eljuga, Ljerka

doi:10.1016/j.gene.2012.02.010

Cited by 10 publications

(7 citation statements)

References 47 publications

(55 reference statements)

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“…Interestingly, one was male BC (Table V). Similar mutation c.6641dupC (p.Lys2215Tyrfs * 10) was detected in nearby Croatia in two unrelated families (50). …”

Section: Discussionsupporting

confidence: 63%

“…Mutation c.8175G>A (p.Trp2725 * ) was first reported just recently by Levanat et al (50). Mutation c.8175G>A was identified in two unaffected siblings (with a family history of two BC cases) from Croatia (50).…”

Section: Discussionmentioning

confidence: 94%

“…Mutation c.8175G>A was identified in two unaffected siblings (with a family history of two BC cases) from Croatia (50). Mutation c.8175G>A lies in the frequently mutated exon 18 of BRCA2 leading to the truncation of the BRCA2 oligonucleotide binding domain (OB1) in the DNA-binding domain (DBD) (32).…”

Section: Discussionmentioning

confidence: 99%

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Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families

Novaković

Milatović

Cerkovnik

et al. 2012

International Journal of Oncology

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The estimated proportion of hereditary breast and ovarian cancers among all breast and ovarian cancer cases is 5–10%. According to the literature, inherited mutations in the BRCA1 and BRCA2 tumour-suppressor genes, account for the majority of hereditary breast and ovarian cancer cases. The aim of this report is to present novel mutations that have not yet been described in the literature and pathogenic BRCA1 and BRCA2 mutations which have been detected in HBOC families for the first time in the last three years. In the period between January 2009 and December 2011, 559 individuals from 379 families affected with breast and/or ovarian cancer were screened for mutations in the BRCA1 and BRCA2 genes. Three novel mutations were detected: one in BRCA1 - c.1193C>A (p.Ser398*) and two in BRCA2 - c.5101C>T (p.Gln1701*) and c.5433_5436delGGAA (p.Glu1811Aspfs*3). These novel mutations are located in the exons 11 of BRCA1 or BRCA2 and encode truncated proteins. Two of them are nonsense while one is a frameshift mutation. Also, 11 previously known pathogenic mutations were detected for the first time in the HBOC families studied here (three in BRCA1 and eight in BRCA2). All, except one cause premature formation of stop codons leading to truncation of the respective BRCA1 or BRCA2 proteins.

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“…Interestingly, one was male BC (Table V). Similar mutation c.6641dupC (p.Lys2215Tyrfs * 10) was detected in nearby Croatia in two unrelated families (50). …”

Section: Discussionsupporting

confidence: 63%

Section: Discussionmentioning

confidence: 94%

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Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families

Novaković

Milatović

Cerkovnik

et al. 2012

International Journal of Oncology

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“…23 In addition, we detected another three frameshift BRCA2 mutations (Table 3). One of them is novel mutation that has not been reported previously in Breast Cancer Information Core or Leiden Open Variation databases: c.7283delT BRCA2 exon 14.…”

Section: Discussionmentioning

confidence: 88%

Serbian high-risk families: extensive results on BRCA mutation spectra and frequency

et al. 2013

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Mutations in BRCA genes elevate risk for breast and ovarian cancer. These mutations are population specific. As there are no data on BRCA mutation screening on larger number of probands in Serbia to date, aim of this study was to determine types and frequencies of BRCA mutations in individuals from high-risk families from Serbia, as well as to determine which BRCA mutations may be considered as founder for Serbian population. We analyzed 94 probands and detected 9 frameshift mutations in 12 individuals, 1 benign BRCA2 nonsense mutation and numerous missense and synonymous mutations in both genes. Frequency of frameshift mutations is 12.77%. In addition to two novel mutations detected in our population we reported previously, we detected another novel mutation-c.7283delT in BRCA2 exon 14. None of the detected deleterious mutations may be considered as founder mutations for Serbian population, as each of them was found in no more than two high-risk families. This mutation diversity is most probably due to high migration rate in history of this part of Europe. Interpretation of genetic testing results with missense mutations of unknown clinical importance is very challenging and should be approached with caution, using all available data sources for results' interpretation.

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“…The mutation analysis was conducted with HRM (high-resolution melting) for small mutations and QMPSF (quantitative multiplex polymerase chain reaction of short fluorescent) for larger rearrangements. [ 2 ] Deletion of exons 4 to 6 (traditionally named exons 5–7) in BRCA1 was found with QMPSF and confirmed with MLPA (multiplex ligation-dependent probe amplification; name of the kit used for the experiment ‘SALSA MLPA P002 BRCA1 probemix; MRC-Holland’).…”

Section: Case Presentationmentioning

confidence: 98%

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

Musani

Sušac²,

Ozretić³

et al. 2017

Medicine

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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.

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Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia

Cited by 10 publications

References 47 publications

Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families

Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families

Serbian high-risk families: extensive results on BRCA mutation spectra and frequency

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

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