Complete BRCA mutation screening in breast and ovarian cancer predisposition families from a North-Eastern Romanian population

Negura, Lucian; Uhrhammer, Nancy; Negura, Anca; Artenie, Vlad; Carasevici, E; Bignon, Yves‐Jean

doi:10.1007/s10689-010-9361-6

Cited by 13 publications

(12 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Being a founder mutation in Greece [ 28 ], c.5263_5264insC has been detected in other Balkan countries such as Romania, Turkey, Serbia, Croatia, and Macedonia but without a founder effect [ 29 – 33 ]. Apparently Bulgaria is the second Balkan country in which the most prevalent Slavic mutation c.5263_5264insC has a founder effect accounting for a very high proportion, about 76 % (22/29) from all detected BRCA1 mutations (Table 3 ), with high intermediate frequency (11 %) compared to the other Central and Eastern European countries [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients

et al. 2015

View full text Add to dashboard Cite

BackgroundAbout 3885 women are diagnosed with breast cancer and 1285 die from the disease each year in Bulgaria. However no genetic testing to identify the mutations in high-risk families has been provided so far.MethodsWe evaluated 200 Bulgarian women with primary invasive breast cancer and with personal/ family history of breast cancer for the presence of unequivocally damaging germline mutations in BRCA1/2 using Sanger sequencing.ResultsOf the 200 patients, 39 (19.5 %) carried a disease predisposing mutation, including 28 (14 %) with a BRCA1 mutation and 11 (5.5 %) with a BRCA2 mutation. At BRCA1, 6 different mutations were identified, including 2 frameshifts, 1 nonsense and 1 missense that had been previously reported (c.5030_5033delCTAA, c.5263_5264insC, c.4603G > T, c.181 T > G), and 2 frameshifts, which were novel to this study (c.464delA, c.5397_5403delCCCTTGG). At BRCA2, 7 different frameshift mutations were identified, including 5 previously reported (5851_5854delAGTT, c.5946delT, c.5718_5719delCT, c.7910_7914delCCTTT,c.9098_9099insA) and 2 novel (c.8532_8533delAA, c.9682delA).A BRCA1 mutation was found in 18.4 % of women diagnosed with breast cancer at/or under the age of 40 compared to 11.2 % of women diagnosed at a later age; a BRCA2 mutation was found in 4 % of women diagnosed at/or under the age of 40 compared to 6.5 % of women diagnosed at a later age. A mutation was present in 26.8 % patients with a positive family history and in 14.4 % of women with a negative family history.The most prevalent mutation observed in 22 patients (11 %) was BRCA1 c.5263_5264insC, a known Slavic mutation with founder effect in Eastern European and AJ communities. Other recurrent mutations were BRCA2 c.9098-9099insA (2 %), BRCA1 c.181T > G (1 %) and BRCA2 c.5851_5854delAGTT (1 %). Notably, BRCA1 c.5263_5264insC represented 56 % of all mutations identified in this series. Of the 22 patients with BRCA1 c.5263_5264insC, 9 were diagnosed with early onset breast cancer, 11 with TNBCs, 4 with bilateral breast cancer, and 6 with both breast and ovarian cancer.ConclusionsThis is the first comprehensive study of the BRCA1/2 mutation spectrum in Bulgaria and will assist the establishment of efficient protocols for genetic testing and individualized risk assessment for Bulgarian breast/ovarian cancer patients and healthy individuals at a high-risk.Electronic supplementary materialThe online version of this article (doi:10.1186/s12885-015-1516-2) contains supplementary material, which is available to authorized users.

show abstract

Section: Discussionmentioning

confidence: 99%

Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients

et al. 2015

View full text Add to dashboard Cite

show abstract

“…Nevertheless, these mutations were also detected in other nearby countries (Italy (Turchetti et al, 2000), Austria (Wagner et al, 1998), Germany (Ramus andGayther, 2009), Hungary (Van der Looij et al, 2000), Romania (Negura et al, 2010) and Greece (Konstantopoulou et al, 2008)). c.5266dupC mutation is the most prevalent BRCA1 mutation in Europe.…”

Section: Exonmentioning

confidence: 94%

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

Levanat

Musani

Cvok³

et al. 2012

Gene

View full text Add to dashboard Cite

“…The BRCA1 c.5266dupC and c.181T>G mutations were reported to be present in the north-eastern Romanian population in the only two studies conducted so far in our country [18,19].…”

Section: Brca1mentioning

confidence: 99%

Associations of pathogenic mutations responsible for breast cancer risk with histology and immunohistochemistry in Romanian population

Goidescu

Eniu

Caracostea

et al. 2018

Revista Romana De Medicina De Laborator

View full text Add to dashboard Cite

show abstract

Complete BRCA mutation screening in breast and ovarian cancer predisposition families from a North-Eastern Romanian population

Cited by 13 publications

References 24 publications

Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients

Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients

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

Associations of pathogenic mutations responsible for breast cancer risk with histology and immunohistochemistry in Romanian population

Contact Info

Product

Resources

About