Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients

Çeçener, Gülşah; Takanlou, Leila Sabour; Takanlou, Maryam Sabour; Egelí, Ünal; Eskiler, Gamze Güney; Aksoy, Seçil Ak; Ünal, Ufuk; Tezcan, Havva; Eryılmaz, Işıl Ezgi; Gökgöz, Mustafa Şehsuvar; Tunca, Berrin; Çubukçu, Erdem; Evrensel, Türkkan; Çetintaş, Sibel Kahraman; Taşdelen, İsmet

doi:10.1016/j.cancergen.2019.10.004

Cited by 13 publications

(13 citation statements)

References 65 publications

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“…Surprisingly, this mutation has neither been previously identified in Romania, nor in the present study. BRCA2 c.9097dupA is the most common BRCA2 mutation in the Turkish population, being very frequent in eastern populations (38). We did not find it in our population.…”

Section: Discussioncontrasting

confidence: 73%

High frequency of BRCA recurrent mutations in a consecutive series of unselected ovarian cancer patients

Negura

Braescu

Morariu

et al. 2020

Revista Romana De Medicina De Laborator

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Hereditary predisposition to breast and ovarian cancer (HBOC) is diagnosed by molecular analysis of deleterious mutations in BRCA genes, allowing oncogenetic follow-up of patients and of their families. BRCA testing addresses only to HBOC families, using restrictive inclusion criteria based on familial history of cancer and age at diagnosis. Sporadic ovarian cancer has high incidence and mortality in Romania, with low median age of diagnosis and possibly a higher magnitude of hereditary contribution comparing to othe populations. However, sporadic ovarian cancers do not qualify for BRCA testing according to inclusion criteria, and a complete BRCA screening of all cancers is neither feasible nor recommended. Despite the large diversity of BRCA mutations worldwide, some recurrent mutations have higher frequencies in diverse populations. Precisely screening for recurrent mutations in a target population allows to rapidly identifying mutation carriers without sequencing the entire BRCA genes. In Romanian population and neighboring countries, several recurrent mutations have already been described. In a consecutive series of 50 sporadic ovarian cancer patients, not qualifying for BRCA complete testing, we screened for 9 most common BRCA mutations, by multiplex-PCR, RFLP and targeted Sanger sequencing. Our results revealed 6 different BRCA mutations in 8 unrelated patients, with a frequency of 16%, much higher than expected. We further recommend screening for the identified mutations in larger series of cancer patients. The results are highly beneficial to cancer patients, healthy relatives, and overall, considering prevention in cancer a priority, to public health system and future of oncogenetics in Romania

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Section: Discussioncontrasting

confidence: 73%

High frequency of BRCA recurrent mutations in a consecutive series of unselected ovarian cancer patients

Negura

Braescu

Morariu

et al. 2020

Revista Romana De Medicina De Laborator

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“…The CHEK2 c.592+3A>T splice donor site variant, which causes aberrant splicing and frameshift, 31 was very frequent, and a potential founder pathogenic variant in the Turkish population. Ashkenazi founder variant BRCA1 c.5266dupC, which was previously reported as the most frequent pathogenic variant Turkish BC/OC patients, 12,13 was not identified among the BC cases in our study. The only pathogenic variant detected among 12 male BC patients was in BRCA2 , which has been repeatedly found as the most frequently affected gene in male BC 32 .…”

Section: Discussioncontrasting

confidence: 61%

“…Despite this, the study population was likely not representative of the whole Turkish population because of neighborhood effect. Families of most participants originated from northern and eastern parts of Turkey, therefore, studies in other regions of Turkey might detect different recurring pathogenic variants (see References 12 and 13). Accordingly, the prevalence of BRCA1 exons 17‐18 deletion among all Turkish BC patients must be smaller than reported here.…”

Section: Discussionmentioning

confidence: 99%

“…10 The pathogenic variant spectrum in BC and CRC patients in Turkish population has not been fully explored, as previous studies were limited in sample size and/or confined to one or few genes. [11][12][13] Here, we aimed to determine the pathogenic variant frequency in 25 cancer susceptibility genes in a large cohort of Turkish BC and CRC patients using comprehensive cancer panels and multiplex ligation-dependent probe amplification (MLPA) tests. We examined correlations between pathogenic variants and clinical characteristics and compared variant frequencies between high-risk or all cancer patients and elderly controls.…”

Section: Introductionmentioning

confidence: 99%

“…Prevalence of pathogenic variants and risk estimates might vary across populations 10 . The pathogenic variant spectrum in BC and CRC patients in Turkish population has not been fully explored, as previous studies were limited in sample size and/or confined to one or few genes 11‐13 . Here, we aimed to determine the pathogenic variant frequency in 25 cancer susceptibility genes in a large cohort of Turkish BC and CRC patients using comprehensive cancer panels and multiplex ligation‐dependent probe amplification (MLPA) tests.…”

Section: Introductionmentioning

confidence: 99%

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Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls

Akçay

Çelik

Ağaoğlu

et al. 2020

Intl Journal of Cancer

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Inherited pathogenic variants account for 5% to 10% of all breast cancer (BC) and colorectal cancer (CRC) cases. Here, we sought to profile the pathogenic variants in 25 cancer susceptibility genes in Turkish population. Germline pathogenic variants were screened in 732 BC patients, 189 CRC patients and 490 cancer-free elderly controls, using next-generation sequencing-based multigene panel testing and multiplex ligation-dependent probe amplification testing. Pathogenic variants were detected in 17.2% of high-risk BC patients and 26.4% of high-risk CRC patients. More than 95% of these variants were clinically actionable. BRCA1/2 and mismatch repair genes (MLH1, MSH2 and MSH6) accounted for two-thirds of all pathogenic variants detected in high-risk BC and CRC patients, respectively. Pathogenic variants in PALB2, CHEK2, ATM and TP53 were also prevalent in high-risk BC patients (4.5%). BRCA1 exons 17-18 deletion and CHEK2 c.592+3A>T were the most common variants predisposing to BC, and they are likely to be founder variants. Three frequent MUTYH pathogenic variants (c.884C>T, c.1437_1439delGGA and c.1187G>A) were responsible for all MUTYH biallelic cases (4.4% of high-risk CRC patients). The total pathogenic variant frequency was very low in controls (2.4%

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Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey

Bişgin¹,

Sağ²,

Doğan³

et al. 2022

The Breast

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Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients

Cited by 13 publications

References 65 publications

High frequency of BRCA recurrent mutations in a consecutive series of unselected ovarian cancer patients

High frequency of BRCA recurrent mutations in a consecutive series of unselected ovarian cancer patients

Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey

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