Age at Onset of Bilateral Breast Cancer, the Presence of Hereditary &lt;i&gt;BRCA1, BRCA2, CHEK2&lt;/i&gt; Gene Mutations and Positive Family History of Cancer

Skasko, E.; Kluska, Anna; Niwińska, Anna; E, Kwiatkowska; Bałabas, Aneta; Piątkowska, Magdalena; Dąbrowska, Michalina; Nowakowska, Dorota; Pieńkowski, Tadeusz

doi:10.1159/000200930

Cited by 6 publications

(5 citation statements)

References 31 publications

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“…Overall, our study identified 19 ATM mutation carriers with 24 breast tumors and 17 CHEK2 mutation carriers with 22 breast tumors. Median age at first BC onset was 46.9 years for ATM and 46.1 years for CHEK2 , in keeping with the literature [ 44 ]. Moreover, a high rate of bilateral tumors was observed in ATM (26.3%) and CHEK2 mutation carriers (41.2%).…”

Section: Discussionsupporting

confidence: 86%

Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers

Toss

Tenedini

Piombino

et al. 2021

Genes

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The most common breast cancer (BC) susceptibility genes beyond BRCA1/2 are ATM and CHEK2. For the purpose of exploring the clinicopathologic characteristics of BC developed by ATM or CHEK2 mutation carriers, we reviewed the archive of our Family Cancer Clinic. Since 2018, 1185 multi-gene panel tests have been performed. Nineteen ATM and 17 CHEK2 mutation carriers affected by 46 different BCs were identified. A high rate of bilateral tumors was observed in ATM (26.3%) and CHEK2 mutation carriers (41.2%). While 64.3% of CHEK2 tumors were luminal A-like, 56.2% of ATM tumors were luminal B-like/HER2-negative. Moreover, 21.4% of CHEK2-related invasive tumors showed a lobular histotype. About a quarter of all ATM-related BCs and a third of CHEK2 BCs were in situ carcinomas and more than half of ATM and CHEK2-related BCs were diagnosed at stage I-II. Finally, 63.2% of ATM mutation carriers and 64.7% of CHEK2 mutation carriers presented a positive BC family history. The biological and clinical characteristics of ATM and CHEK2-related tumors may help improve diagnosis, prognostication and targeted therapeutic approaches. Contralateral mastectomy should be considered and discussed with ATM and CHEK2 mutation carriers at the first diagnosis of BC.

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Section: Discussionsupporting

confidence: 86%

Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers

Toss

Tenedini

Piombino

et al. 2021

Genes

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“…We selected 12 mutations for this study from a series of 30 recurrent (seen in two or more cases) mutations of BRCA1 and BRCA2 reported in the literature in Polish women with breast or ovarian cancer to date . Seven BRCA1 mutations were selected (C61G, 185delAG, 3819del5, 3875del4, 4153delA, 5370C>T, 5382insC); each of these was previously reported in 11 or more unrelated Polish women.…”

Section: Methodsmentioning

confidence: 99%

“…Since the original study, over 50 other mutations in BRCA1 or BRCA2 have been detected in one or more breast or ovarian cancer patients from Poland, 30 of these mutations have been reported two or more times (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27). It is of interest to establish if, among these additional mutations, any are sufficiently common to be introduced into an extended screening panel and thereby improve the sensitivity of our screening assay.…”

mentioning

confidence: 99%

Recurrent mutations of BRCA1 and BRCA2 in Poland: an update

Szwiec¹,

Jakubowska

Górski

et al. 2014

Clinical Genetics

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Three founder alleles of BRCA1 (C61G, 4153delA, 5382insC) were reported in Poland in 2000, and these three mutations have comprised the standard testing panel used throughout the country. However, since 2000, other recurrent mutations of BRCA1 and BRCA2 have been reported. To establish if the inclusion of one or more of these mutations will increase the sensitivity of the standard test panel, we studied 1164 Polish women with unselected breast cancer diagnosed at age of 50 or below. All women were genotyped for 12 recurrent mutations of BRCA1 and BRCA2. We identified a mutation in 83 of 1164 patients (7.1%) including 61 women with one of the original three mutations (C61G, 4153delA, 5382insC) and 22 women with a different mutation (1.9%). Three new mutations (3819del5, 185delAG and 5370C>T) were seen in multiple families. By including these three mutations in the extended panel, the mutant frequency increased from 5.2 to 6.7%. Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of six founder mutations of BRCA1 (C61G, 4153delA, 5382insC, 3819del5, 185delAG and 5370C>T).

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“…Genomic DNA from peripheral blood leukocytes was obtained by phenol–chloroform extraction and analyzed by polymerase chain reaction and restriction enzyme digestion (PCR–RFLP) assays for RAD51 / G135C (rs1801320), ATM / P1054R (also known as 3161C > G, rs1800057), and CHEK2 / T470C (rs17879961) polymorphisms according to previous publications (Skasko et al 2009 ; Green and Sambrook 2012 ; Schumacher et al 2018 ). The PCR reactions were carried out in the VeritiVR Thermal Cycler (Applied Biosystems) and were done using 50–200 ng of genomic DNA, 0.4 µM of each primer, 1 × PCR buffer, 250 µM of dNTPs, 1.5 mM of MgCl 2 , and 1–2.5 units of Taq polymerase in a 50 µL reaction volume.…”

Section: Methodsmentioning

confidence: 99%

“…The aims of this study were to assess the frequency of the RAD51 / G135C (rs1801320), ATM / P1054R (rs1800057) and CHEK2 / T470C (rs17879961) polymorphisms and their putative association with the CAs, along with the evaluation of the health of 114 GSWs in Rio de Janeiro. The polymorphisms RAD51/G135C , ATM/P1054R , and CHEK2 / T470C were selected because they were associated with many cancers, such as prostate, breast, head and neck cancer, and leukemias (Skasko et al 2009 ; Schumacher et al 2018 ; Zeng et al 2018 ).…”

Section: Introductionmentioning

confidence: 99%

The association of three DNA repair genes polymorphisms on the frequency of chromosomal alterations detected by fluorescence in situ hybridization

Santiago

Silvestre

Otero

et al. 2021

Int Arch Occup Environ Health

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Purpose Gas station workers (GSWs) are exposed to carcinogenic agents. The aim was to study the association of high somatic chromosome alterations (CAs) rates in the blood of GSWs and the polymorphisms of three genes playing a role in DNA double-strand break repair. Methods This is a cross-sectional study with 114 GSWs and 115 age-matched controls. Cytogenetic analyses, blood exams, medical interviews and genotypes for RAD51/G135C (rs1801320), ATM/P1054R (rs1800057) and CHEK2/T470C (rs17879961) genes were performed. Results The CA rate in GSWs was 9.8 CAs/1000 metaphases, and 19.1% of the workers had > 10 CAs per 1000 metaphases (group two). GSWs had decreased levels of monocytes (P = 0.024) in their blood exams. The number of variant alleles of the RAD51/G135C polymorphism was higher in GSWs (P = 0.011) compared to the controls, and were associated with enhanced number of CAs per worker (P = 0.008). No allele variant was found for CHEK2/T470C in this study. Conclusion The RAD51/G135C polymorphism appears to be related to genome instability in gas station workers. Increasing the knowledge of DNA repair gene variations involved in maintaining genomic stability in GSWs may be crucial for future cancer prevention.

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Age at Onset of Bilateral Breast Cancer, the Presence of Hereditary <i>BRCA1, BRCA2, CHEK2</i> Gene Mutations and Positive Family History of Cancer

Cited by 6 publications

References 31 publications

Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers

Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers

Recurrent mutations of BRCA1 and BRCA2 in Poland: an update

The association of three DNA repair genes polymorphisms on the frequency of chromosomal alterations detected by fluorescence in situ hybridization

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