BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia

Tihomirova, Laima; Vaivade, Iveta; Fokina, Oksana; Pečulis, Raitis; Mandrika, Ilona; Siņicka, Olga; Stengrévics, Aivars; Крилова, А.С.; Keire, Guntars; Petrevics, Janis; Eglītis, Jānis; Timofejevs, M.; Leja, Mārcis

doi:10.1016/j.advms.2013.09.002

Cited by 5 publications

(5 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The loss of function in BRCA1 protein is a common mechanism for breast and ovarian cancer. The mutation has been observed in many individuals affected by breast and/or ovarian cancer [57][58][59][60][61][62][63]. The ENIGMA panel and 12 other submitters classified this mutation as pathogenic in 2014, and the following ACMG criteria were applied: PVS1, PP5, and PM2.…”

Section: Discussionmentioning

confidence: 99%

The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients

Grigore,

Radoi,

Serban

et al. 2024

CIMB

View full text Add to dashboard Cite

The objective of this study was to identify and classify the spectrum of mutations found in the BRCA1 and BRCA2 genes associated with breast and ovarian cancer in female patients in Romania. Germline BRCA1 and BRCA2 mutations were investigated in a cohort of 616 female patients using NGS and/or MLPA methods followed by software-based data analysis and classification according to international guidelines. Out of the 616 female patients included in this study, we found that 482 patients (78.2%) did not have any mutation present in the two genes investigated; 69 patients (11.2%) had a BRCA1 mutation, 34 (5.5%) had a BRCA2 mutation, and 31 (5%) presented different type of mutations with uncertain clinical significance, moderate risk or a large mutation in the BRCA1 gene. Our investigation indicates the most common mutations in the BRCA1 and BRCA2 genes, associated with breast and ovarian cancer in the Romanian population. Our results also bring more data in support of the frequency of the c.5266 mutation in the BRCA1 gene, acknowledged in the literature as a founder mutation in Eastern Europe. We consider that the results of our study will provide necessary data regarding BRCA1 and BRCA2 mutations that would help to create a genetic database for the Romanian population.

show abstract

Section: Discussionmentioning

confidence: 99%

The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients

Grigore,

Radoi,

Serban

et al. 2024

CIMB

View full text Add to dashboard Cite

show abstract

“…In seven out of sixteen (44%) primary breast and ovarian cancer patients matching the criteria for BRCA1/2 testing pathogenic non-founder BRCA1/2 mutations were identified. All 7 pathogenic mutations, including 2 large deletions, are novel in populations of Latvia [ 5 , 8 ]. These results may suggest that the present practice of testing only the 3 most frequent BRCA1 pathogenic founder mutations is insufficient and fails to detect a considerable number of pathogenic mutations in BRCA1/2 .…”

Section: Discussionmentioning

confidence: 99%

“…BRCA1 and BRCA2 pathogenic founder mutation analysis is a relatively straightforward and cost-effective screening strategy to identify mutation carriers [ 4 ]. In Latvia, all consecutive breast and ovarian cancer cases are eligible for BRCA1 pathogenic founder mutations (c.181 T > G, c.4035delA, c.5266dupC) screening [ 5 ], and the costs of the test are covered by the public health care system. However, according to recent studies, non-founder BRCA1 and BRCA2 pathogenic mutations account for up to 21.6% of all BRCA1 and BRCA2 pathogenic mutations in the Aschkenazi Jewish population [ 6 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

“…In a study published by Berzina et al, pathogenic non-founder mutations in BRCA1 and BRCA2 were identified in 4 out of 30 high-risk breast/ovarian cancer families from the Latvian population [ 8 ]. In another study published by Tihomirova et al, non-founder pathogenic mutations in BRCA1 and BRCA2 were detected in 9 out of 160 patients with breast and ovarian cancer [ 5 ]. These findings suggest that the proportion of pathogenic BRCA1/2 non-founder mutations is small and that family cancer history alone is of limited value to find subgroups of individuals, where expensive complete BRCA1/2 testing is indicated.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population

Maksimenko

Irmejs

Trofimovics

et al. 2018

Hered Cancer Clin Pract

View full text Add to dashboard Cite

BackgroundPathogenic BRCA1 founder mutations (c.4035delA, c.5266dupC) contribute to 3.77% of all consecutive primary breast cancers and 9.9% of all consecutive primary ovarian cancers. Identifying germline pathogenic gene variants in patients with primary breast and ovarian cancer could significantly impact the medical management of patients. The aim of the study was to evaluate the rate of pathogenic mutations in the 26 breast and ovarian cancer susceptibility genes in patients who meet the criteria for BRCA1/2 testing and to compare the accuracy of different selection criteria for second-line testing in a founder population.MethodsFifteen female probands and 1 male proband that met National Comprehensive Cancer Network (NCCN) criteria for BRCA1/2 testing were included in the study and underwent 26-gene panel testing. Fourteen probands had breast cancer, one proband had ovarian cancer, and one proband had both breast and ovarian cancer. In a 26-gene panel, the following breast and/or ovarian cancer susceptibility genes were included: ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, and XRCC2. All patients previously tested negative for BRCA1 founder mutations.ResultsIn 44% (7 out of 16) of tested probands, pathogenic mutations were identified. Six probands carried pathogenic mutations in BRCA1, and one proband carried pathogenic mutations in BRCA2. In patients, a variant of uncertain significance was found in BRCA2, RAD50, MRE11A and CDH1. The Manchester scoring system showed a high accuracy (87.5%), high sensitivity (85.7%) and high specificity (88.9%) for the prediction of pathogenic non-founder BRCA1/2 mutations.ConclusionA relatively high incidence of pathogenic non-founder BRCA1/2 mutations was observed in a founder population. The Manchester scoring system predicted the probability of non-founder pathogenic mutations with high accuracy.

show abstract

“…En cuanto a los primeros, se han descrito mutaciones en genes de alta penetrancia como BRCA1, BRCA2, TP53; y genes de baja penetrancia como RAD51, XRCC3 y ATM. Las funciones de estos genes están relacionadas con la reparación del ácido desoxirribonucleico (ADN) y control del ciclo celular (5)(6)(7)(8)(9)(10)(11).…”

Section: Introductionunclassified

Interacciones génicas implicadas en la aparición anticipada de cáncer de mama invasor en la población “paisa” - Colombia

Martínez-Garro

Valle

Duque-Giraldo

et al. 2019

CES Med

View full text Add to dashboard Cite

El cáncer de mama invasor es una neoplasia de origen multifactorial en el cual están involucrados tanto componentes genéticos, como no genéticos, los cuales pueden modular su aparición temprana. El objetivo de este estudio es evaluar la participación de los componentes genéticos. Metodología: se analizaron 165 mujeres con cáncer de mama pertenecientes a la población “paisa” y estratificadas por edad de diagnóstico. Se evaluaron variables no genéticas y, de forma indirecta, variables genéticas usando marcadores tipo short tándem repeats (STR). Resultados: no se detectaron diferencias en cuanto a los factores de riesgo no genético entre pacientes mayores y menores de 50 años, ni al evaluar los genes de forma individual. Al comparar combinaciones genéticas se detectaron dos interacciones génicas en mujeres menores de 50 años: BRCA2-BRCA1 (p= 0,04) y BRCA2-ATM (p= 0,008). Conclusión: estos resultados sugieren la participación de la interacción de dichos genes en la aparición de cáncer de mama antes de los 50 años. Dado que el estudio se hizo con marcadores indirectos es necesario realizar estudios posteriores para identificar las mutaciones funcionales que soporten estos hallazgos.

show abstract

BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia

Cited by 5 publications

References 24 publications

The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients

The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients

High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population

Interacciones génicas implicadas en la aparición anticipada de cáncer de mama invasor en la población “paisa” - Colombia

Contact Info

Product

Resources

About