BRCA2 Gene Mutations in Slovenian Male Breast Cancer Patients

Bešič, Nikola; Cernivc, B; Grève, Jacques De; Lokar, Katarina; Krajc, Mateja; Novakovic, Srdan; Žgajnar, Janez; Teugels, Erik

doi:10.1089/gte.2007.0071

Cited by 16 publications

(12 citation statements)

References 26 publications

(43 reference statements)

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“…Hence, we could expect an overall frequency of about 14.3% of BRCA2 germline mutations in Portuguese male breast cancer patients in an unselected hospital-based cohort. On the other hand, our data shows that germline BRCA1 mutations have a limited contribution to the pathogenesis of male breast cancer, which is in accordance with the literature [ 22 , 23 ].…”

Section: Discussionsupporting

confidence: 93%

Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas

Pinto¹,

Peixoto²,

Santos³

et al. 2016

PLoS ONE

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BRCA1 and BRCA2 mutations are responsible for hereditary breast and ovarian cancer, but they also confer an increased risk for the development of rarer cancers associated with this syndrome, namely, cancer of the pancreas, male breast, peritoneum, and fallopian tube. The objective of this work was to quantify the contribution of the founder mutations BRCA2 c.156_157insAlu and BRCA1 c.3331_3334del for cancer etiology in unselected hospital-based cohorts of Portuguese patients diagnosed with these rarer cancers, by using a strategy that included testing of archival tumor tissue. A total of 102 male breast, 68 pancreatic and 33 peritoneal/fallopian tube carcinoma cases were included in the study. The BRCA2 c.156_157insAlu mutation was observed with a frequency of 7.8% in male breast cancers, 3.0% in peritoneal/fallopian tube cancers, and 1.6% in pancreatic cancers, with estimated total contributions of germline BRCA2 mutations of 14.3%, 5.5%, and 2.8%, respectively. No carriers of the BRCA1 c.3331_3334del mutation were identified. During our study, a patient with an ampulla of Vater carcinoma was incidentally found to carry the BRCA2 c.156_157insAlu mutation, so we decided to test a consecutive series of additional 15 ampullary carcinomas for BRCA1/BRCA2 mutations using a combination of direct founder mutation testing and full gene analysis with next generation sequencing. BRCA2 mutations were observed with a frequency of 14.3% in ampulla of Vater carcinomas. In conclusion, taking into account the implications for both the individuals and their family members, we recommend that patients with these neoplasias should be offered BRCA1/BRCA2 genetic testing and we here show that it is feasible to test for founder mutations in archival tumor tissue. Furthermore, we identified for the first time a high frequency of germline BRCA2 mutations in ampullary cancers.

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Section: Discussionsupporting

confidence: 93%

Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas

Pinto¹,

Peixoto²,

Santos³

et al. 2016

PLoS ONE

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“…Complete screening of all BRCA1/2 exons was performed, using method of multiplex ligation-dependent probe amplification analysis (MLPA; MRC Holland, Amsterdam, the Netherlands) for detection of large genomic deletions and insertions, and using high-resolution melting, denaturing gradient gel electrophoresis and direct sequencing methods already reported, for small mutations. 8,9,11,12,13 …”

Section: Methodsmentioning

confidence: 99%

Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of age

Cvelbar

Hočevar

Novaković

et al. 2017

Radiology and Oncology

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BackgroundIn Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years.Patients and methodsAll clinical data have to be interpreted in the light of many changes happened in the field of EOC just in the last few years: new hystology stage classification (FIGO), new hystology types and differentiation grades classification, new therapeutic possibilities (PARP inhibitors available, also in Slovenia) and new guidelines for genetic counselling of EOC patients (National Comprehensive Cancer Network, NCCN), together with next-generation sequencing possibilities.ResultsCompliance rate at the invitation was 43.1%. In the group of 27 invited or previously tested patients with EOC diagnosed before the age of 45 years, five gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within the group was 18.5%. There were 4 gBRCA1 and 1 gBRCA2 mutations detected. In the extended group of 42 tested patients with EOC diagnosed before the age of 50 years, 14 gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within this extended, partially selected group was 33.3%. There were 11 gBRCA1 and 3 gBRCA2 mutations detected.ConclusionsThe rate of gBRCA1/2 mutation in tested unselected EOC patients under the age of 50 years was higher than 10%, namely 18.5%. Considering also a direct therapeuthic benefit of PARP inhibitors for BRCA positive patients, there is a double reason to offer genetic testing to all EOC patients younger than 50 years. Regarding clinical data, it is important to perform their re-interpretation in everyday clinical practice, because this may influence therapeutic possibilities to be offered.

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“…Among the mutations detected in BRCA2 gene, the most and the least frequent changes (c.7806-2A>G and c.3975_3978dupTGCT) were recognized in male BC cases. Additionally, c.7806-2A>G and c.5291C>G are only defined in Slovenian populations, and c.7806-2A>G and IVS16-2A> were considered as a founder mutation of this region [ 83 , 85 ]. In an assay on 379 HBOC Slovenian families, c.181T>G, c.1687C>T, and c.844_850dupTCATTAC were the most frequent BRCA1 mutations while c.7806-2A>G splicing alteration which was found in 13 families was the most BRCA2 one [ 86 ].…”

Section: Global Distribution Of Brca1 and mentioning

confidence: 99%

A Comprehensive Focus on Global Spectrum ofBRCA1andBRCA2Mutations in Breast Cancer

Karami

Mehdipour

2013

BioMed Research International

158

115

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Breast cancer (BC) is the most common cancer of women all over the world. BRCA1 and BRCA2 gene mutations comprise the most important genetic susceptibility of BC. Except for few common mutations, the spectrum of BRCA1 and BRCA2 mutations is heterogeneous in diverse populations. 185AGdel and 5382insC are the most important BRCA1 and BRCA2 alterations which have been encountered in most of the populations. After those Ashkenazi founder mutations, 300T>G also demonstrated sparse frequency in African American and European populations. This review affords quick access to the most frequent alterations among various populations which could be helpful in BRCA screening programs.

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BRCA2 Gene Mutations in Slovenian Male Breast Cancer Patients

Cited by 16 publications

References 26 publications

Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas

Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas

Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of age

A Comprehensive Focus on Global Spectrum ofBRCA1andBRCA2Mutations in Breast Cancer

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