Contribution of BRCA1 and BRCA2 mutations to breast cancer in Tunisia

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e22191-e22191
Author(s):  
T. Wafa
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Hereditary Breast Cancer ◽  
Brca2 Mutation ◽  
Brca2 Gene ◽  
Brca1 Gene ◽  
Deleterious Mutations ◽  
Brca1 And Brca2 ◽  
Frameshift Mutations ◽  
History Of

e22191 Background: Hereditary breast cancer accounts for 3–8% of all breast cancers. It was recently estimated that a combination of BRCA1 and BRCA2 genes mutations is responsible for 30% of hereditary breast cancer cases. Methods: To investigate the prevalence of BRCA1 and BRCA2 gene mutations in breast cancer patients with affected relatives in Tunisia, 36 patients who had at least one first degree relative affected with breast and/or ovarian cancer were analysed. Thirty three patients are suggestive of BRCA1 mutation and 3 are suggestive of BRCA2 mutation. Results: Four mutations in BRCA1 gene were described among which, one novel splice site mutation (330 dupA) and 3 frameshift mutations including the 4160 delAG, the 2789 delG and the 5385 insC. Our study is the first to describe the 5385 insC mutation which was described only among Jewish Ashkenazi population. Two frameshift mutations (1537 del4 and 5909 insA) were screened in BRCA2 gene. Nineteen percent (7/36) of the familial cases were altered on BRCA1 or BRCA2 genes with deleterious mutations at heterozygous state and 55% (20/36) by mutation with uncertain value (UV) or by single nucleotide polymorphisms (SNPs). Conclusions: Almost all the cases mutated by deleterious mutations on BRCA1 gene reported a family history of breast and/or ovarian cancer in the index case or in their relatives. On the contrary, patients with an UV mutation or SNPs have no history of ovarian cancer in their corresponding families. Our data are the first to contribute to information on mutation spectrum of BRCA genes and offer a recommended screening mode for clinical genetic testing policy in Tunisia. No significant financial relationships to disclose.

scholarly journals Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation-Negative Hereditary Breast Cancer Families

2005 ◽  
Vol 97 (18) ◽  
pp. 1382-1384 ◽  
Author(s):  
Noah D. Kauff ◽  
Nandita Mitra ◽  
Mark E. Robson ◽  
Karen E. Hurley ◽  
Shaokun Chuai ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Hereditary Breast Cancer ◽  
Brca2 Mutation ◽  
Brca1 And Brca2

scholarly journals A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

2021 ◽  
Vol 22 (2) ◽  
pp. 889
Author(s):  
Ava Kwong ◽  
Cecilia Y. S. Ho ◽  
Vivian Y. Shin ◽  
Chun Hang Au ◽  
Tsun Leung Chan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca1 Gene ◽  
Pathogenic Mutation ◽  
Compound Heterozygous ◽  
Strong Family History ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Mutations ◽  
Increased Risk ◽  
History Of

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.

scholarly journals Primary multiple BRCA associated breast cancer and ovarian cancer (clinical case)

2020 ◽  
pp. 248-257
Author(s):  
I. B. Kononenko ◽  
A. V. Snegovoy ◽  
Y. A. Bozhchenko ◽  
D. N. Kravchenko ◽  
Vladimir Yu. Selchuk ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Clinical Case ◽  
Brca2 Mutation ◽  
Cumulative Risk ◽  
Brca2 Gene ◽  
Left Breast ◽  
Luminal A ◽  
Uterine Tube ◽  
Luminal B

Introduction. The study of mutation in BRCA1/2 genes was first initiated in the USA and Europe, and later in Russia. Statistics indicate that women with the BRCA1/BRCA2 mutation have a higher risk of breast and/or ovarian cancer than the general population. According to different authors, the average cumulative risk among BRCA1 carriers is 65% (range 44–78%) for breast cancer and 39% (range 18–54%) for ovarian cancer. For mutation carriers in the BRCA2 gene, the risk for breast cancer is 45–49%, while the risk for RNA is 11–18%. However, in patients already diagnosed with breast cancer or ovarian cancer, the risk of a second tumor persists throughout life and may remain high even in old age. Treatment of BRCA-associated breast cancer and/or ovarian cancer is almost the same as treatment for sporadic cancer, and includes surgical, radiation, and drug anticancer therapy. However, there are some features that need to be considered in clinical practice. Clinical case. In this article we present the clinical experience of the treatment of a 32-year-old patient with BRCA1-associated primary multiple synchronous breast cancer and metachronous uterine tube cancer. In July 2015, the patient was diagnosed with synchronous cancer of both breast (Luminal A right breast cancer and Luminal B left breast cancer). As part of a treatment and with the patient’s consent, a bilateral adnexectomy was performed. In the histological examination of the operating material, the uterine tube cancer was diagnosed in situ. From 16.03.2016 to the present time the patient receives adjuvant endocrinotherapy without signs of disease progression. Conclusion. This clinical case study presents the importance of a combined approach to the treatment and prevention of BRCAassociated cancer.

scholarly journals Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Joaira Bakkach ◽  
Mohamed Mansouri ◽  
Touria Derkaoui ◽  
Ali Loudiyi ◽  
ElMostafa El Fahime ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Brca2 Gene ◽  
Germline Mutations ◽  
Genetic Alterations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
History Of

Abstract Background To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco. Methods Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform. Results Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer. Conclusion Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.

scholarly journals Outcome of ovarian cancer after breast cancer in BRCA1 and BRCA2 mutation carriers

2016 ◽  
Vol 115 (10) ◽  
pp. 1174-1178 ◽  
Author(s):  
Leendert H Zaaijer ◽  
Helena C van Doorn ◽  
Marian J E Mourits ◽  
Marc van Beurden ◽  
Joanne A de Hullu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca2 Mutation ◽  
Brca1 And Brca2 ◽  
Mutation Carriers

scholarly journals Analysis of BRCA1 and BRCA2 genes mutations in breast cancer patients in an experiment

2020 ◽  
Vol 101 (3) ◽  
pp. 342-346
Author(s):  
L M Saрtarova ◽  
E N Cogina ◽  
L M Khasanshina ◽  
Sh N Galimov
Keyword(s):  
Breast Cancer ◽  
Cancer Risk ◽  
Brca2 Mutation ◽  
Venous Blood ◽  
Brca1 Gene ◽  
Control Group ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Screening Programs ◽  
Brca1 And Brca2 Genes

Aim. To assess the presence of mutations based on the analysis of the prevalence of polymorphisms in the BRCA1 and BRCA2 genes in patients admitted to the Republican clinical Oncology dispensary of the Ministry of Health of the Republic of Bashkortostan with breast cancer. Methods. 137 patients with breast cancer aged 25 to 80 years underwent molecular genetic testing to detect BRCA1 and BRCA2 mutations by using allele-specific real-time polymerase chain reaction. Venous blood from 105 healthy donors was used as a control group. Results. The study of genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers revealed mutations in the genes BRCA1 185delAG, 4153delA, 5382insC, T300G and BRCA2-6174 del T, which help identify genetic susceptibility to breast cancer (NSCLC). The most common form of genetic variation in patients with breast cancer was 5382insC mutation in BRCA1 gene, which was 14.59% of the total number of examined patients and 90% of the total number of positive results. BRCA1 and BRCA2 genes mutations lead to producing truncated protein, which cannot properly perform its functions and ensure DNA cell stability. Conclusion. Considering high breast cancer risk in BRCA1 and BRCA2 genes mutations carriers, our results show the advisability of including screening for 5382insC, 4153delA and T300G mutations in the BRCA1 gene to the screening programs for determining the risk of breast cancer.

BRCA1 and BRCA2 Mutation Frequency in Women Evaluated in a Breast Cancer Risk Evaluation Clinic

2002 ◽  
Vol 20 (4) ◽  
pp. 994-999 ◽  
Author(s):  
Helen A. Shih ◽  
Fergus J. Couch ◽  
Katherine L. Nathanson ◽  
M. Anne Blackwood ◽  
Timothy R. Rebbeck ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Risk Evaluation ◽  
Brca2 Mutation ◽  
Brca1 And Brca2 ◽  
Brca1 Mutations ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

PURPOSE: To determine the prevalence of BRCA1 and BRCA2 mutations in families identified in a breast cancer risk evaluation clinic. PATIENTS AND METHODS: One hundred sixty-four families seeking breast cancer risk evaluation were screened for coding region mutations in BRCA1 and BRCA2 by conformation-sensitive gel electrophoresis and DNA sequencing. RESULTS: Mutations were identified in 37 families (22.6%); 28 (17.1%) had BRCA1 mutations and nine (5.5%) had BRCA2 mutations. The Ashkenazi Jewish founder mutations 185delAG and 5382insC (BRCA1) were found in 10 families (6.1%). However, 6174delT (BRCA2) was found in only one family (0.6%) despite estimates of equal frequency in the Ashkenazi population. In contrast to other series, the average age of breast cancer diagnosis was earlier in BRCA2 mutation carriers (32.1 years) than in women with BRCA1 mutations (37.6 years, P = .028). BRCA1 mutations were detected in 20 (45.5%) of 44 families with ovarian cancer and 12 (75%) of 16 families with both breast and ovarian cancer in a single individual. Significantly fewer BRCA2 mutations (two [4.5%] of 44) were detected in families with ovarian cancer (P = .01). Eight families had male breast cancer; one had a BRCA1 mutation and three had BRCA2 mutations. CONCLUSION: BRCA1 mutations were three times more prevalent than BRCA2 mutations. Breast cancer diagnosis before 50 years of age, ovarian cancer, breast and ovarian cancer in a single individual, and male breast cancer were all significantly more common in families with BRCA1 and BRCA2 mutations, but none of these factors distinguished between BRCA1 and BRCA2 mutations. Evidence for reduced breast cancer penetrance associated with the BRCA2 mutation 6174delT was noted.

scholarly journals Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

2012 ◽  
Vol 21 (4) ◽  
pp. 645-657 ◽  
Author(s):  
Fergus J. Couch ◽  
Mia M. Gaudet ◽  
Antonis C. Antoniou ◽  
Susan J. Ramus ◽  
Karoline B. Kuchenbaecker ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Risk ◽  
Brca2 Mutation ◽  
Ovarian Cancer Risk ◽  
Common Variants ◽  
Brca1 And Brca2 ◽  
Mutation Carriers
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