Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia

Troudi, Wafa; Uhrhammer, Nancy; Sibille, Catherine; Dahan, Colette; Mahfoudh, Wijden; Souissi, C.; Jalabert, T.; Chouchane, Lotfi; Bignon, Yves‐Jean; Ayed, Farhat Ben; Elgaaied, Amel Ben Ammar

doi:10.1007/s10038-007-0195-5

Cited by 61 publications

(84 citation statements)

References 9 publications

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“…We note that the pathogenic mutations described in Algerian breast/ovarian cancer families in this report differ from that seen in Tunisian population despite that this study was also performed in Arabic/Berber population [20,21]. These findings could suggest a large BRCA1 and BRCA2 mutations spectrum in North African populations.…”

Section: Discussioncontrasting

confidence: 49%

BRCA1andBRCA2Germline Mutations Screening in Algerian Breast/Ovarian Cancer Families

et al. 2010

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Abstract.Background: Breast cancer is the leading cause of cancer death in women in Algeria. The contribution of BRCA1 and BRCA2 mutations to hereditary breast/ovarian cancer in Algerian population is largely unknown. Here, we describe analysis of BRCA1 and BRCA2 genes in 86 individuals from 70 families from an Algerian cohort with a personal and family history suggestive of genetic predisposition to breast cancer. Methods: The approach used is based on BRCA1 and BRCA2 mutations screening by High-Resolution Melting (HRM) curve analysis followed by direct sequencing. All samples for which no pathogenic mutation was found were analyzed by MLPA for large deletions or duplications. Results: Three distinct pathogenic mutations c.83 84delTG, c.181T>G, c.798 799delTT and two large rearrangements involving deletion of exon 2 and exon 8 respectively, were detected in BRCA1 gene. Moreover 17 unclassified variants and polymorphisms were detected in BRCA1 gene (6 described for the first time). Two pathogenic mutations, c.1310 1313delAAGA and c.5722 5723delCT and 40 unclassified variants and polymorphisms (14 never described before) were identified in BRCA2 gene. Conclusions: For the first time, we used HRM and MLPA to identify BRCA1 and BRCA2 mutations in Algerian patients with a personal and family history suggestive of genetic predisposition to breast cancer. The implications of these new findings in regard to genetic testing and counseling are substantial for the Algerian population.

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Section: Discussioncontrasting

confidence: 49%

BRCA1andBRCA2Germline Mutations Screening in Algerian Breast/Ovarian Cancer Families

et al. 2010

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“…Tazzite et al showed that 25.64% of patients carried BRCA1/2 mutations (Tazzite et al, 2012). This prevalence is higher compared to Tunisia and Algeria with respectively 19.4% and 11.4% of breast cancer patients carrying BRCA1/2 mutations (Troudi et al, 2007;Cherbal et al, 2010).…”

Section: Brca1/2 Mutations Found In Moroccan Patients Arementioning

confidence: 81%

Breast Cancer in Morocco: A Literature Review

Slaoui¹,

Rachid²,

Ibrahimi³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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In Morocco, breast cancer is the most prevalent cancer in women and a major public health problem. Several Moroccan studies have focused on studying this disease, but more are needed, especially at the genetic and molecular levels. It is therefore interesting to establish the genetic and molecular profile of Moroccan patients with breast cancer. In this paper, we will highlight some pertinent hypotheses that may enhance breast cancer care in Moroccan patients. This review will give a precise description of breast cancer in Morocco and propose some new markers for detection and prediction of breast cancer prognosis.

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“…The presence of a male proband or a male relative diagnosed with breast cancer is suggestive of BRCA2 mutation [10].…”

Section: Study Subjectsmentioning

confidence: 99%

Does Consanguinity Protect Against Breast Cancer in Tunisian Population?

W¹

2014

Hereditary Genet

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Consanguinity is highly prevalent in many parts of the world. The highest consanguinity rates (20% to 50% of all marriages) occur in North Africa, the Middle East, Southwest Asia and Southern India. The aim of this study is to assess the effect of consanguineous marriages on the incidence of sporadic and familial breast cancer in Tunisia.We ascertained the rate of consanguineous marriage and the average coefficient of inbreeding among 155 Tunisian patients diagnosed with sporadic or familial breast cancer.The coefficient of inbreeding among all breast cancer patients was 0,007. No difference was observed for sporadic (F=0.008) vs familial breast cancer (F=0.007). The coefficient of inbreeding was significantly lower in the breast cancer group than in the Tunisian general population (0.0157). Considering the age of the patients, the level of inbreeding was lower among patients older than 50 (F=0.0027), while those younger than 50 exhibited a coefficient of inbreeding similar to that of the general population (F=0.01).The protective effect of consanguinity against breast cancer, particularly for patients older than 50 years, may be related to the absence of major factors involved in the onset of breast cancer at an early age. This protective effect may be also related to the contribution of recessive alleles of modifier or low-penetrance genes in the homozygous state.

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Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia

Cited by 61 publications

References 9 publications

BRCA1andBRCA2Germline Mutations Screening in Algerian Breast/Ovarian Cancer Families

BRCA1andBRCA2Germline Mutations Screening in Algerian Breast/Ovarian Cancer Families

Breast Cancer in Morocco: A Literature Review

Does Consanguinity Protect Against Breast Cancer in Tunisian Population?

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