Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer

Zahra Laarabi,Fatima; Cherkaoui Jaouad,Imane; Ouldim,Karim; Aboussair,Nisrine; Jalil,Abdelouahed; El Khalil El Gueddari,Brahim; Benjaafar,Noureddine; Sefiani,Abdelaziz

doi:10.3892/ol.2011.248

March-April 2011 Volume 2 Issue 2

Full Size Image

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

An International Open Access Journal Devoted to General Medicine.

March-April 2011 Volume 2 Issue 2

Full Size Image

Article

Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer

Authors:
- Fatima Zahra Laarabi
- Imane Cherkaoui Jaouad
- Karim Ouldim
- Nisrine Aboussair
- Abdelouahed Jalil
- Brahim El Khalil El Gueddari
- Noureddine Benjaafar
- Abdelaziz Sefiani
View Affiliations / Copyright

Affiliations: Centre de Génomique Humaine, Université Mohamed V Souissi, Rabat, Morocco, Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco, Service de Chirurgie Oncologique, Institut National d'Oncologie, Rabat, Morocco, Service de Radiothérapie, Institut National d'Oncologie, Rabat, Morocco
Pages: 389-393
|
Published online on: January 21, 2011

https://doi.org/10.3892/ol.2011.248
Expand metrics +

Abstract

Germline mutations in the BRCA1 and BRCA2 genes highly predispose to breast and ovarian cancers and are responsible for a substantial proportion of familial breast and ovarian cancers. No female individuals from families from Morocco affected by breast cancer with mutations of these genes have previously been reported, and clinicians in Morocco are unaccustomed to dealing with healthy female individuals carrying mutations in the BRCA genes. This study aimed to report the initial experience of a group of Moroccan investigators carrying out predictive genetic testing to detect a known familial mutation in healthy Moroccan females with a high risk of developing breast cancer and to introduce supervision of these asymptomatic female carriers as a new approach in the prevention and early diagnosis of breast and ovarian cancers in Morocco. Presymptomatic diagnosis was carried out using DNA genetic testing in 5 healthy Moroccan female individuals from three families with an elevated risk of developing breast cancer. These are the first Moroccan families reported to be affected by breast cancers associated with BRCA mutations. Presymptomatic diagnosis was carried out for breast cancer in 5 female individuals from three Moroccan families with BRCA mutations. Two of the families are the first reported incidence of the founder mutation Ashkenazi BRCA1-185_186delAG in Moroccan patients. The third family carried the known BRCA2 mutation c.5073dupA/p.trp1692metfsX3. We tested the presence of these mutations in 5 asymptomatic healthy females from the three families. Two sisters from family 1 carried the BRCA1-185_186delAG mutation, whereas the third female individual from family 2 carried the c.5073dupA/p.trp1692metfsX3 mutation. However, one healthy female individual and her mother from family 3 did not carry the familial mutation of the BRCA1 gene. This study found BRCA mutations in three asymptomatic subjects, suggesting that this is the first step towards the development of persistent medical monitoring of females from families with a history of breast and ovarian cancers. Consequently, it is crucial for oncologists in Morocco to initiate the supervision of healthy female individuals with genetic defects which may lead to hereditary cancers.

View Figures

View References

1	ACOG Committee on Practice Bulletins. Hereditary breast and ovarian cancer syndrome. Gynecol Oncol. 113:6–11. 2009. View Article : Google Scholar : PubMed/NCBI
2	Robson ME, Boyd J, Borgen PI and Cody HS III: Hereditary breast cancer. Curr Probl Surg. 38:387–480. 2001. View Article : Google Scholar : PubMed/NCBI
3	Risch HA, McLaughlin JR, Cole DE, et al: Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst. 98:1694–1706. 2006. View Article : Google Scholar : PubMed/NCBI
4	Rubin SC, Blackwood MA, Bandera C, et al: BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship to family history and implications for genetic testing. Am J Obstet Gynecol. 178:670–677. 1998. View Article : Google Scholar
5	Ratajska M, Brozek I, Senkus-Konefka E, Jassem J, Stepnowska M, Palomba G, Pisano M, Casula M, Palmieri G, Borg A and Limon J: BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland. Oncol Rep. 19:263–268. 2008.PubMed/NCBI
6	Mohamad HB: Counseling for male BRCA mutation carriers: a review. Apffelstaedt JP Breast. 17:441–450. 2008.PubMed/NCBI
7	Filippini S, Blanco A, Fernández-Marmiesse A, Alvarez-Iglesias V, Ruíz-Ponte C, Carracedo A and Vega A: Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families. BMC Med Genet. 29:402007. View Article : Google Scholar : PubMed/NCBI
8	Whittemore AS, Gong G and Itnyre J: Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based casecontrol studies of ovarian cancer. Am J Hum Genet. 60:496–504. 1997.PubMed/NCBI
9	Hanson H and Hodgson S: Cancer genetics and reproduction, best practice and research. Clin Obstet Gynaecol. 24:3–18. 2010.
10	Neuhausen SL: Ethnic differences in cancer risk resulting from genetic variation. Cancer. 86:2575–2582. 1999. View Article : Google Scholar : PubMed/NCBI
11	Ferla R, Calo V, Cascio S, Rinaldi G, Badalamenti G, Carreca I, Surmacz E, Colucci G, Bazan V and Russo A: Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol. 18:93–98. 2007. View Article : Google Scholar : PubMed/NCBI
12	Roa BB, Boyd AA, Volcik K, et al: Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 14:185–187. 1996. View Article : Google Scholar : PubMed/NCBI
13	Neuhausen S, Gilewski T, Norton L, et al: Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet. 13:126–128. 1996. View Article : Google Scholar : PubMed/NCBI
14	Uhrhammer N, Abdelouahab A, Lafarge L, Feillel V, Ben Dib A and Bignon YJ: BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases. Int J Med Sci. 5:197–202. 2008. View Article : Google Scholar : PubMed/NCBI
15	Antoniou A, Pharoah PD, Narod S, et al: Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 72:1117–1130. 2003. View Article : Google Scholar : PubMed/NCBI
16	King MC, Marks JH and Mandell JB: Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. New York Breast Cancer Study Group. Science. 302:643–646. 2003. View Article : Google Scholar : PubMed/NCBI
17	Loman N, Bladstrom A, Johannsson O, Borg A and Osson H: Cancer incidence in relatives of a population-based set of cases of early-onset breast cancer with a known BRCA1 and BRCA2 mutation status. Breast Cancer Res. 5:175–186. 2003. View Article : Google Scholar : PubMed/NCBI
18	Waters CM, Hoover AC, McClain LC, Moore TT, Rogers CT and Thornton K: Current guidelines and best practice evidence for intensified/enhanced breast cancer screening in women with BRCA mutations. J Nurs Pract. 5:447–453. 2009. View Article : Google Scholar

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer

This article is mentioned in:

Abstract

Figure 1

Related Articles