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Contribution of BRCA1 germline mutation in patients with sporadic breast cancer.

Malik FA, Ashraf S, Kayani MA, Jiang WG, Mir A, Ansar M, Baloch IA, Sadiq R - Int Semin Surg Oncol (2008)

Bottom Line: However, its germline mutational penetrance in sporadic breast cancer cases with respect to Pakistani population has not yet been very well defined.No germline mutation was observed on the remaining exons with respect sporadic breast cancer cases in Pakistani population.A vast majority of breast cancer cases are sporadic; the present study may be helpful for designing a better genetic screening tool for germline BRCA mutations in sporadic breast cancer patients of Pakistani population.

View Article: PubMed Central - HTML - PubMed

Affiliation: Cancer Genetics Lab; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan. fraz_cemb@yahoo.com.

ABSTRACT
Hereditary artifacts in BRCA1 gene have a significant contributory role in familial cases of breast cancer. However, its germline mutational penetrance in sporadic breast cancer cases with respect to Pakistani population has not yet been very well defined. This study was designed to assess the contributory role of germline mutations of this gene in sporadic cases of breast cancer. 150 cases of unilateral breast cancer patients, with no prior family history of breast cancer and no other disorders or diseases in general with age range 35-75 yrs, were included in this study.Mutational analysis for hot spots on Exon 2, 3 and 13 of BRCA1 was done by using Single Strand Conformational Polymorphism (SSCP). Sequence analysis revealed five variants (missense) and one novel splice site mutation at exon 13. No germline mutation was observed on the remaining exons with respect sporadic breast cancer cases in Pakistani population. A vast majority of breast cancer cases are sporadic; the present study may be helpful for designing a better genetic screening tool for germline BRCA mutations in sporadic breast cancer patients of Pakistani population. Further studies involving a screening of entire coding region of BRCA1 is required to explore the merits of genetic diagnosis and counseling in breast cancer patients.

No MeSH data available.


Related in: MedlinePlus

Graphical display of the number of participants from the four provinces.
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Figure 1: Graphical display of the number of participants from the four provinces.

Mentions: Breast cancer cases found suitable, after stringent initial screening (no family history, age of onset of disease, no other family prevailing disorders, no earlier sampling from any other group for any study) were 150 (table 1 and figure 1). They were classified into four main groups, with respect to ethnic and geographic origin: as Punjabi, Pathan, Balochi, and Sindhi. Females free from of haematological disease or malignancy, either in them or their family history, were involved in the study as controls. Blood was drawn with informed consent from patients and these females.


Contribution of BRCA1 germline mutation in patients with sporadic breast cancer.

Malik FA, Ashraf S, Kayani MA, Jiang WG, Mir A, Ansar M, Baloch IA, Sadiq R - Int Semin Surg Oncol (2008)

Graphical display of the number of participants from the four provinces.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2538523&req=5

Figure 1: Graphical display of the number of participants from the four provinces.
Mentions: Breast cancer cases found suitable, after stringent initial screening (no family history, age of onset of disease, no other family prevailing disorders, no earlier sampling from any other group for any study) were 150 (table 1 and figure 1). They were classified into four main groups, with respect to ethnic and geographic origin: as Punjabi, Pathan, Balochi, and Sindhi. Females free from of haematological disease or malignancy, either in them or their family history, were involved in the study as controls. Blood was drawn with informed consent from patients and these females.

Bottom Line: However, its germline mutational penetrance in sporadic breast cancer cases with respect to Pakistani population has not yet been very well defined.No germline mutation was observed on the remaining exons with respect sporadic breast cancer cases in Pakistani population.A vast majority of breast cancer cases are sporadic; the present study may be helpful for designing a better genetic screening tool for germline BRCA mutations in sporadic breast cancer patients of Pakistani population.

View Article: PubMed Central - HTML - PubMed

Affiliation: Cancer Genetics Lab; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan. fraz_cemb@yahoo.com.

ABSTRACT
Hereditary artifacts in BRCA1 gene have a significant contributory role in familial cases of breast cancer. However, its germline mutational penetrance in sporadic breast cancer cases with respect to Pakistani population has not yet been very well defined. This study was designed to assess the contributory role of germline mutations of this gene in sporadic cases of breast cancer. 150 cases of unilateral breast cancer patients, with no prior family history of breast cancer and no other disorders or diseases in general with age range 35-75 yrs, were included in this study.Mutational analysis for hot spots on Exon 2, 3 and 13 of BRCA1 was done by using Single Strand Conformational Polymorphism (SSCP). Sequence analysis revealed five variants (missense) and one novel splice site mutation at exon 13. No germline mutation was observed on the remaining exons with respect sporadic breast cancer cases in Pakistani population. A vast majority of breast cancer cases are sporadic; the present study may be helpful for designing a better genetic screening tool for germline BRCA mutations in sporadic breast cancer patients of Pakistani population. Further studies involving a screening of entire coding region of BRCA1 is required to explore the merits of genetic diagnosis and counseling in breast cancer patients.

No MeSH data available.


Related in: MedlinePlus