Study of the BRCA1 and BRCA2 gene mutations and a large rearrangement in high-risk hereditary breast/ovarian cancer patients from Bahia, Brazil.

Objective: Cancer ovary is one of the fatal gynecologic malignancies worldwide. Since breast cancer (BRCA) genes are considered tumor suppressor genes and play important roles in cancer by repairing of chromosomal damage with the error repair of DNA breaks. Therefore, breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations strongly enhance the development of ovarian cancer risk among women. Here, we report that both genes are an essential mediator of progress ovarian cancer, to determine the influence of BRCA1 and BRCA2 mutations in the improvement of ovarian cancer.Methods: A total of 25 subjects were chosen for the genetic studies, and three groups were recruited: fifteen ovarian cancer patients group, five healthy controls, and five first-degree relatives to a known case of ovarian cancer patients.Results: A genetic analysis revealed that a strong correlation exists between both gene mutations’ status in ovarian cancer, and BRCA gene mutations (185delAG, 5382insC, and 4153delA in BRCA1 and 6174delT in BRCA2) remained to establish to have a relatively high frequency among people in this study among ovarian cancer patients. Furthermore, seven patients with ovarian cancer carried all of the four investigated mutations, and five had three mutations.Conclusion: Otherwise, BRCA gene frequency showed low prevalence among first-degree relatives, and to a lesser extent among healthy controls, with only a few had all of the mutations combined. These data demonstrate for the first time a molecular link between BRCA1 and BRCA2 mutations in ovarian cancer progression in Iraq.

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The contribution of LARGE genomic rearrangements of BRCA1 and BRCA2 gene mutations in breast and ovarian cancer families in a clinical cohort

Hereditary Cancer in Clinical Practice ◽

10.1186/1897-4287-10-s2-a89 ◽

2012 ◽

Vol 10 (Suppl 2) ◽

pp. A89

Author(s):

S Sawyer ◽

S Boyle ◽

MA Young ◽

S Kovalenko ◽

R Doherty ◽

...

Keyword(s):

Ovarian Cancer ◽

Gene Mutations ◽

Brca2 Gene ◽

Genomic Rearrangements ◽

Breast And Ovarian Cancer ◽

Brca1 And Brca2 ◽

Clinical Cohort ◽

Large Genomic Rearrangements

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BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients

Cancer Genetics ◽

10.1016/j.cancergen.2021.06.003 ◽

2021 ◽

Author(s):

Gemma Montalban ◽

Sandra Bonache ◽

Vanessa Bach ◽

Alexandra Gisbert-Beamud ◽

Anna Tenés ◽

...

Keyword(s):

Ovarian Cancer ◽

Cancer Patients ◽

Brca1 And Brca2 ◽

Hereditary Breast Ovarian Cancer ◽

Cdna Analysis

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Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

Breast Cancer Research and Treatment ◽

10.1007/s10549-007-9571-2 ◽

2007 ◽

Vol 107 (3) ◽

pp. 431-441 ◽

Cited By ~ 32

Author(s):

Irene Konstantopoulou ◽

Theodore Rampias ◽

Angela Ladopoulou ◽

George Koutsodontis ◽

Sophia Armaou ◽

...

Keyword(s):

Ovarian Cancer ◽

High Risk ◽

Cancer Patients ◽

Brca2 Mutation ◽

Mutation Spectrum ◽

Brca1 And Brca2 ◽

Brca1 Mutations ◽

High Risk Breast

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Hereditary Breast-Ovarian Cancer at the Bedside: Role of the Medical Oncologist

Journal of Clinical Oncology ◽

10.1200/jco.2003.05.096 ◽

2003 ◽

Vol 21 (4) ◽

pp. 740-753 ◽

Cited By ~ 39

Author(s):

Henry T. Lynch ◽

Carrie L. Snyder ◽

Jane F. Lynch ◽

Bronson D. Riley ◽

Wendy S. Rubinstein

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

Genetic Counseling ◽

Family History ◽

High Risk ◽

Hereditary Breast Cancer ◽

Present Report ◽

Brca1 And Brca2 ◽

Cancer Family ◽

Hereditary Breast Ovarian Cancer

Purpose: To provide practical considerations for diagnosing, counseling, and managing patients at high risk for hereditary breast cancer. Design: We have studied 98 extended hereditary breast cancer (HBC)/hereditary breast-ovarian cancer (HBOC) families with BRCA1/2 germline mutations. From these families, 1,315 individuals were counseled and sampled for DNA testing. Herein, 716 of these individuals received their DNA test results in concert with genetic counseling. Several challenging pedigrees were selected from Creighton University’s hereditary cancer family registry, as well as one family from Evanston/Northwestern Healthcare, to be discussed in this present report. Results: Many obstacles were identified in diagnosis, counseling, and managing patients at high risk for HBC/HBOC. These obstacles were early noncancer death of key relatives, perception of insurance or employment discrimination, fear, anxiety, apprehension, reduced gene penetrance, and poor compliance. Other important issues such as physician culpability and malpractice implications for failure to collect or act on the cancer family history were identified. Conclusion: When clinical gene testing emerged for BRCA1 and BRCA2, little was known about the efficacy of medical interventions. Potential barriers to uptake of testing were largely unexplored. Identification and referral of high-risk patients and families to genetic counseling can greatly enhance the care of the population at the highest risk for cancer. However, because premonitory physical stigmata are absent in most of these syndromes, an HBOC diagnosis may be missed unless a careful family history of cancer of the breast, ovary, or several integrally associated cancers is obtained.

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