Factors Associated With Increased Complications in Patients With BRCA Gene Mutations Undergoing Reconstructive Breast Surgery

2021 ◽  
Vol 41 (1) ◽  
pp. 43-50 ◽  
Author(s):  
Nieves Vanaclocha ◽  
Francisco Ripoll Orts ◽  
Maria Luisa Moreda Rubio ◽  
Alberto Sánchez García
Author(s):  
N Besic ◽  
B Cernivc ◽  
J De Greve ◽  
K Lokar ◽  
M Krajc ◽  
...  

Author(s):  
Muhannad Shweash ◽  
Saddam Jumaa Naseer ◽  
Maisam Khider Al-anii ◽  
Thulfiqar Fawwaz Mutar

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.


2006 ◽  
Vol 6 (1) ◽  
pp. 35-41 ◽  
Author(s):  
Zakaria Einbeigi ◽  
Annika Bergman ◽  
Jeanne M. Meis-Kindblom ◽  
Anna Flodin ◽  
Cecilia Bjursell ◽  
...  

2018 ◽  
Vol 4 (Supplement 2) ◽  
pp. 141s-141s
Author(s):  
S. Ahmed ◽  
J. Tate ◽  
M. Thrift-Perry ◽  
S. Wait

Background and context: An estimated 12.5% of women are at risk for breast cancer. 5%-10% of these cases are hereditary, and of these, 20%-25% are due to BRCA gene mutations. Women with BRCA mutations are at higher risk of early onset, recurrence and of triple-negative breast cancer, with fewer treatment options. These women need to be supported to seek genetic testing as early as possible. They also need support and guidance to inform family members, consider preventive interventions and obtain appropriate care and counseling. Aim: To provide an overview of the BRCA genetic testing policy landscape in Europe and highlight barriers to women and their families to access testing, information and support. Strategy: A pragmatic review of international published and gray literature. With a focus on Europe and Israel, we looked for epidemiologic data in six countries and assessed the systems, policies and services in place for genetic testing, counseling and care. This was complemented by semistructured telephone interviews with healthcare professionals, researchers and patient representatives. Policy process: We must develop comprehensive cancer control plans that provide for high-quality prevention, treatment and care for all women with BRCA mutations, whether they develop breast cancer. The unmet needs of later-stage and more difficult-to-treat breast cancers, such as BRCA-mutated or triple-negative must not be neglected. Outcomes: Current BRCA genetic testing guidelines are insufficient. Testing eligibility is restricted to high-risk patients, despite evidence that over half of women diagnosed with BRCA-related breast cancer could be missed with this approach. Access barriers to information and services include: too few genetic counselors to provide information and support to women and their families; limited primary care genetics knowledge which may lead to low referral rates and unequal testing access based on region, age and race. Individuals may also forego testing for fear of discrimination by employers or insurance companies or the effect a positive test might have on families and relationships. What was learned: Opportunities to address the unmet needs of women considering BRCA genetic testing include: greater public awareness and understanding of testing; building professional capacity to better support those getting tested and policies to protect women against discrimination from employers or insurers. The emotional impact on women who undergo testing must also be considered, as well as the provision of appropriate information, support and care through every stage of a woman's experience. This research offers a starting point for discussion with policymakers and patient organizations to ensure pathways and policies are place which integrate the patient experience into comprehensive care pathways and national cancer control plans.


Author(s):  
Chunyan Hu ◽  
Katherine Beebe ◽  
Edgar J Hernandez ◽  
Jose M Lazaro-Guevara ◽  
Monica P Revelo ◽  
...  

Ift88 gene mutations cause primary cilia loss and polycystic kidney disease (PKD) in mice. Nephron Ift88 knockout (KO) at 2 months postnatal does not affect renal histology at 4 months postnatal and causes PKD only in males by 11 months postnatal. To identify factors associated with PKD development, kidneys from 4-month-old male and female control and Ift88 KO mice underwent transcriptomic, proteomic, western, metabolomic and lipidomic analysis. mRNAs involved in extracellular matrix (ECM) synthesis and degradation were selectively upregulated in male KO mice. Proteomic analysis was insufficiently sensitive to detect most ECM components, while western analysis paradoxically revealed reduced fibronectin and collagen I in male KO mice. Only male KO mice upregulated mRNAs encoding fibrinogen subunits and receptors for VEGF and PDGF; Per2, Per3 and Nrld2 clock mRNAs were selectively decreased in male KO mice. Proteomic, metabolomic and lipidomic analysis detected a relative (vs same sex control) decrease in factors involved in fatty acid ß-oxidation in female KO, while increased or unchanged levels in male KO, mice including medium chain acyl-CoA dehydrogenase, 3-hydroxybutyrate, and acylcarnitine. Three putative mRNA biomarkers of cystogenesis in male Ift88 KO mice (similar control levels between sexes and uniquely altered by KO in males) were identified, including high levels (Fga and Sdf2l1) and low levels (Banp) in male KO mice. These findings suggest that relative alterations in renal ECM metabolism, fatty acid ß-oxidation, and other pathways precede cystogenesis in Ift88 KO mice. In addition, potential novel biomarkers of cystogenesis in Ift88 KO mice have been identified.


2006 ◽  
Vol 32 ◽  
pp. S101
Author(s):  
N. Besic ◽  
B. Cernivc ◽  
J. De Greve ◽  
K. Lokar ◽  
S. Novakovic ◽  
...  

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