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Postmenopause
Published in Carolyn Torkelson, Catherine Marienau, Beyond Menopause, 2023
Carolyn Torkelson, Catherine Marienau
Maya, age 52, was struggling with frequent hot flashes and night sweats and felt that her symptoms were exacerbating depression. She wanted to start on hormone therapy but was concerned because her mother had been diagnosed with breast cancer at age 56, and her older sister, at age 50. Both mother and sister tested negative for the BRCA gene. She had two other sisters without breast cancer.
The Precision Medicine Approach in Oncology
Published in David E. Thurston, Ilona Pysz, Chemistry and Pharmacology of Anticancer Drugs, 2021
It is important for individuals to be counseled to confirm that they understand that even if a genetic test result is positive, although it means the risk of developing cancer is raised, it does not mean that development of cancer is imminent because genes only partly influence future health risks with other factors such as medical history, lifestyle and environment playing a role. Also, the presence of only one faulty BRCA gene means there is only a 50% chance of passing it on to children, and a 50% chance that each sibling will carry it. At present, insurance companies do not require disclosure of the results of predictive genetic tests for most policies, although this may change in the future.
Estrogen receptors, estrogens and colon cancer
Published in A. R. Genazzani, Hormone Replacement Therapy and Cancer, 2020
Carriers of the BRCA1 mutation, or their family members, do not show a higher incidence of colon cancer11,12, a finding that contrasts with the observation that breast cancer patients who carry the BRGA1 mutation have a four-fold increase in the risk of colon cancer compared with the general female population13. It is plausible that an as yet unidentified genetic alteration, whether or not involving a mutation of the BRCA1 gene, may be responsible for this association.
The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study
Published in Expert Review of Molecular Diagnostics, 2023
Dinh-Toi Chu, Mai Vu Ngoc Suong, Hue Vu Thi, Thuy-Duong Vu, Manh-Hung Nguyen, Vijai Singh
Currently, because BRCA1/2 test is extremely expensive, it is only available to patients whose family members have had a history of ovarian cancer or who want to be tested, so the gene bank of disease is still very inadequate [71]. By completing the BRCA1/2 gene mapping and performing the BRCA1/2 gene test combined with transcriptional gene profiling, unnecessary medical costs, and testing time can be reduced. Moreover, the reliability will be increased, and early screening will help us to target patients at early risk of OC and provide appropriate treatment. Comprehensive population testing, especially for those with a family history of OC, should be considered over the next few years for possible clinical management of ovarian cancer patients. Patients found to have BRCA gene mutations should be closely monitored and given the earliest possible treatment.
Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular diagnosis
Published in Expert Review of Molecular Diagnostics, 2022
Débora Leite Rocha, Patricia Ashton-Prolla, Clévia Rosset
A 44 years old female was referred for genetic cancer risk assessment due to a personal and family history of cancer. The patient was diagnosed with a triple-negative breast cancer at age 43 years treated with conservative breast surgery. She reported history of thyroid cancer in a brother at age 50, breast cancer at age 58 in her mother, and a maternal uncle with a brain tumor (meningioma) diagnosed at age 30 years. She also reported that distant relatives on her maternal side of the family (maternal grandmother relatives) had been diagnosed with breast and ovarian cancer, but further details were not available. Multi-gene panel testing (MGPT) in a commercial laboratory of 19 breast and gynecologic cancer predisposition genes (including validated CNV analysis) was performed and resulted in the identification of an out-of-frame deletion of the genomic region encompassing exons 4–7 of the BRCA1 gene. The deletion identified in the NGS MGPT was confirmed by an orthogonal technology. With this result, the proband underwent bilateral adenomastectomy and salpingo-oophorectomy. Similar deletions of exons 4–7 have been reported in individuals with the hereditary breast and ovarian cancer phenotype [202,203]; this rearrangement is also known as Del exons 5–8 in the literature. After genetic counseling, the patient siblings were tested and both were also carriers of the BRCA1 gene deletion, reinforcing the importance of the correct molecular diagnosis for the family.
Curcumin induces DNA damage by mediating homologous recombination mechanism in triple negative breast cancer
Published in Nutrition and Cancer, 2020
Gamze Guney Eskiler, Elvan Sahin, Asuman Deveci Ozkan, Ozlem Tugce Cilingir Kaya, Suleyman Kaleli
In response to dsDNA breaks, H2AX is phosphorylated at Ser139 to form γH2AX and thus, γH2AX foci plays role in the repair of DNA damage by HR and NHEJ (13,14). BRCA1 and RAD51 are key component of the HR mechanism. BRCA1, which is tumor suppressor gene, mediates genomic stability by repairing dsDNA breaks. Additionally, BRCA1 promotes RAD51-dependent HR mechanism (28–30). However, mutations in BRCA1 gene are associated with an increase the risk of breast cancer. Especially, up to 75% of breast cancers patients who carry mutated BRCA1 gene are TNBC. Furthermore, patients with TNBC may have a dysfunctional HR mechanism due to other defects in DNA damage repair genes (31–33). Thus, the relationship between cytotoxic agents induced dsDNA breaks and BRCA status needs to be further explored for TNBC patients.