Discussion About the BRCA1 and BRCA2 Genes

During puberty, breast tissue is hormonally controlled. Paracrine and endocrine hormones affect normal as well as neoplastic breast tissues. The issue of whether the breast tissue experiences morphological changes in the course of menstruation has been controversial. However, the late twentieth century studies have reflected conclusively that cyclical alterations occur within the breast lobules, stroma, and ducts. Clinically, the transformations manifest through modifications in consistency and size of the breast (Ellis, 2009). Cyclic expression of ER and d PR for estrogen and progesterone receptors respectively in normal breast tissue has been noted in varying phases during the normal menstrual cycle causing fibrocystic breast changes.

From research, it is affirmed that estrogen and progesterone have a huge impact on breast epithelium. Breast cancer cells depict a higher frequency in the expression of PR and ER ads compared to normal cells. It is fascinating that postmenopausal women with breast cancer reflect an increased frequency in ER and PR expression, as compared to premenopausal women indicating a likely hormonal stimulus (Ramakrishnan, 2002). Currently, breast tissues are examined particularly in premenopausal women who are not under hormonal therapy or oral contraceptives and morphologically assessed to determine the menstrual cycle stage they are in.

Normal breast tissue is hormonally responsive and modifies in the course of the menstrual cycle, which has an impact on breast morphology, cell kinetics as well as protein expression. Therefore, morphological breast dating is crucial for women to gather information on histological changes the breast tissue undergoes as hormones fluctuate (Croyle & Botkin, 2006). This could help to formulate cycle-matched subsets when conducting epidemiological research concerning the risks of breast cancer. Besides, it would offer a prognostic advantage for surgical patients in the luteal half of the menstrual cycle.

From research, it has been indicated that scans conducted at the time of follicular phase i.e. 3rd-14th day of the usual 28-day cycle lessened tissue augmentation because of hormonal variations. Perimenopausal women having regular menstruation, her menstrual history allows timely directions to conduct appropriate MRI exams. All the same, some females, have no regular cyclical menses to offer appropriate timing for MRI such as perimenopausal women who have done hysterectomy but have usual operational ovaries, those under oral/injectable contraceptives, those with chemically induced perimenopausal status, and perimenopausal women having irregular menses (Hampel, 2009). However, some clinicians ignore these factors and go-ahead to conduct MRIs for women with abnormal menstrual cycles disregarding the proper hormonal cycle timing, forcing them to undertake several un-diagnostic exams. According to Ellis, β€œSerum progesterone concentrations corresponding to the follicular phase of a normal menstrual cycle can aid in optimal scheduling of breast MRI examinations for premenopausal women who lack cyclical menses” (2009).

Discuss the BRCA 1 and BRCA 2 genes. What are the implications for a patient who has a harmful BRCA gene mutation, and how are such patients managed clinically? (max 1000 words)

BRCA 1 and BRCA 2 are genes for cancer1 and cancer 2 respectively. BRCA1 gene is categorized under a group of genes referred to as tumor suppressor genes. In most cases, tumor suppressors in the body produce a protein that is gotten direct from the BRCA1 gene and prevent cells from developing and subdividing at a higher rate by putting some control measures. Through the work of the BRCA1 gene, some instructions for producing proteins are relied upon in repairing the denatured DNA (Garber & Offit, 2005). Normal cells have a nucleus, whereby BRCA1 protein gets an opportunity to interrelate with several other proteins, especially the proteins from RAD51 and BARD1 genes. The interaction of these types of proteins helps in repairing the damages in DNA.

bottom of post
Scroll to Top