Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0006142 (breast cancer)
 160,383 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

BRCA1 and BRCA2 genes mutations seems to impact female fertility, in addition to increasing the risk of ovarian and breast cancer. Several studies had investigated this issue but data available are still controversial. In order to clarify the role of BRCA1 and BRCA2 mutations in female fertility and ovarian function we carried out a systematic review of the literature with the aim to establish a possible management's strategy of these patients. A review of current literature regarding BRCA mutation (BRCAm) and fertility was conducted using the PubMed tool to select remarkable articles with the keywords ''BRCA1/2 gene', "BRCA1/2 mutation", ''anti-Mullerian hormone'', ''female fertility'', ''ovarian reserve'' and ''premature ovarian failure''. In current literature there are controversial findings about the relation between BRCA genes mutations and lifespan of female reproductive age. Several studies showed an higher risk of premature ovarian insufficiency of BRCAs mutations carriers, according to lower serum AMH level, primordial follicle count, or fewer oocyte yield after ovarian stimulation; on the other hand more recent studies reported not significant differences in serum AMH level or in reproductive outcomes between mutated and non-mutated BRCA patients. For this reason, currently there isn't a strict recommendation for routine evaluation of fertility in female carriers of BRCA mutations. Nevertheless, the strong advice to complete childbearing by age 40 and then to undergo a riskreducing salpingo-oophorectomy and the increased risk of infertility as a result of anticancer treatment in breast cancer BRCAm patients, make the issue of fertility and pregnancy planning in these women worthy of consideration. Therefore, a dedicated counseling to discuss these issues, eventually associated with a personalized assessment of serum AMH or antral follicle count in order to have a panoramic view of ovarian reserve, may be useful in the management of these patients.
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PMID:BRCA1/2 genes mutations, ovarian reserve and female reproductive outcomes: a systematic literature review. 3274 51

Endoplasmic reticulum stress (ERS) is a crucial physiological and pathological process takes place in the endoplasmic reticulum that usually induced by various intracellular and extracellular factors. It causes multiple diseases, including breast cancer, hepatocellular carcinoma, and premature ovarian failure that mainly associates with the ovarian granulosa cells. To effectively alleviate and cure the ERS and following diseases, molecular signaling pathways that are responsible for inducing ERS must be deeply investigated. There are many intracellular pathways to initiate the ERS, among which, detailed molecular mechanism the UFM1-specific ligase 1 (UFL1) gene induced analogous ubiquitylation related pathway is still unclear. However, some researches have reported that the UFL1 gene is responsible for initiating the ERS in the ovarian granulosa cell and premature ovarian failure. In this article, a new, highly possible molecular signaling pathway is proposed and hoping to provide a unique aspect for the following researches about ERS, especially in the ovarian granulosa cell.
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PMID:Two potential molecular signaling pathways of the UFL1 gene to induce the endoplasmic reticulum stress and apoptosis of the ovarian granulosa cell. 3303 66


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