Double heterozygous mutation in the BRCA1 and ATM genes involved in development of primary metachronous tumours: a case report

ConclusionsThe implementation of gene panels using NGS in the study of hereditary cancer involves the detection of heterozygous double mutations in genes of high and moderate penetrance for cancer, although with a low frequency.
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research

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In conclusion, our data showed differences in the distribution of the mutation spectrum of BRCA1 and BRCA2 in Turkey.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research
AbstractPARP (poly(ADP-ribose) polymerase) inhibitors represent a novel class of anti-cancer therapy; they take advantage of synthetic lethality and induce cell death by exploiting a defect in DNA repair. This class of medication was initially evaluated in patients with BRCA-associated tumors, but efficacy was also demonstrated in other populations. Since 2014, four PARP inhibitors have been approved in various indications: olaparib, niraparib, and rucaparib in high-grade serous ovarian cancer, and olaparib and talazoparib in metastatic breast cancer. The exact indications and study populations vary slightly between the di...
Source: Targeted Oncology - Category: Cancer & Oncology Source Type: research
CONCLUSIONS: Postmenopausal women with high/increasing ET are at increased risk of breast, ovarian and lung cancer. It is important that clinicians are aware of these risks as TVS is a common investigation. This article is protected by copyright. All rights reserved. PMID: 31614036 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Abstract AP-1 is a dimeric complex that is composed of JUN, FOS, ATF and MAF protein families. FOS-related antigen 1 (FRA1) which encoded by FOSL1 gene, belongs to the FOS protein family, and mainly forms an AP-1 complex with the protein of the JUN family to exert an effect. Regulation of FRA1 occurs at levels of transcription and post-translational modification, and phosphorylation is the major post-translational modification. FRA1 is mainly regulated by the mitogen-activated protein kinases signaling pathway and is degraded by ubiquitin-independent proteasomes. FRA1 can affect biological functions, such as tumor...
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Tags: Mol Biol Rep Source Type: research
NICE approves rucaparib for use on NHS Related items fromOnMedica Drug for hereditary ovarian cancer approved Cancer drugs to be re-evaluated Red tape delaying availability of new cancer drugs Is crowdfunding for cancer patients paying for ‘quackery’? NICE rejects breast cancer drug for NHS funding
Source: OnMedica Latest News - Category: UK Health Source Type: news
ConclusionsWomen with a benign ovarian tumor were at increased risk of breast cancer. This association was largely confined to women with a solid ovarian tumor, and the excess risk was present 20  years or more after the ovarian tumor diagnosis. The underlying mechanism is unknown and should be investigated further.
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research
AbstractPurposeWhile the spectrum of germline mutations inBRCA1/2 genes in the Israeli Jewish population has been extensively studied, there is a paucity of data pertaining to Israeli Arab high-risk cases.MethodsConsecutive Israeli Arab breast and/or ovarian cancer patients were recruited using an ethically approved protocol from January 2012 to February 2019. All ovarian cancer cases were referred forBRCA genotyping. Breast cancer patients were offeredBRCA sequencing and deletion/duplication analysis after genetic counseling, if the calculated risk for carrying aBRCA mutation by risk prediction algorithms was ≥10%.Resu...
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research
Abstract A basic concept of cancer management is that prevention or early detection is more effective than treating advanced stage disease. Genetic stratification of risk is one way to prioritise patients for screening programs or risk reducing surgery. This is particularly appropriate in respect to high penetrance genes such as BRCA1 and BRCA2 when the malignancies that can be prevented are as deadly as triple negative breast cancer and high grade serous ovarian cancer. Access to BRCA1 and BRCA2 germline sequencing is currently largely based upon family history. PMID: 31605662 [PubMed - as supplied by publisher]
Source: BJOG : An International Journal of Obstetrics and Gynaecology - Category: OBGYN Authors: Tags: BJOG Source Type: research
Waseem Abbas, Ranga Raju RaoIndian Journal of Cancer 2019 56(4):293-296Adjuvant ovarian suppression, on addition to chemotherapy, reduces the risk of breast cancer in pre-menopausal women after surgery and adjuvant hormonal therapy. Suppression of Ovarian Function Trial (SOFT) and Tamoxifen and Exemestane Trial (TEXT) showed greater benefit with exemestane in high risk females in comparison to Tamoxifen. Ovarian Function Suppression (OFS) and exemestane became the standard of care, with 30% patients experiencing grade 3 and more side effects. Much higher benefit was seen in high risk group. But there are concerns about inc...
Source: Indian Journal of Cancer - Category: Cancer & Oncology Authors: Source Type: research
ConclusionTRIM44 was associated with oncogenic potential of glioma. Targeting TRIM44 might be beneficial for glioma therapy.
Source: Journal of Neuro-Oncology - Category: Cancer & Oncology Source Type: research
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