Changes in classification of genetic variants in BRCA1 and BRCA2

ConclusionAll variants with a change in classification in our cohort were down-staged towards no clinical significance by a panel of experts of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Prevention in families with Class 3 variants should be based on pedigree based risks and should not be guided by the presence of a VUS.
Source: Archives of Gynecology and Obstetrics - Category: OBGYN Source Type: research

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Yuqing Zhao To increase the antitumor activity of ginsenosides and acetylsalicylic acid, acid hydrolysis products of Panaxnotoginseng saponin were used as raw materials to be combined with salicylic acid to obtain ginsenoside salicylic acid derivatives. All derivatives were assessed for anti-cancer activity. A total of 20 target compounds were designed and synthesized. The cytotoxic activity on five cancer cell lines, including human colon cancer (HT-29), gastric cancer (BGC-823), cervical cancer (Hela), human breast cancer (MCF-7), human lung cancer cells (A549), and two normal cancer cell lines (human gastric epithel...
Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
Etienne Rouleau BRCA1 and BRCA2 are major breast cancer susceptibility genes whose pathogenic variants are associated with a significant increase in the risk of breast and ovarian cancers. Current genetic screening is generally limited to BRCA1/2 exons and intron/exon boundaries. Most identified pathogenic variants cause the partial or complete loss of function of the protein. However, it is becoming increasingly clear that variants in these regions only account for a small proportion of cancer risk. The role of variants in non-coding regions beyond splice donor and acceptor sites, including those that have no quali...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
ConclusionsThe copy number variation initially recognized as duplication of exon 1 –19 of theBRCA1 gene by MLPA analysis is a structural variation with breakpoints in theBRCA1 andDHX8 genes. Although currently to be classified as a variant of unknown significance, our family data indicates that this duplication may be a benign variation or at least of markedly reduced penetrance since it occursin trans with another known fully pathogenic variant in theBRCA1 gene.
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research
ConclusionsOur report showed a relatively higher incidence rate of occult cancer at 11.3% in PM specimens despite thorough pre-operative radiological evaluations, which included a breast MRI. Considering the occult cancer rates and the various pathological methods of our study and published studies, we propose the necessity of a histopathological protocol.
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research
AbstractPurposeKnowledge about the germline mutational spectrum among Brazilian with hereditary breast and ovarian cancer (HBOC) is limited. Only five studies have performed comprehensive BRCA  sequencing, corresponding to 1041 individuals among a Brazilian population of over 207 million people. Herein we aimed to determine the clinical and molecular characteristics of Brazilian patients who underwent oncogenetic counseling and genetic testing of a panel of high-risk and moderate-risk g enes from 2009 to 2017.MethodsMassively parallel sequencing was applied in 157 individuals (132 breast cancer-affected and 25 br...
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research
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Source: International Journal of Cancer - Category: Cancer & Oncology Authors: Tags: Research Article Source Type: research
Pyracantha fortuneana (Maxim.) contains many healthy ingredients, including selenium-enriched polysaccharides. Selenium-enriched polysaccharides from P. fortuneana (Se-PFPs) have anti-mutation and anti-oxidation activities, along with anti-tumor activity in ovarian cancer and breast cancer cells. Docetaxel (DTX) is widely applied in therapeutic treatment for ovarian cancer. However, its use ...
Source: Journal of Medicinal Plants Research - Category: Complementary Medicine Source Type: research
AbstractChoosing the optimal therapy for a patient's cancer has long been based on whether the cancer demonstrates a predictive marker of efficacy. The U.S. Food and Drug Administration (FDA) has now approved use of a targeted therapy based solely on tumor molecular markers (pembrolizumab for tumors with deficient mismatch repair [MMR] and high microsatellite instability [MSI]) and approved another therapy based solely on a germline mutation as the predictive marker of benefit (olaparib for BRCA carriers with ovarian or breast cancer) [New Engl J Med 2017;377:1409–1412, N Engl J Med 2012;366:1382–1392, N Eng J ...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Precision Medicine, Breast Cancer Precision Medicine Clinic: Molecular Tumor Board Source Type: research
This study's researchers approached all people turning 85 in 2006 in two cities in the UK for participation. At the beginning of the study in 2006-2007, there were 722 participants, 60 percent of whom were women. The participants provided researchers with information about what they ate every day, their body weight and height measurements, their overall health assessment (including any level of disability), and their medical records. The researchers learned that more than one-quarter (28 percent) of very old adults had protein intakes below the recommended dietary allowance. The researchers noted that older adults w...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Authors: Harvey A, Mielke N, Grimstead JW, Jones RE, Nguyen T, Mueller M, Baird DM, Hendrickson EA Abstract Poly-ADP ribose polymerase 1 (PARP1) is clinically important because of its synthetic lethality with breast cancer allele 1 and 2 mutations, which are causative for inherited breast and ovarian cancers. Biochemically, PARP1 is a single-stranded DNA break repair protein that is needed for preserving genomic integrity. In addition, PARP1 has been implicated in a veritable plethora of additional cellular pathways and thus its precise contribution(s) to human biology has remained obscure. To help address this def...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
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