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Hereditary breast and ovarian cancer

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https://www.readbyqxmd.com/read/28936272/hereditary-gynaecologic-cancers-in-nepal-a-proposed-model-of-care-to-serve-high-risk-populations-in-developing-countries
#1
Hanoon P Pokharel, Neville F Hacker, Lesley Andrews
BACKGROUND: Endometrial, ovarian and breast cancers are paradigms for global health disparity. Women living in the developing world continue to present in later stages of disease and have fewer options for treatment than those in developed countries. Risk reducing surgery is of proven benefit for women at high risk of gynaecological cancer. There is no specific model for identification and management of such women in the developing world. METHODS: We have integrated data from our published audit of a major gynaecological oncology centre at Royal Hospital for Women in Australia, with data from our survey and a focus group discussion of Nepalese gynaecological health care professionals regarding genetic testing, and findings from the literature...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28931501/cancer-predisposition-cascade-screening-for-hereditary-breast-ovarian-cancer-and-lynch-syndromes-in-switzerland-study-protocol
#2
Maria C Katapodi, Valeria Viassolo, Maria Caiata-Zufferey, Christos Nikolaidis, Rosmarie Bührer-Landolt, Nicole Buerki, Rossella Graffeo, Henrik Csaba Horváth, Christian Kurzeder, Manuela Rabaglio, Michael Scharfe, Corinne Urech, Tobias E Erlanger, Nicole Probst-Hensch, Karl Heinimann, Viola Heinzelmann-Schwarz, Olivia Pagani, Pierre O Chappuis
BACKGROUND: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management...
September 20, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28930807/breadth-of-genetic-testing-selected-by-patients-at-risk-of-hereditary-breast-and-ovarian-cancer
#3
J Brian Szender, Jasmine Kaur, Katherine Clayback, Mollie L Hutton, June Mikkelson, Kunle Odunsi, Cara Dresbold
OBJECTIVE: The aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued. METHODS: A single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories...
September 19, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28914618/hereditary-breast-and-ovarian-cancer-syndrome-moving-beyond-brca1-and-brca2
#4
Lien N Hoang, Blake C Gilks
The recent implementation of next generation sequencing and multigene platforms has expanded the spectrum of hereditary breast and ovarian cancer syndrome, beyond the traditional genes BRCA1 and BRCA2. A large number of other moderate penetrance genes have now been uncovered, which also play critical roles in repairing double stranded DNA breaks through the homologous recombination pathway. This review discusses the landmark discoveries of BRCA1 and BRCA2, the homologous repair pathway and new genes discovered in hereditary breast and ovarian cancer syndrome, as well as their clinicopathologic significance and implications for genetic testing...
September 13, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28911102/fancj-helicase-controls-the-balance-between-short-and-long-tract-gene-conversions-between-sister-chromatids
#5
Sarmi Nath, Kumar Somyajit, Anup Mishra, Ralph Scully, Ganesh Nagaraju
The FANCJ DNA helicase is linked to hereditary breast and ovarian cancers as well as bone marrow failure disorder Fanconi anemia (FA). Although FANCJ has been implicated in the repair of DNA double-strand breaks (DSBs) by homologous recombination (HR), the molecular mechanism underlying the tumor suppressor functions of FANCJ remains obscure. Here, we demonstrate that FANCJ deficient human and hamster cells exhibit reduction in the overall gene conversions in response to a site-specific chromosomal DSB induced by I-SceI endonuclease...
September 6, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28905878/detecting-splicing-patterns-in-genes-involved-in-hereditary-breast-and-ovarian-cancer
#6
Grégoire Davy, Antoine Rousselin, Nicolas Goardon, Laurent Castéra, Valentin Harter, Angelina Legros, Etienne Muller, Robin Fouillet, Baptiste Brault, Anna S Smirnova, Fréderic Lemoine, Pierre de la Grange, Marine Guillaud-Bataille, Virginie Caux-Moncoutier, Claude Houdayer, Françoise Bonnet, Cécile Blanc-Fournier, Pascaline Gaildrat, Thierry Frebourg, Alexandra Martins, Dominique Vaur, Sophie Krieger
Interpretation of variants of unknown significance (VUS) is a major challenge for laboratories performing molecular diagnosis of hereditary breast and ovarian cancer (HBOC), especially considering that many genes are now known to be involved in this syndrome. One important way these VUS can have a functional impact is through their effects on RNA splicing. Here we present a custom RNA-Seq assay plus bioinformatics and biostatistics pipeline to analyse specifically alternative and abnormal splicing junctions in 11 targeted HBOC genes...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28895089/bilateral-salpingo-oophorectomy-versus-gnrh-analogue-in-the-adjuvant-treatment-of-premenopausal-breast-cancer-patients-cost-effectiveness-evaluation-of-breast-cancer-outcome-ovarian-cancer-prevention-and-treatment
#7
Gabriella Ferrandina, Giulia Amadio, Andrea Marcellusi, Elena Azzolini, Anna Puggina, Roberta Pastorino, Walter Ricciardi, Giovanni Scambia
BACKGROUND AND OBJECTIVE: There is no available evidence to recommend gonadotropin-releasing hormone (GnRH) analogue-based ovarian suppression versus bilateral salpingo-oophorectomy (BSO) in the adjuvant treatment of early breast cancer, since the two approaches are considered equivalent in terms of oncologic outcome. The role of surgical ovarian ablation has been revitalized based on the advances of minimally invasive surgery, and a better understanding of clinical and molecular basis of hereditary breast/ovarian cancer syndromes...
September 11, 2017: Clinical Drug Investigation
https://www.readbyqxmd.com/read/28884397/brca1-gene-function-and-deficiency
#8
REVIEW
Miho Takaoka, Yoshio Miki
The BRCA1 protein, a hereditary breast and ovarian cancer-causing gene product, is known as a multifunctional protein that performs various functions in cells. It is well known, along with BRCA 2, to cause hereditary breast and ovarian cancer, but here we will specifically focus on BRCA1. We introduce the mechanism and the latest report on homologous recombination repair, replication, involvement in checkpoint regulation, transcription, chromatin remodeling, and cytoplasmic function (centrosome regulation, apoptosis, selective autophagy), and consider the possibility of carcinogenesis from inhibition of the intracellular functions in each...
September 7, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28857764/moving-in-and-out-of-the-what-ifs-the-experiences-of-unaffected-women-living-in-families-where-a-breast-cancer-1-or-2-genetic-mutation-was-not-found
#9
Dawn Schroeder, Wendy Duggleby, Brenda L Cameron
BACKGROUND: In families where genetic testing for the breast cancer 1 and 2 genes (BRCA1/2) has not identified a deleterious mutation, the risk for hereditary breast cancer (HBC) can still be high when there is a strong family history. Little is known about how an awareness of risk for HBC impacts the everyday lives of unaffected women (no personal history for breast and/or ovarian cancer) in these families. OBJECTIVE: The aim of this study is to explore how unaffected women, living in BRCA1/2-negative families, experience living with risk for HBC...
August 26, 2017: Cancer Nursing
https://www.readbyqxmd.com/read/28833906/final-report-of-the-committee-on-gynecologic-oncology-the-japan-society-of-obstetrics-and-gynecology-on-a-fact-finding-questionnaire-on-the-status-of-treatment-of-hereditary-breast-and-ovarian-cancer-syndrome-in-japan
#10
Toyomi Satoh, Kiyoshi Takamatsu, Nobuhiro Takeshima, Hiroshi Kobayashi, Daisuke Aoki, Nao Suzuki
Hereditary breast and ovarian cancer syndrome (HBOC) is a hereditary tumor that can be definitively diagnosed by detection of germline mutation of the BRCA1 or BRCA2 gene. The HBOC Public Awareness and Management Sub-committee of the Tumor Committee, Japan Society of Obstetrics and Gynecology carried out a fact-finding survey on the status of treatment of HBOC in Japan. The directors of medical specialty teaching facilities were notified of the questionnaire by post, with the request for one respondent per facility...
August 17, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28832487/committee-opinion-no-716-the-role-of-the-obstetrician-gynecologist-in-the-early-detection-of-epithelial-ovarian-cancer-in-women-at-average-risk
#11
(no author information available yet)
Ovarian cancer is the second most common type of female reproductive cancer, and more women die from ovarian cancer than from cervical cancer and uterine cancer combined. Currently, there is no strategy for early detection of ovarian cancer that reduces ovarian cancer mortality. Taking a detailed personal and family history for breast, gynecologic, and colon cancer facilitates categorizing women based on their risk (average risk or high risk) of developing epithelial ovarian cancer. Women with a strong family history of ovarian, breast, or colon cancer may have hereditary breast and ovarian cancer syndrome (BRCA mutation) or hereditary nonpolyposis colorectal cancer (Lynch syndrome), and these women are at increased risk of developing ovarian cancer...
September 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28832484/practice-bulletin-no-182-hereditary-breast-and-ovarian-cancer-syndrome
#12
(no author information available yet)
Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome characterized by multiple family members with breast cancer, ovarian cancer, or both. Based on the contemporary understanding of the origins and management of ovarian cancer and for simplicity in this document, ovarian cancer also refers to fallopian tube cancer and primary peritoneal cancer. Clinical genetic testing for gene mutations allows more precise identification of those women who are at an increased risk of inherited breast cancer and ovarian cancer...
September 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28832478/committee-opinion-no-716-summary-the-role-of-the-obstetrician-gynecologist-in-the-early-detection-of-epithelial-ovarian-cancer-in-women-at-average-risk
#13
(no author information available yet)
Ovarian cancer is the second most common type of female reproductive cancer, and more women die from ovarian cancer than from cervical cancer and uterine cancer combined. Currently, there is no strategy for early detection of ovarian cancer that reduces ovarian cancer mortality. Taking a detailed personal and family history for breast, gynecologic, and colon cancer facilitates categorizing women based on their risk (average risk or high risk) of developing epithelial ovarian cancer. Women with a strong family history of ovarian, breast, or colon cancer may have hereditary breast and ovarian cancer syndrome (BRCA mutation) or hereditary nonpolyposis colorectal cancer (Lynch syndrome), and these women are at increased risk of developing ovarian cancer...
September 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28832475/practice-bulletin-no-182-summary-hereditary-breast-and-ovarian-cancer-syndrome
#14
(no author information available yet)
Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome characterized by multiple family members with breast cancer, ovarian cancer, or both. Based on the contemporary understanding of the origins and management of ovarian cancer and for simplicity in this document, ovarian cancer also refers to fallopian tube cancer and primary peritoneal cancer. Clinical genetic testing for gene mutations allows more precise identification of those women who are at an increased risk of inherited breast cancer and ovarian cancer...
September 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28822557/family-history-of-cancer-predicts-endometrial-cancer-risk-independently-of-lynch-syndrome-implications-for-genetic-counselling
#15
Sharon E Johnatty, Yen Y Tan, Daniel D Buchanan, Michael Bowman, Rhiannon J Walters, Andreas Obermair, Michael A Quinn, Penelope B Blomfield, Alison Brand, Yee Leung, Martin K Oehler, Judy A Kirk, Tracy A O'Mara, Penelope M Webb, Amanda B Spurdle
OBJECTIVE: To determine endometrial cancer (EC) risk according to family cancer history, including assessment by degree of relatedness, type of and age at cancer diagnosis of relatives. METHODS: Self-reported family cancer history was available for 1353 EC patients and 628 controls. Logistic regression was used to quantify the association between EC and cancer diagnosis in ≥1 first or second degree relative, and to assess whether level of risk differed by degree of relationship and/or relative's age at diagnosis...
August 16, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28818315/screening-for-familial-cancer-risk-focus-on-breast-cancer
#16
REVIEW
Christine Rousset-Jablonski, Anne Gompel
A breast or an ovarian cancer occurring at a young age and/or in a family where other cases preexist suggests that those patients should be candidates for screening for mutations. Despite decades of medical research, less than 30% of cases with a suggestive personal and/or family history of hereditary breast cancer have an identified causative gene mutation. The vast majority of these cases are due to a mutation in one of the highly penetrant breast cancer genes (BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11) and various guidelines direct the management of these patients...
August 7, 2017: Maturitas
https://www.readbyqxmd.com/read/28807866/brca1-2-missense-mutations-and-the-value-of-in-silico-analyses
#17
Carolin E Sadowski, Daniela Kohlstedt, Cornelia Meisel, Katja Keller, Kerstin Becker, Luisa Mackenroth, Andreas Rump, Evelin Schröck, Pauline Wimberger, Karin Kast
INTRODUCTION: The clinical implications of genetic variants in BRCA1/2 in healthy and affected individuals are considerable. Variant interpretation, however, is especially challenging for missense variants. The majority of them are classified as variants of unknown clinical significance (VUS). Computational (in-silico) predictive programs are easy to access, but represent only one tool out of a wide range of complemental approaches to classify VUS. With this single-center study, we aimed to evaluate the impact of in-silico analyses in a spectrum of different BRCA1/2 missense variants...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28791541/cancer-counseling-of-low-income-limited-english-proficient-latina-women-using-medical-interpreters-implications-for-shared-decision-making
#18
Daniella Kamara, Jon Weil, Janey Youngblom, Claudia Guerra, Galen Joseph
In cancer genetic counseling (CGC), communication across language and culture challenges the model of practice based on shared decision-making. To date, little research has examined the decision-making process of low-income, limited English proficiency (LEP) patients in CGC. This study identified communication patterns in CGC sessions with this population and assessed how these patterns facilitate or inhibit the decision-making process during the sessions. We analyzed 24 audio recordings of CGC sessions conducted in Spanish via telephone interpreters at two public hospitals...
August 9, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28763932/-the-progress-and-prospect-of-application-of-genetic-testing-technology-based-gene-detection-technology-in-the-diagnosis-and-treatment-of-hereditary-cancer
#19
J X He, Y F Jiang
Hereditary cancer is caused by specific pathogenic gene mutations. Early detection and early intervention are the most effective ways to prevent and control hereditary cancer. High-throughput sequencing based genetic testing technology (NGS) breaks through the restrictions of pedigree analysis, provide a convenient and efficient method to detect and diagnose hereditary cancer. Here, we introduce the mechanism of hereditary cancer, summarize, discuss and prospect the application of NGS and other genetic tests in the diagnosis of hereditary retinoblastoma, hereditary breast and ovarian cancer syndrome, hereditary colorectal cancer and other complex and rare hereditary tumors...
August 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/28738860/germline-emsy-sequence-alterations-in-hereditary-breast-cancer-and-ovarian-cancer-families
#20
Kirsi M Määttä, Riikka Nurminen, Minna Kankuri-Tammilehto, Anne Kallioniemi, Satu-Leena Laasanen, Johanna Schleutker
BACKGROUND: BRCA1 and BRCA2 mutations explain approximately one-fifth of the inherited susceptibility in high-risk Finnish hereditary breast and ovarian cancer (HBOC) families. EMSY is located in the breast cancer-associated chromosomal region 11q13. The EMSY gene encodes a BRCA2-interacting protein that has been implicated in DNA damage repair and genomic instability. We analysed the role of germline EMSY variation in breast/ovarian cancer predisposition. The present study describes the first EMSY screening in patients with high familial risk for this disease...
July 24, 2017: BMC Cancer
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