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https://www.readbyqxmd.com/read/28334425/risk-reducing-salpingectomy-let-us-be-opportunistic
#1
REVIEW
Kara C Long Roche, Nadeem R Abu-Rustum, Mlica Nourmoussavi, Oliver Zivanovic
Because there is no screening test for ovarian cancer, effective prevention strategies may be the best way to reduce the mortality of this most lethal gynecologic malignancy. Increasing evidence supports the hypothesis that the fallopian tube is the site of origin for the vast majority of high-grade serous carcinomas. Our growing understanding of the pathogenesis of this disease offers a rare opportunity to explore new preventive measures, such as bilateral salpingectomy, which may provide great benefit without compromising ovarian function...
March 23, 2017: Cancer
https://www.readbyqxmd.com/read/28333842/review-article-sexuality-and-risk-reducing-salpingo-oophorectomy
#2
Paige E Tucker, Paul A Cohen
INTRODUCTION: Women with familial cancer syndromes such as hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2) and Lynch syndrome are at a significantly increased risk of developing ovarian cancer and are advised to undergo prophylactic removal of their ovaries and fallopian tubes at age 35 to 40 years, after childbearing is complete. METHODS: A comprehensive literature search of studies on risk-reducing salpingo-oophorectomy (RRSO), sexuality, and associated issues was conducted in MEDLINE databases...
March 23, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28327891/somatic-brca2-bi-allelic-loss-in-the-primary-prostate-cancer-was-associated-to-objective-response-to-parpi-in-a-sporadic-crpc-patient
#3
N Romero-Laorden, E Piñeiro-Yañez, A Gutierrez-Pecharoman, M I Pacheco, E Calvo, F Al-Shahrour, E Castro, D Olmos
No abstract text is available yet for this article.
February 27, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28324225/spectrum-of-genetic-variants-of-brca1-and-brca2-in-a-german-single-center-study
#4
Cornelia Meisel, Carolin Eva Sadowski, Daniela Kohlstedt, Katja Keller, Franziska Stäritz, Nannette Grübling, Kerstin Becker, Luisa Mackenroth, Andreas Rump, Evelin Schröck, Norbert Arnold, Pauline Wimberger, Karin Kast
BACKGROUND: Determination of mutation status of BRCA1 and BRCA2 has become part of the clinical routine. However, the spectrum of genetic variants differs between populations. The aim of this study was to deliver a comprehensive description of all detected variants. METHODS: In families fulfilling one of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) criteria for genetic testing, one affected was chosen for analysis. DNA of blood lymphocytes was amplified by PCR and prescreened by DHPLC...
March 21, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28323334/the-emerging-role-of-homologous-recombination-repair-and-parp-inhibitors-in-genitourinary-malignancies
#5
REVIEW
Kalen J Rimar, Phuoc T Tran, Richard S Matulewicz, Maha Hussain, Joshua J Meeks
As cells age and are exposed to genotoxic stress, preservation of the genomic code requires multiple DNA repair pathways to remove single-strand or double-strand breaks. Loss of function somatic genomic aberrations or germline deficiency in genes involved in DNA repair can result in acute cell death or, after a latency period, cellular transformation. Therapeutic exploitation of DNA repair by inhibition of poly (adenosine diphosphate [ADP]) ribose polymerases (PARP), a family of enzymes involved in the repair of single-strand and in some cases double-strand breaks, has become a novel cancer treatment...
March 21, 2017: Cancer
https://www.readbyqxmd.com/read/28319063/compromised-brca1-palb2-interaction-is-associated-with-breast-cancer-risk
#6
T K Foo, M Tischkowitz, S Simhadri, T Boshari, N Zayed, K A Burke, S H Berman, P Blecua, N Riaz, Y Huo, Y C Ding, S L Neuhausen, B Weigelt, J S Reis-Filho, W D Foulkes, B Xia
The major breast cancer suppressor proteins BRCA1 and BRCA2 play essential roles in homologous recombination (HR)-mediated DNA repair, which is thought to be critical for tumor suppression. The two BRCA proteins are linked by a third tumor suppressor, PALB2, in the HR pathway. While truncating mutations in these genes are generally pathogenic, interpretation of missense variants remains a challenge. To date, patient-derived missense variants that disrupt PALB2 binding have been identified in BRCA1 and BRCA2; however, there has not been sufficient evidence to prove their pathogenicity in humans, and no variants in PALB2 that disrupt either its BRCA1 or BRCA2 binding have been reported...
March 20, 2017: Oncogene
https://www.readbyqxmd.com/read/28315974/inherited-dna-repair-gene-mutations-detected-by-tumor-next-generation-sequencing-in-urinary-tract-cancers
#7
Sumati Gupta, Samantha Greenberg, Jade Grimmett, David Gaston, Neeraj Agarwal, William Lowrance, Joshua Schiffman, Wendy Kohlmann
Interpretation of next-generation sequencing (NGS) of tumor tissue in patients with advanced Urinary Tract Cancer (UTC) is performed to guide treatment selection but may reveal pathogenic variants with germline implications. We identified three patients with UTC with unexpected germline DNA repair gene mutations. Specific testing for these was prompted by the detection of these mutations by tumor NGS. All three patients were nonsmokers with a strong family history of cancer. Two patients had upper tract UTC with age at diagnosis in the 40 s...
March 18, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28314314/familial-gastrointestinal-stromal-tumor-with-germline-kit-mutations-accompanying-hereditary-breast-and-ovarian-cancer-syndrome
#8
Yuki Sekido, Seiji Ohigashi, Tsuyoshi Takahashi, Naoki Hayashi, Koyu Suzuki, Seiichi Hirota
BACKGROUND: Familial gastrointestinal stromal tumor (GIST) is a rare disease with germline mutations in the c-kit gene (KIT) or platelet-derived growth factor receptor alpha gene (PDGFRA). We had encountered multiple GISTs in the stomach and small intestine during a screening of ovarian cancer for a woman with hereditary breast and ovarian cancer syndrome (HBOC) with breast cancer susceptibility gene II (BRCA2) mutations. The aim of this study was to examine this case in detail. CASE REPORT: A 65-year-old woman diagnosed with HBOC harboring BRCA2 mutations was found to have multiple tumors in the stomach and small intestine by abdominal screening...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28304071/erratum-screening-for-germline-brca1-brca2-tp53-and-chek2-mutations-in-families-at-risk-for-hereditary-breast-cancer-identified-in-a-population-based-study-from-southern-brazil
#9
(no author information available yet)
[This corrects the article doi: 10.1590/1678-4685-GMB-2014-0363].
March 16, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28302823/parp-inhibitors-synthetic-lethality-in-the-clinic
#10
REVIEW
Christopher J Lord, Alan Ashworth
PARP inhibitors (PARPi), a cancer therapy targeting poly(ADP-ribose) polymerase, are the first clinically approved drugs designed to exploit synthetic lethality, a genetic concept proposed nearly a century ago. Tumors arising in patients who carry germline mutations in either BRCA1 or BRCA2 are sensitive to PARPi because they have a specific type of DNA repair defect. PARPi also show promising activity in more common cancers that share this repair defect. However, as with other targeted therapies, resistance to PARPi arises in advanced disease...
March 17, 2017: Science
https://www.readbyqxmd.com/read/28299955/niraparib-for-the-treatment-of-ovarian-cancer
#11
Yada Kanjanapan, Stephanie Lheureux, Amit M Oza
Introduction Poly(adenosine diphosphate-ribose) polymerase (PARP) inhibitors are being developed in maintenance and recurrence treatment settings in ovarian cancer. They inhibit single-stranded DNA repair, inducing synthetic lethality in cells with underlying homologous recombination deficiency (HRD). Marked responses are seen in ovarian cancers with breast cancer gene 1 (BRCA1) or 2 (BRCA2) mutation, although up to 50% of high-grade serous ovarian cancers (HGSOC) have HRD may also benefit. Areas covered This review focuses on niraparib (oral PARP I and II inhibitor), its clinical testing in ovarian cancer, including the Myriad MyChoice HRD test as a potential companion diagnostic...
March 16, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28299801/bi-allelic-alterations-in-dna-repair-genes-underpin-homologous-recombination-dna-repair-defects-in-breast-cancer
#12
Robert W Mutter, Nadeem Riaz, Charlotte K Y Ng, Rob Delsite, Salvatore Piscuoglio, Marcia Edelweiss, Luciano G Martelotto, Rita A Sakr, Tari A King, Dilip D Giri, Maria Drobnjak, Edi Brogi, Ranjit Bindra, Giana Bernheim, Raymond S Lim, Pedro Blecua, Alexis Desrichard, Dan Higginson, Russell Towers, Ruomu Jiang, William Lee, Britta Weigelt, Jorge S Reis-Filho, Simon N Powell
Homologous recombination (HR) DNA repair deficient (HRD) breast cancers have been shown to be sensitive to DNA repair targeted therapies. Burgeoning evidence suggests that sporadic breast cancers, lacking germline BRCA1/BRCA2 mutations, may also be HRD. We developed a functional ex vivo RAD51-based test to identify HRD primary breast cancers. An integrated approach examining methylation, gene expression and whole-exome sequencing was employed to ascertain the etiology of HRD. Functional HRD breast cancers displayed genomic features of lack of competent HR, including large-scale state transitions and specific mutational signatures...
March 15, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28299592/the-effect-of-a-celebrity-health-disclosure-on-demand-for-health-care-trends-in-brca-testing-and-subsequent-health-services-use
#13
Megan C Roberts, Stacie B Dusetzina
In May 2013, an internationally renowned celebrity-Angelina Jolie-disclosed her receipt of BRCA1/BRCA2 (BRCA) testing and subsequent double mastectomy in a highly publicized editorial. Publicity surrounding celebrity health services use increases awareness of important health issues and demand for health services. We aimed to describe BRCA testing trends before and after Jolie's disclosure, breast cancer-related services use following testing, and test reimbursement trends. MarketScan Commercial Claims data were used to compare trends in BRCA testing before and after Jolie's health disclosure using an interrupted time series model among women aged 18-64...
March 15, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28294317/the-spectrum-of-brca-mutations-and-characteristics-of-brca-associated-breast-cancers-in-china-screening-of-2991-patients-and-1043-controls-by-next-generation-sequencing
#14
Guan-Tian Lang, Jin-Xiu Shi, Xin Hu, Chen-Hui Zhang, Ling Shan, Chuan-Gui Song, Zhi-Gang Zhuang, A-Yong Cao, Hong Ling, Ke-Da Yu, Li Shan, Meng-Hong Sun, Xiao-Yan Zhou, Wei Huang, Zhi-Ming Shao
To characterize the prevalence of BRCA mutations and characteristics of BRCA carriers in China and to update the clinical recommendations for BRCA testing, we conducted a wide screen for BRCA mutations using next-generation sequencing (NGS). A total of 4,034 Chinese subjects were screened for germline BRCA1/2 mutations, including 2,991 breast cancer patients and 1,043 healthy individuals from the community enrolled as controls. We developed an NGS-based approach to perform BRCA1/2 screening. BRCA mutations were identified in 9...
March 14, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28292362/invasive-ductal-carcinoma-correlation-of-immunophenotypic-features-with-age
#15
Fouzia Lateef, Saba Jamal, Surrayya Nasir, Zainab Jamil
OBJECTIVE: To evaluate the frequency of hormone receptors and Her2neu expression and their correlation with age in patients of carcinoma breast. STUDY DESIGN: Descriptive, cross-sectional study. PLACE AND DURATION OF STUDY: Department of Histopathology, Dr. Ziauddin Hospital, Karachi, between the period 2006 - 2013. METHODOLOGY: Estrogen receptors, progesterone receptors and Her2neu immunohistochemical staining was performed on all specimens of carcinoma breast of female patients...
January 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28291774/brca2-secondary-mutation-mediated-resistance-to-platinum-and-parp-inhibitor-based-therapy-in-pancreatic-cancer
#16
Michael J Pishvaian, Andrew V Biankin, Peter Bailey, David K Chang, Daniel Laheru, Christopher L Wolfgang, Jonathan R Brody
BACKGROUND: Pancreatic cancer has become the third leading cause of cancer death with minimal improvements in outcome for over 40 years. Recent trials of therapies that target-defective DNA maintenance using poly (ADP-ribose) polymerase (PARP) inhibitors are showing promising results, yet invariably patients recur and succumb to disease. Mechanisms of resistance to platinum-based and PARP inhibitor therapy in other cancer types include secondary mutations, which restore the integrity of DNA repair through an increasing number of different mechanisms...
March 14, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28291131/study-of-selected-brca1-brca2-and-pik3ca-mutations-in-benign-and-malignant-lesions-of-anogenital-mammary-like-glands
#17
Anastasia M Konstantinova, Ksenya V Shelekhova, Evgeny N Imyanitov, Aglaya Iyevleva, Denisa Kacerovska, Michal Michal, Dmitry V Kazakov
Anogenital mammary-like glands (AGMLGs) are nowadays considered a normal component of the anogenital area. Lesions involving AGMLGs are histopathologically very similar to their mammary counterparts, but the information on molecular biological mechanisms in these vulvar/perianal tumors is scarce. Mutations in the PI3K-AKT cascade have been found in hidradenoma papilliferum. The authors studied selected BRCA1, BRCA2, and PIK3CA mutations in series of benign and malignant neoplasms thought to be associated with AGMLGs, including 9 cases of primary extramammary Paget disease, 3 different cases of mammary-type carcinoma (adenoid cystic like, tubulolobular, and invasive ductal like), and 5 cases of hidradenoma papilliferum...
March 9, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28288110/hrdetect-is-a-predictor-of-brca1-and-brca2-deficiency-based-on-mutational-signatures
#18
Helen Davies, Dominik Glodzik, Sandro Morganella, Lucy R Yates, Johan Staaf, Xueqing Zou, Manasa Ramakrishna, Sancha Martin, Sandrine Boyault, Anieta M Sieuwerts, Peter T Simpson, Tari A King, Keiran Raine, Jorunn E Eyfjord, Gu Kong, Åke Borg, Ewan Birney, Hendrik G Stunnenberg, Marc J van de Vijver, Anne-Lise Børresen-Dale, John W M Martens, Paul N Span, Sunil R Lakhani, Anne Vincent-Salomon, Christos Sotiriou, Andrew Tutt, Alastair M Thompson, Steven Van Laere, Andrea L Richardson, Alain Viari, Peter J Campbell, Michael R Stratton, Serena Nik-Zainal
Approximately 1-5% of breast cancers are attributed to inherited mutations in BRCA1 or BRCA2 and are selectively sensitive to poly(ADP-ribose) polymerase (PARP) inhibitors. In other cancer types, germline and/or somatic mutations in BRCA1 and/or BRCA2 (BRCA1/BRCA2) also confer selective sensitivity to PARP inhibitors. Thus, assays to detect BRCA1/BRCA2-deficient tumors have been sought. Recently, somatic substitution, insertion/deletion and rearrangement patterns, or 'mutational signatures', were associated with BRCA1/BRCA2 dysfunction...
March 13, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28285342/prevalence-of-two-brca1-mutations-5382insc-and-300t%C3%A2-%C3%A2-g-in-ovarian-cancer-patients-from-ukraine
#19
I Gorodetska, S Serga, T Lahuta, L Ostapchenko, S Demydov, N Khranovska, O Skachkova, M Inomistova, O Kolesnik, V Svintsitsky, N Tsip, A Peresunko, N Kmit', O Manzhura, Z Rossokha, O Popova, H Salomakhina, S Kyriachenko, I Kozeretska
Ovarian cancer is the seventh most common cancer in women worldwide and the leading cause of gynecological malignant diseases-related deaths in women. The most significant risk factor for ovarian cancer is an inherited genetic mutation in one of two genes: breast cancer gene 1 (BRCA1) or breast cancer gene 2 (BRCA2). The germline mutation c.5266dupC (also known as 5382insC or 5385insC) is the most common mutation among Slavic patients with breast and/or ovarian cancer. Missense mutation c.181T > G (also known as 300T > G or p...
March 11, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28285055/the-role-of-routine-peritoneal-and-omental-biopsies-at-risk-reducing-salpingo-oophorectomy
#20
Heather Miller, Laura S Pipkin, Celestine Tung, Tracilyn R Hall, Ramya P Masand, Matthew L Anderson
STUDY OBJECTIVE: Assess the potential role of peritoneal and omental biopsies in women undergoing risk-reducing salpingo-oopherectomy (RRSO) for prophylactic management of hereditary breast/ovarian cancer syndromes (HBOC). DESIGN: Retrospective observational cohort DESIGN: Classification: II.1 SETTING: Academic gynecology practice PATIENTS: All women who underwent RRSO for a high risk BRCA1/2 mutation or deletion at a single institution between January, 2003 and June, 2016...
March 8, 2017: Journal of Minimally Invasive Gynecology
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