keyword
MENU ▼
Read by QxMD icon Read
search

Brca1 and brca2

keyword
https://www.readbyqxmd.com/read/29777302/emerging-strategies-in-brca-positive-pancreatic-cancer
#1
REVIEW
Adam Kowalewski, Łukasz Szylberg, Michał Saganek, Wojciech Napiontek, Paulina Antosik, Dariusz Grzanka
PURPOSE: We propose a treatment algorithm for PDAC with particular emphasis on BRCA1 or 2 mutation-positive patients. Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest diseases in the United States and Europe. BRCA1 and BRCA2 are among the most common of the known genetic mutations involved in familial PDAC. The optimal chemotherapy regimen to use for BRCA1 or 2 mutation carriers with PDAC is not yet established. As new treatment options emerge, algorithms must balance the need to give the best drugs first with ensuring that there are still beneficial options available for later...
May 18, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29774471/age-at-first-full-term-birth-and-breast-cancer-risk-in-brca1-and-brca2-mutation-carriers
#2
Joanne Kotsopoulos, Jacek Gronwald, Henry T Lynch, Andrea Eisen, Susan L Neuhausen, Nadine Tung, Peter Ainsworth, Jeffrey N Weitzel, Tuya Pal, William D Foulkes, Charis Eng, Christian F Singer, Leigha Senter, Ping Sun, Jan Lubinski, Steven A Narod
PURPOSE: In the general population, an early age at first full-term birth confers protection against the risk of developing breast cancer. The relationship between age at first birth and breast cancer risk is not clear for women with a mutation in the BRCA1 or BRCA2 gene. Thus, we undertook a case-control study of women with a BRCA1 or BRCA2 mutation to study the effects of age at first full-term birth matched for other reproductive factors. METHODS: Information about reproductive factors, including age at first birth as well as medical history, was collected from a routinely administered research questionnaire...
May 17, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29774317/frequency-of-rearrangements-versus-small-indels-mutations-in-brca1-and-brca2-genes-in-turkish-patients-with-high-risk-breast-and-ovarian-cancer
#3
Hülya Yazıcı, Seda Kılıç, Demet Akdeniz, Özge Şükrüoğlu, Şeref Buğra Tuncer, Mukaddes Avşar, Gözde Kuru, Betül Çelik, Seden Küçücük, Pınar Saip
Objective: The current rearrangement ratio of BRCA1 and BRCA2 genes is not known in the Turkish population. Rearrangements are not routinely investigated in many Turkish laboratories. This creates problems and contradictions between clinics. Therefore, the aim of this study was to evaluate the distribution and frequency of rearrangements in BRCA1 and BRCA2 genes in high-risk families and to clarify the limits of BRCA1 and BRCA2 testing in Turkey. Materials and Methods: The study included 1809 patients at high risk of breast cancer or ovarian cancer...
April 2018: European Journal of Breast Health
https://www.readbyqxmd.com/read/29774201/investigation-of-experimental-factors-that-underlie-brca1-2-mrna-isoform-expression-variation-recommendations-for-utilizing-targeted-rna-sequencing-to-evaluate-potential-spliceogenic-variants
#4
Vanessa L Lattimore, John F Pearson, Margaret J Currie, Amanda B Spurdle, Bridget A Robinson, Logan C Walker
PCR-based RNA splicing assays are commonly used in diagnostic and research settings to assess the potential effects of variants of uncertain clinical significance in BRCA1 and BRCA2 . The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium completed a multicentre investigation to evaluate differences in assay design and the integrity of published data, raising a number of methodological questions associated with cell culture conditions and PCR-based protocols. We utilized targeted RNA-seq to re-assess BRCA1 and BRCA2 mRNA isoform expression patterns in lymphoblastoid cell lines (LCLs) previously used in the multicentre ENIGMA study...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29770616/prevalence-of-germline-brca-mutations-among-women-with-carcinoma-of-the-peritoneum-or-fallopian-tube
#5
Min Chul Choi, Jin Sik Bae, Sang Geun Jung, Hyun Park, Won Duk Joo, Seung Hun Song, Chan Lee, Ji Ho Kim, Ki Chan Lee, Sunghoon Lee, Je Ho Lee
OBJECTIVE: The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene panel. METHODS: Twenty-six patients diagnosed with either PC or FTC between January 2013 and December 2016 were recruited consecutively. Germline DNA was sequenced using a 6-gene next generation sequencing (NGS) panel following genetic counseling. Surgico-medical information was obtained from hospital records...
March 26, 2018: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/29753961/the-role-of-parp-inhibition-in-triple-negative-breast-cancer-unraveling-the-wide-spectrum-of-synthetic-lethality
#6
REVIEW
Marios Papadimitriou, Giannis Mountzios, Christos A Papadimitriou
Triple-negative breast cancer (TNBC) accounts for approximately 15-20% of all breast cancers and is characterized by a lack of immunohistochemical expression of estrogen receptors (ER), progesterone receptors (PR) and HER2. TNBC is associated with poor long-term outcomes compared with other breast cancer subtypes. Many of these tumors are also basal-like cancers which are characterized by an aggressive biological behavior with a distant recurrence peak observed early at 3 years following diagnosis. Furthermore, metastatic TNBC bears a dismal prognosis with an average survival of 12 months...
May 2, 2018: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/29752822/germline-mutations-in-40-cancer-susceptibility-genes-among-chinese-patients-with-high-hereditary-risk-breast-cancer
#7
Junyan Li, Ruilin Jing, Hongyi Wei, Minghao Wang, Xiaowei Qi, Haoxi Liu, Jian Liu, Jianghua Ou, Weihua Jiang, Fuguo Tian, Yuan Sheng, Hengyu Li, Hong Xu, Ruishan Zhang, Aihua Guan, Ke Liu, Hongchuan Jiang, Yu Ren, Jianjun He, Weiwei Huang, Ning Liao, Xiangjun Cai, Jia Ming, Rui Ling, Yan Xu, Chunyan Hu, Jianguo Zhang, Baoliang Guo, Lizhi Ouyang, Ping Shuai, Zhenzhen Liu, Ling Zhong, Zhen Zeng, Ting Zhang, Zhaoling Xuan, Xuanni Tan, Junbin Liang, Qinwen Pan, Li Chen, Fan Zhang, Linjun Fan, Yi Zhang, Xinhua Yang, Jingbo Li, Chongjian Chen, Jun Jiang
Multigene panel testing of breast cancer predisposition genes have been extensively conducted in Europe and America, which is relatively rare in Asia however. In this study, we assessed the frequency of germline mutations in 40 cancer predisposition genes, including BRCA1 and BRCA2, among a large cohort of Chinese patients with high hereditary risk of BC. From 2015 to 2016, consecutive BC patients from 26 centers of China with high hereditary risk were recruited (n=937). Clinical information was collected and next-generation sequencing (NGS) was performed using blood samples of participants to identify germline mutations...
May 12, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29752676/patients-views-of-treatment-focused-genetic-testing-tfgt-some-lessons-for-the-mainstreaming-of-brca1-and-brca2-testing
#8
Sarah Wright, Mary Porteous, Diane Stirling, Julia Lawton, Oliver Young, Charlie Gourley, Nina Hallowell
This paper explores patients' views and experiences of undergoing treatment-focused BRCA1 and BRCA2 genetic testing (TFGT), either offered following triaging to clinical genetics (breast cancer) or as part of a mainstreamed care pathway in oncology (ovarian cancer). Drawing on 26 in-depth interviews with patients with breast or ovarian cancer who had undergone TFGT, this retrospective study examines patients' views of genetic testing at this point in their care pathway, focusing on issues, such as initial response to the offer of testing, motivations for undergoing testing, and views on care pathways...
May 11, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29750819/correction-brca1-and-brca2-mutational-profile-and-prevalence-in-hereditary-breast-and-ovarian-cancer-hboc-probands-from-southern-brazil-are-international-testing-criteria-appropriate-for-this-specific-population
#9
Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla
[This corrects the article DOI: 10.1371/journal.pone.0187630.].
2018: PloS One
https://www.readbyqxmd.com/read/29750258/novel-diagnostic-tool-for-prediction-of-variant-spliceogenicity-derived-from-a-set-of-395-combined-in-silico-in-vitro-studies-an-international-collaborative-effort
#10
Raphaël Leman, Pascaline Gaildrat, Gérald L Gac, Chandran Ka, Yann Fichou, Marie-Pierre Audrezet, Virginie Caux-Moncoutier, Sandrine M Caputo, Nadia Boutry-Kryza, Mélanie Léone, Sylvie Mazoyer, Françoise Bonnet-Dorion, Nicolas Sevenet, Marine Guillaud-Bataille, Etienne Rouleau, Brigitte Bressac-de Paillerets, Barbara Wappenschmidt, Maria Rossing, Danielle Muller, Violaine Bourdon, Françoise Revillon, Michael T Parsons, Antoine Rousselin, Grégoire Davy, Gaia Castelain, Laurent Castéra, Joanna Sokolowska, Florence Coulet, Capucine Delnatte, Claude Férec, Amanda B Spurdle, Alexandra Martins, Sophie Krieger, Claude Houdayer
Variant interpretation is the key issue in molecular diagnosis. Spliceogenic variants exemplify this issue as each nucleotide variant can be deleterious via disruption or creation of splice site consensus sequences. Consequently, reliable in silico prediction of variant spliceogenicity would be a major improvement. Thanks to an international effort, a set of 395 variants studied at the mRNA level and occurring in 5' and 3' consensus regions (defined as the 11 and 14 bases surrounding the exon/intron junction, respectively) was collected for 11 different genes, including BRCA1, BRCA2, CFTR and RHD, and used to train and validate a new prediction protocol named Splicing Prediction in Consensus Elements (SPiCE)...
May 10, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29747489/different-patterns-of-risk-reducing-decisions-in-affected-or-unaffected-brca-pathogenic-variant-carriers
#11
Eun-Gyeong Lee, Hyok Jo Kang, Myong Cheol Lim, Boyoung Park, Soo Jin Park, So-Youn Jung, Seeyoun Lee, Han-Sung Kang, Sang-Yoon Park, Boram Park, Jungnam Joo, Jai Hong Han, Sun-Young Kong, Eun Sook Lee
Purpose: The purpose of this study was to investigate decision patterns to reduce the risks of BRCA-related breast and gynecologic cancers in carriers of BRCA pathogenic variants. We found a change in risk-reducing (RR) management patterns after December 2012, when the National Health Insurance System (NHIS) of Korea began to pay for BRCA testing and risk-reducing salpingo-oophorectomy (RRSO) in pathogenic-variant carriers. Materials and Methods: The study group consisted of 992 patients, including 705 with breast cancer (BC), 23 with ovarian cancer (OC), 10 with both, and 254 relatives of high-risk patients who underwent BRCA testing at the National Cancer Center of Korea from January 2008 to December 2016...
May 4, 2018: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/29739757/evidence-of-inter-tissue-differences-in-the-dna-damage-response-and-the-pro-oncogenic-role-of-nf%C3%AE%C2%BAb-in-mice-with-disengaged-brca1-palb2-interaction
#12
Amar Hekmat Mahdi, Yanying Huo, Yongmei Tan, Srilatha Simhadri, Gabriele Vincelli, Jie Gao, Shridar Ganesan, Bing Xia
The BRCA1-PALB2-BRCA2 axis plays an essential role in DNA homologous recombination repair (HRR), defect in which drives genome instability and cancer development. How cells with defects in this pathway respond to DNA damage in vivo and how tumors develop from these cells remain poorly defined. Here we analyzed several aspects of the DNA damage response in multiple tissues of Palb2 mutant mice in which the interaction between PALB2 and BRCA1 is disengaged. Without any challenge, the mutant mice showed increased endogenous DNA damage...
May 8, 2018: Cancer Research
https://www.readbyqxmd.com/read/29736741/homologous-recombination-deficiency-and-host-anti-tumor-immunity-in-triple-negative-breast-cancer
#13
REVIEW
M L Telli, D G Stover, S Loi, S Aparicio, L A Carey, S M Domchek, L Newman, G W Sledge, E P Winer
PURPOSE: Triple-negative breast cancer (TNBC) is associated with worse outcomes relative to other breast cancer subtypes. Chemotherapy remains the standard-of-care systemic therapy for patients with localized or metastatic disease, with few biomarkers to guide benefit. METHODS: We will discuss recent advances in our understanding of two key biological processes in TNBC, homologous recombination (HR) DNA repair deficiency and host anti-tumor immunity, and their intersection...
May 7, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29735278/bilateral-salpingectomy-with-delayed-oophorectomy-for-ovarian-cancer-risk-reduction-a-pilot-study-in-women-with-brca1-2-mutations
#14
Denise R Nebgen, Jean Hurteau, Laura L Holman, Andrea Bradford, Mark F Munsell, Beth R Soletsky, Charlotte C Sun, Gary B Chisholm, Karen H Lu
OBJECTIVE: Risk-reducing salpingo-oophorectomy (RRSO) reduces ovarian cancer risk in BRCA1/2 mutation carriers, but the adverse effects of the associated early-onset surgical menopause are problematic. Despite suggestive evidence, no data demonstrate whether bilateral salpingectomy alone lowers the risk of developing ovarian cancer in BRCA mutation carriers. We conducted a pilot study of bilateral salpingectomy with delayed oophorectomy (BS/DO) in BRCA mutation carriers to determine the safety and acceptability of the procedure...
May 4, 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29731985/association-between-homologous-recombination-repair-gene-mutations-and-response-to-oxaliplatin-in-pancreatic-cancer
#15
Tomohiro Kondo, Masashi Kanai, Tadayuki Kou, Tomohiro Sakuma, Hiroaki Mochizuki, Mayumi Kamada, Masahiko Nakatsui, Norimitsu Uza, Yuzo Kodama, Toshihiko Masui, Kyoichi Takaori, Shigemi Matsumoto, Hidehiko Miyake, Yasushi Okuno, Manabu Muto
Objectives: We aimed to examine the association between homologous recombination repair (HRR)-related gene mutations and efficacy of oxaliplatin-based chemotherapy in patients with pancreatic ductal adenocarcinoma (PDAC). Results: Non-synonymous mutations in HRR-related genes were found in 13 patients and only one patient had a family history of pancreatic cancer. Eight patients with HRR-related gene mutations (group A) and nine without HRR-related gene mutations (group B) received oxaliplatin-based chemotherapy...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29729664/complete-response-to-orally-administered-melphalan-in-malignant-pleural-effusion-from-an-occult-female-genital-organ-primary-neoplasm-with-brca1-2-mutations-a-case-report
#16
Frank S Fan, Chung-Fan Yang
BACKGROUND: Definite diagnosis of metastasis from unknown primary depends on a comprehensive immunohistochemical investigation of tumor specimen. Accurate identification of the origin site usually helps a lot in choosing the most appropriate treatment. Molecular characterization provides more chance of a cure. Echoing modern medical development, BRCA1/2 mutations have been correlated with high efficiency of poly(adenosine diphosphate-ribose) polymerase inhibitors in ovarian cancer. While a previous case report demonstrated a surprising cure of platinum-resistant ovarian cancer with BRCA2 mutation by orally administered melphalan...
May 6, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29727326/prognostic-impact-of-breast-conserving-therapy-versus-mastectomy-of-brca1-2-mutation-carriers-compared-with-noncarriers-in-a-consecutive-series-of-young-breast-cancer-patients
#17
Alexandra J van den Broek, Marjanka K Schmidt, Laura J van 't Veer, Hester S A Oldenburg, Emiel J Rutgers, Nicola S Russell, Vincent T H B M Smit, Adri C Voogd, Linetta B Koppert, Sabine Siesling, Jan J Jobsen, Pieter J Westenend, Flora E van Leeuwen, Rob A E M Tollenaar
OBJECTIVE: To investigate the effects of different types of surgery on breast cancer prognosis in germline BRCA1/BRCA2 mutation carriers compared with noncarriers. SUMMARY OF BACKGROUND DATA: Although breast-conserving therapy (breast-conserving surgery followed by radiotherapy) has been associated with more local recurrences than mastectomy, no differences in overall survival have been found in randomized trials performed in the general breast cancer population...
May 1, 2018: Annals of Surgery
https://www.readbyqxmd.com/read/29725888/brca-mutations-and-their-influence-on-pathological-complete-response-and-prognosis-in-a-clinical-cohort-of-neoadjuvantly-treated-breast-cancer-patients
#18
Marius Wunderle, Paul Gass, Lothar Häberle, Vivien M Flesch, Claudia Rauh, Mayada R Bani, Carolin C Hack, Michael G Schrauder, Sebastian M Jud, Julius Emons, Ramona Erber, Arif B Ekici, Juliane Hoyer, Georgia Vasileiou, Cornelia Kraus, Andre Reis, Arndt Hartmann, Michael P Lux, Matthias W Beckmann, Peter A Fasching, Alexander Hein
PURPOSE: BRCA1/2 mutations influence the molecular characteristics and the effects of systemic treatment of breast cancer. This study investigates the impact of germline BRCA1/2 mutations on pathological complete response and prognosis in patients receiving neoadjuvant systemic chemotherapy. METHODS: Breast cancer patients were tested for a BRCA1/2 mutation in clinical routine work and were treated with anthracycline-based or platinum-based neoadjuvant chemotherapy between 1997 and 2015...
May 3, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29725535/defects-in-homologous-recombination-repair-genes-are-associated-with-good-prognosis-and-clinical-sensitivity-to-dna-damaging-agents-in-pancreatic-cancer-a-case-report
#19
Amir Sonnenblick, Aviad Zick, Myriam Maoz, Sherri Cohen, Luna Kadouri, Tamar Peretz, Ayala Hubert
Tumor genome sequencing is important for increasing our understanding of the development of cancer, which may be affected by different therapies. In the present study, genomic evolution was investigated in a patient with stage IV pancreatic cancer bearing a germline breast cancer 2 ( BRCA2 ) mutation. The patient received cisplatin, a DNA cross-linking agent, which led to a long-lasting complete response. Eventually the patient developed brain metastasis, suggesting the acquisition of resistance to cisplatin...
May 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29723101/breast-cancer-in-an-18-year-old-female-a-fatal-case-report-and-literature-review
#20
Maciej Jóźwik, Renata Posmyk, Marcin Jóźwik, Andrzej Semczuk, Magdalena Gogiel-Shields, Marta Kuś-Słowińska, Magdalena Garbowicz, Mark Klukowski, Jacek Wojciechowicz
Breast cancer (BC) is the most frequent malignancy in both pre- and postmenopausal women. However, it is exceedingly rare in very young patients, and especially in adolescents. Herein, we report a case of an 18-year-old female diagnosed with invasive BC. The proband had been found to be negative for BC in close family members. A common BC genetic screening test for the Polish population did not detect any known founder mutations in the BRCA1 gene. Further evaluation identified a p.Ile157Thr (I157T) mutation in the CHEK2 gene, a p...
May 3, 2018: Cancer Biology & Therapy
keyword
keyword
9786
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"