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https://www.readbyqxmd.com/read/29625052/pathogenic-germline-variants-in-10-389-adult-cancers
#1
Kuan-Lin Huang, R Jay Mashl, Yige Wu, Deborah I Ritter, Jiayin Wang, Clara Oh, Marta Paczkowska, Sheila Reynolds, Matthew A Wyczalkowski, Ninad Oak, Adam D Scott, Michal Krassowski, Andrew D Cherniack, Kathleen E Houlahan, Reyka Jayasinghe, Liang-Bo Wang, Daniel Cui Zhou, Di Liu, Song Cao, Young Won Kim, Amanda Koire, Joshua F McMichael, Vishwanathan Hucthagowder, Tae-Beom Kim, Abigail Hahn, Chen Wang, Michael D McLellan, Fahd Al-Mulla, Kimberly J Johnson, Olivier Lichtarge, Paul C Boutros, Benjamin Raphael, Alexander J Lazar, Wei Zhang, Michael C Wendl, Ramaswamy Govindan, Sanjay Jain, David Wheeler, Shashikant Kulkarni, John F Dipersio, Jüri Reimand, Funda Meric-Bernstam, Ken Chen, Ilya Shmulevich, Sharon E Plon, Feng Chen, Li Ding
We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including ATM, BRCA1, and NF1, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events...
April 5, 2018: Cell
https://www.readbyqxmd.com/read/29620998/breast-cancer-family-history-and-contralateral-breast-cancer-risk-in-young-women-an-update-from-the-women-s-environmental-cancer-and-radiation-epidemiology-study
#2
Anne S Reiner, Julia Sisti, Esther M John, Charles F Lynch, Jennifer D Brooks, Lene Mellemkjær, John D Boice, Julia A Knight, Patrick Concannon, Marinela Capanu, Marc Tischkowitz, Mark Robson, Xiaolin Liang, Meghan Woods, David V Conti, David Duggan, Roy Shore, Daniel O Stram, Duncan C Thomas, Kathleen E Malone, Leslie Bernstein, Jonine L Bernstein
Purpose The Women's Environmental Cancer and Radiation Epidemiology (WECARE) study demonstrated the importance of breast cancer family history on contralateral breast cancer (CBC) risk, even for noncarriers of deleterious BRCA1/2 mutations. With the completion of WECARE II, updated risk estimates are reported. Additional analyses that exclude women negative for deleterious mutations in ATM, CHEK2*1100delC, and PALB2 were performed. Patients and Methods The WECARE Study is a population-based case-control study that compared 1,521 CBC cases with 2,212 individually matched unilateral breast cancer (UBC) controls...
April 5, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29522266/gene-panel-testing-of-5589-brca1-2-negative-index-patients-with-breast-cancer-in-a-routine-diagnostic-setting-results-of-the-german-consortium-for-hereditary-breast-and-ovarian-cancer
#3
Jan Hauke, Judit Horvath, Eva Groß, Andrea Gehrig, Ellen Honisch, Karl Hackmann, Gunnar Schmidt, Norbert Arnold, Ulrike Faust, Christian Sutter, Julia Hentschel, Shan Wang-Gohrke, Mateja Smogavec, Bernhard H F Weber, Nana Weber-Lassalle, Konstantin Weber-Lassalle, Julika Borde, Corinna Ernst, Janine Altmüller, Alexander E Volk, Holger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, Natalie Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Ruckert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K Schmutzler, Eric Hahnen
The prevalence of germ line mutations in non-BRCA1/2 genes associated with hereditary breast cancer (BC) is low, and the role of some of these genes in BC predisposition and pathogenesis is conflicting. In this study, 5589 consecutive BC index patients negative for pathogenic BRCA1/2 mutations and 2189 female controls were screened for germ line mutations in eight cancer predisposition genes (ATM, CDH1, CHEK2, NBN, PALB2, RAD51C, RAD51D, and TP53). All patients met the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for germ line testing...
March 9, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29506128/prospective-evaluation-of-germline-alterations-in-patients-with-exocrine-pancreatic-neoplasms
#4
Maeve A Lowery, Winston Wong, Emmet J Jordan, Jonathan W Lee, Yelena Kemel, Joseph Vijai, Diana Mandelker, Ahmet Zehir, Marinela Capanu, Erin Salo-Mullen, Angela G Arnold, Kenneth H Yu, Anna M Varghese, David P Kelsen, Robin Brenner, Erica Kaufmann, Vignesh Ravichandran, Semanti Mukherjee, Michael F Berger, David M Hyman, David S Klimstra, Ghassan K Abou-Alfa, Catherine Tjan, Christina Covington, Hannah Maynard, Peter J Allen, Gokce Askan, Steven D Leach, Christine A Iacobuzio-Donahue, Mark E Robson, Kenneth Offit, Zsofia K Stadler, Eileen M O'Reilly
Background: Identification of pathogenic germline alterations (PGAs) has important clinical and therapeutic implications in pancreas cancer. We performed comprehensive germline testing (GT) in an unselected prospective cohort of patients with exocrine pancreatic neoplasms with genotype and phenotype association to facilitate identification of prognostic and/or predictive biomarkers and examine potential therapeutic implications. Methods: Six hundred fifteen unselected patients with exocrine pancreatic neoplasms were prospectively consented for somatic tumor and matched sample profiling for 410-468 genes...
February 28, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29486991/characteristics-of-african-american-women-at-high-risk-for-ovarian-cancer-in-the-southeast-results-from-a-gynecologic-cancer-risk-assessment-clinic
#5
David A Barrington, Macie L Champion, Teresa K L Boitano, Christen L Walters-Haygood, Meagan B Farmer, Ronald D Alvarez, Jacob M Estes, Charles A Leath
OBJECTIVES: Describe patient characteristics in African American (AA) women seen for gynecologic cancer related genetic counseling at a large southeastern comprehensive cancer center. METHODS: We reviewed an IRB approved, prospective observational cohort of patients from a Gynecologic Cancer Risk Assessment Clinic. Data evaluated included personal cancer history, family history, frequency of genetic testing, frequency/type of genetic mutations, and frequency of surgical intervention...
February 24, 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29484706/identification-of-a-novel-truncating-mutation-in-palb2-gene-by-a-multigene-sequencing-panel-for-mutational-screening-of-breast-cancer-risk-associated-and-related-genes
#6
Anna Guacci, Angela Cordella, Teresa Rocco, Giorgio Giurato, Giovanni Nassa, Francesca Rizzo, Chiara Carlomagno, Stefano Pepe, Roberta Tarallo, Alessandro Weisz
BACKGROUND: Breast cancer (BC) is the most common neoplasm in women, with 5%-10% patients showing a familial predisposition, where germline mutations in BRCA1/BRCA2 genes are found in -20% of cases. Next-generation sequencing (NGS) is among the best available options for genetic screening, providing several benefits that include enhanced sensitivity and unbiased mutation detection. PALB2 (partner and localizer of BRCA2) is a cancer predisposing gene recently described that encodes a protein partner of BRCA2 involved in DNA double-strand break repair and cell cycle control...
February 27, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29478780/inherited-dna-repair-defects-in-colorectal-cancer
#7
Saud H AlDubayan, Marios Giannakis, Nathanael D Moore, G Celine Han, Brendan Reardon, Tsuyoshi Hamada, Xinmeng Jasmine Mu, Reiko Nishihara, Zhirong Qian, Li Liu, Matthew B Yurgelun, Sapna Syngal, Levi A Garraway, Shuji Ogino, Charles S Fuchs, Eliezer M Van Allen
Colorectal cancer (CRC) heritability has been estimated to be around 30%. However, mutations in the known CRC-susceptibility genes explain CRC risk in fewer than 10% of affected individuals. Germline mutations in DNA-repair genes (DRGs) have recently been reported in CRC, but their contribution to CRC risk is largely unknown. We evaluated the gene-level germline mutation enrichment of 40 DRGs in 680 unselected CRC individuals and 27,728 ancestry-matched cancer-free adults. Significant findings were then examined in independent cohorts of 1,661 unselected CRC individuals and 1,456 individuals with early-onset CRC...
February 21, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29470806/screening-of-over-1000-indian-patients-with-breast-and-or-ovarian-cancer-with-a-multi-gene-panel-prevalence-of-brca1-2-and-non-brca-mutations
#8
Jaya Singh, Nishita Thota, Suhasini Singh, Shila Padhi, Puja Mohan, Shivani Deshwal, Soumit Sur, Mithua Ghosh, Amit Agarwal, Ramesh Sarin, Rosina Ahmed, Sachin Almel, Basumita Chakraborti, Vinod Raina, Praveen K DadiReddy, B K Smruti, Senthil Rajappa, Chandragouda Dodagoudar, Shyam Aggarwal, Manish Singhal, Ashish Joshi, Rajeev Kumar, Ajai Kumar, Deepak K Mishra, Neeraj Arora, Aarati Karaba, Satish Sankaran, Shanmukh Katragadda, Arunabha Ghosh, Vamsi Veeramachaneni, Ramesh Hariharan, Ashraf U Mannan
PURPOSE: Breast and/or ovarian cancers are among the most common cancers in women across the world. In the Indian population, the healthcare burden of breast and/or ovarian cancers has been steadily rising, thus stressing the need for early detection, surveillance, and disease management measures. However, the burden attributable to inherited mutations is not well characterized. METHODS: We sequenced 1010 unrelated patients and families from across India with an indication of breast and/or ovarian cancers, using the TruSight Cancer panel which includes 14 genes, strongly associated with risk of hereditary breast and/or ovarian cancers...
February 22, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29431189/molecular-analysis-of-palb2-associated-breast-cancers
#9
Jue Er Amanda Lee, Na Li, Simone M Rowley, Dane Cheasley, Magnus Zethoven, Simone McInerny, Kylie L Gorringe, Paul A James, Ian G Campbell
PALB2 is established as the most clinically important moderate to high penetrance breast cancer predisposition gene after BRCA1 and BRCA2. Mutations in classical familial cancer predisposition genes are presumed to be recessive at the cellular level and therefore a second inactivating somatic mutation is required in the tumour tissue. However, from the limited data that exists, PALB2 may be an example of a cancer predisposition gene that does not conform to Knudsen's "two hit" paradigm. We conducted genome-wide copy number analysis and targeted sequencing of PALB2 and other breast cancer driver genes in 15 invasive breast cancers from individuals carrying pathogenic germline mutations in PALB2...
February 12, 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29426838/gene-specific-genetic-complementation-between-brca1-and-cobra1-during-mouse-mammary-gland-development
#10
Huai-Chin Chiang, Xiaowen Zhang, Xiayan Zhao, Chi Zhang, Jerry Chen, Paula Garza, Sabrina Smith, Thomas Ludwig, Richard J Baer, Rong Li, Yanfen Hu
Germ-line mutations in breast cancer susceptibility gene, BRCA1, result in familial predisposition to breast and ovarian cancers. The BRCA1 protein has multiple functional domains that interact with a variety of proteins in multiple cellular processes. Understanding the biological consequences of BRCA1 interactions with its binding partners is important for elucidating its tissue-specific tumor suppression function. The Cofactor of BRCA1 (COBRA1) is a BRCA1-binding protein that, as a component of negative elongation factor (NELF), regulates RNA polymerase II pausing during transcription elongation...
February 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29422015/is-rnasel-p-glu265-a-modifier-of-early-onset-breast-cancer-risk-for-carriers-of-high-risk-mutations
#11
Tú Nguyen-Dumont, Zhi L Teo, Fleur Hammet, Alexis Roberge, Maryam Mahmoodi, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Andrew Lonie, Miroslav K Kapuscinski, Khalid Mahmood, David E Goldgar, Graham G Giles, Ingrid Winship, John L Hopper, Melissa C Southey
BACKGROUND: Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in families, including genetic modifiers of risk. We considered genetic modifiers of risk for carriers of high-risk mutations in other breast cancer susceptibility genes. METHODS: In a family known to carry the high-risk mutation PALB2:c.3113G>A (p.Trp1038*), whole-exome sequencing was performed on germline DNA from four affected women, three of whom were mutation carriers...
February 8, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29387975/a-comprehensive-analysis-of-brca2-gene-focus-on-mechanistic-aspects-of-its-functions-spectrum-of-deleterious-mutations-and-therapeutic-strategies-targeting-brca2-deficient-tumors
#12
Anjali Shailani, Raman Preet Kaur, Anjana Munshi
BRCA2is the main susceptibility gene known to be involved in the pathogenesis of breast cancer. It plays an important role in maintaining the genome stability by homologous recombination through DNA double-strand breaks repairing, by interacting with various other proteins including RAD51, DSS1, RPA, MRE11, PALB2, and p53. BRCA2-deficient cells show the abnormalities of chromosome number. BRCA2 is also found to be involved in centrosome duplication specifically in the metaphase to anaphase transition. Inactivation or depletion of BRCA2 leads to centrosome amplification that results in unequal separation of chromosomes...
January 31, 2018: Medical Oncology
https://www.readbyqxmd.com/read/29361001/cost-effectiveness-of-population-based-brca1-brca2-rad51c-rad51d-brip1-palb2-mutation-testing-in-unselected-general-population-women
#13
Ranjit Manchanda, Shreeya Patel, Vladimir S Gordeev, Antonis C Antoniou, Shantel Smith, Andrew Lee, John L Hopper, Robert J MacInnis, Clare Turnbull, Susan J Ramus, Simon A Gayther, Paul D P Pharoah, Usha Menon, Ian Jacobs, Rosa Legood
Background: The cost-effectiveness of population-based panel testing for high- and moderate-penetrance ovarian cancer (OC)/breast cancer (BC) gene mutations is unknown. We evaluate the cost-effectiveness of population-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 mutation testing compared with clinical criteria/family history (FH) testing in unselected general population women. Methods: A decision-analytic model comparing lifetime costs and effects of criteria/FH-based BRCA1/BRCA2 testing is compared with BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing in those fulfilling clinical criteria/strong FH of cancer (≥10% BRCA1/BRCA2 probability) and all women age 30 years or older...
January 18, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29360614/impact-of-multigene-panel-testing-on-surgical-decision-making-in-breast-cancer-patients
#14
Holly J Pederson, Dharmesh Gopalakrishnan, Ryan Noss, Courtney Yanda, Charis Eng, Stephen R Grobmyer
BACKGROUND: With the advent of multigene panel testing for breast cancer patients, germline mutations with unknown association with cancer risk, known as variants of uncertain significance (VUS), are being increasingly identified. Some studies have shown higher rates of contralateral prophylactic mastectomies (CPM) in these patients, despite lack of evidence to support this intervention. We analyzed surgical choices in patients who were identified to have VUS. STUDY DESIGN: A retrospective review was performed of patients with triple-negative breast cancer treated at a single institution after multigene panel tests became available (September 1, 2013 to February 28, 2017)...
April 2018: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/29338689/variants-of-cancer-susceptibility-genes-in-korean-brca1-2-mutation-negative-patients-with-high-risk-for-hereditary-breast-cancer
#15
Ji Soo Park, Seung-Tae Lee, Eun Ji Nam, Jung Woo Han, Jung-Yun Lee, Jieun Kim, Tae Il Kim, Hyung Seok Park
BACKGROUND: We evaluated the incidence and spectrum of pathogenic and likely pathogenic variants of cancer susceptibility genes in BRCA1/2 mutation-negative Korean patients with a high risk for hereditary breast cancer using a comprehensive multigene panel that included 35 cancer susceptibility genes. METHODS: Samples from 120 patients who were negative for BRCA1/2 mutations, but had been diagnosed with breast cancer that was likely hereditary, were prospectively evaluated for the prevalence of high-penetrance and moderate-penetrance germline mutations...
January 16, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29325031/use-of-deep-whole-genome-sequencing-data-to-identify-structure-risk-variants-in-breast-cancer-susceptibility-genes
#16
Xingyi Guo, Jiajun Shi, Qiuyin Cai, Xiao-Ou Shu, Jing He, Wanqing Wen, Jamie Allen, Paul Pharoah, Alison Dunning, David J Hunter, Peter Kraft, Douglas F Easton, Wei Zheng, Jirong Long
Functional disruptions of susceptibility genes by large genomic structure variant (SV) deletions in germlines are known to be associated with cancer risk. However, few studies have been conducted to systematically search for SV deletions in breast cancer susceptibility genes. We analysed deep (> 30x) whole-genome sequencing (WGS) data generated in blood samples from 128 breast cancer patients of Asian and European descent with either a strong family history of breast cancer or early cancer onset disease...
March 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29321957/high-expression-of-palb2-predicts-poor-prognosis-in-patients-with-advanced-breast-cancer
#17
Jingquan Li, Mian Li, Peizhan Chen, Qian Ba
PALB2 mutation is associated with increased breast cancer risk; however, PALB2 mutation is rare in sporadic breast cancer cases and little is known about PALB2 expression in breast cancer. Here, we evaluated the prognostic effects of PALB2 with tissue microarray specimens of 117 female breast cancer patients, and determined the potential underlying mechanisms in cell models. In immunohistochemical analysis, we found increased expression of PALB2 in breast cancer tissues compared with the adjacent normal ductal epithelium ( P < 0...
January 2018: FEBS Open Bio
https://www.readbyqxmd.com/read/29279706/metachronous-and-synchronous-occurrence-of-5-primary-malignancies-in-a-female-patient-between-1997-and-2013-a-case-report-with-germline-and-somatic-genetic-analysis
#18
Jenny Nyqvist, Fredrik Persson, Toshima Z Parris, Khalil Helou, Elisabeth Kenne Sarenmalm, Zakaria Einbeigi, Åke Borg, Per Karlsson, Anikó Kovács
The number of patients with multiple primary malignancies has been increasing steadily in recent years. In the present study, we describe a unique case of an 81-year-old woman with 5 metachronous and synchronous primary malignant neoplasms. The patient was first diagnosed with an endometrium adenocarcinoma in 1997 and a colon adenocarcinoma in 2002. Eleven years after her colon surgery, in 2013, the patient presented with 3 other primary malignancies within a 4-month time span: an invasive malignant melanoma on the lower leg, an invasive mucinous breast carcinoma in the right breast, and a pleomorphic spindle cell sarcoma on the left upper arm...
September 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/29223478/phase-ii-trial-of-veliparib-in-patients-with-previously-treated-brca-mutated-pancreas-ductal-adenocarcinoma
#19
Maeve A Lowery, David P Kelsen, Marinela Capanu, Sloane C Smith, Jonathan W Lee, Zsofia K Stadler, Malcolm J Moore, Hedy L Kindler, Talia Golan, Amiel Segal, Hannah Maynard, Ellen Hollywood, MaryEllen Moynahan, Erin E Salo-Mullen, Richard Kinh Gian Do, Alice P Chen, Kenneth H Yu, Laura H Tang, Eileen M O'Reilly
PURPOSE: BRCA-associated cancers have increased sensitivity to poly(ADP-ribose) polymerase inhibitors (PARPis). This single arm, non-randomised, multicentre phase II trial evaluated the response rate of veliparib in patients with previously treated BRCA1/2- or PALB2-mutant pancreatic adenocarcinoma (PDAC). METHODS: Patients with stage III/IV PDAC and known germline BRCA1/2 or PALB2 mutation, 1-2 lines of treatment, Eastern Cooperative Oncology Group 0-2, were enrolled...
January 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/29190888/genomic-profiles-of-a-hepatoblastoma-from-a-patient-with-beckwith-wiedemann-syndrome-with-uniparental-disomy-on-chromosome-11p15-and-germline-mutation-of-apc-and-palb2
#20
Shinn Young Kim, Seung-Hyun Jung, Min Sung Kim, Mi-Ryung Han, Hyeon-Chun Park, Eun Sun Jung, Sung Hak Lee, Sug Hyung Lee, Yeun-Jun Chung
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder mainly associated with altered genomic imprinting at chromosome 11p15.5. Children with BWS, especially uniparental disomy (UPD) at 11p15.5, are at increased risk of embryonal tumors including hepatoblastoma. Although genetic alterations of sporadic hepatoblastomas have been identified, integrated germline and somatic alterations of BWS-related hepatoblastoma have not been reported. For this, we performed whole-exome sequencing and genome-wide loss of heterozygosity/copy number analyses using a single nucleotide polymorphism (SNP) array for a hepatoblastoma in a BWS infant with paternal UPD at chromosome 11p15...
November 3, 2017: Oncotarget
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