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https://www.readbyqxmd.com/read/27924011/roles-for-aprin-pds5b-in-homologous-recombination-and-in-ovarian-cancer-prediction
#1
Anthony M Couturier, Hubert Fleury, Anne-Marie Patenaude, Victoria L Bentley, Amélie Rodrigue, Yan Coulombe, Joshi Niraj, Joris Pauty, Jason N Berman, Graham Dellaire, Javier M Di Noia, Anne-Marie Mes-Masson, Jean-Yves Masson
APRIN (PDS5 cohesin associated factor B) interacts with both the cohesin complex and the BRCA2 tumor suppressor. How APRIN influences cohesion and DNA repair processes is not well understood. Here, we show that APRIN is recruited to DNA damage sites. We find that APRIN interacts directly with RAD51, PALB2 and BRCA2. APRIN stimulates RAD51-mediated DNA strand invasion. APRIN also binds DNA with an affinity for D-loop structures and single-strand (ss) DNA. APRIN is a new homologous recombination (HR) mediator as it counteracts the RPA inhibitory effect on RAD51 loading to ssDNA...
October 24, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27902704/methylation-of-breast-cancer-predisposition-genes-in-early-onset-breast-cancer-australian-breast-cancer-family-registry
#2
Cameron M Scott, JiHoon Eric Joo, Neil O'Callaghan, Daniel D Buchanan, Mark Clendenning, Graham G Giles, John L Hopper, Ee Ming Wong, Melissa C Southey
DNA methylation can mimic the effects of both germline and somatic mutations for cancer predisposition genes such as BRCA1 and p16INK4a. Constitutional DNA methylation of the BRCA1 promoter has been well described and is associated with an increased risk of early-onset breast cancers that have BRCA1-mutation associated histological features. The role of methylation in the context of other breast cancer predisposition genes has been less well studied and often with conflicting or ambiguous outcomes. We examined the role of methylation in known breast cancer susceptibility genes in breast cancer predisposition and tumor development...
2016: PloS One
https://www.readbyqxmd.com/read/27878467/outcomes-of-retesting-brca-negative-patients-using-multigene-panels
#3
Siddhartha Yadav, Ashley Reeves, Sarah Campian, Amy Paine, Dana Zakalik
The utility of multigene panels in retesting patients who previously tested negative for a pathogenic mutation by BRCA1/2 testing is not well established. Patients who previously tested negative for a pathogenic BRCA1/2 mutation by standard sequencing, and who were seen in cancer genetics center between November 1, 2012 and June 30, 2015 for additional testing utilizing multigene panels, were identified using our genetic testing registry. Data on demographics, personal and family history of cancer, results of panel testing and the impact on patient management was collected retrospectively...
November 22, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27803004/mismatch-repair-deficient-metastatic-pancreatic-ductal-adenocarcinoma-with-a-germline-palb2-mutation-unusual-genetics-unusual-clinical-course
#4
Stefan Boeck, Yasmin Mehraein, Steffen Ormanns, Stephan Kruger, C Benedikt Westphalen, Michael Haas, Andreas Jung, Thomas Kirchner, Volker Heinemann
No abstract text is available yet for this article.
November 1, 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/27798748/revisiting-breast-cancer-patients-who-previously-tested-negative-for-brca-mutations-using-a-12-gene-panel
#5
Olivia Moran, Dina Nikitina, Robert Royer, Aletta Poll, Kelly Metcalfe, Steven A Narod, Mohammad R Akbari, Joanne Kotsopoulos
PURPOSE: BRCA mutations contribute to about 20% of all hereditary breast cancers. With full-genome sequencing as the emerging standard for genetic testing, other breast cancer susceptibility genes have been identified and may collectively contribute to up to 30% of all hereditary breast cancers. We re-assessed women who had previously tested negative for a BRCA mutation when outdated techniques were used, and discuss the implications of identifying a mutation several years after initial genetic testing...
October 31, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27783279/frequency-of-pathogenic-germline-mutation-in-chek2-palb2-mre11-and-rad50-in-patients-at-high-risk-for-hereditary-breast-cancer
#6
Haeyoung Kim, Dae-Yeon Cho, Doo Ho Choi, Mijin Oh, Inkyung Shin, Won Park, Seung Jae Huh, Seok Jin Nam, Jeong Eon Lee, Seok Won Kim
PURPOSE: This study was performed to evaluate the frequency of mutations in CHEK2, PALB2, MRE11, and RAD50 among Korean patients at high risk for hereditary breast cancer. METHODS: A total of 235 Korean patients with hereditary breast cancer who tested negative for BRCA1/2 mutation were enrolled to this study. Entire coding regions of CHEK2, PALB2, MRE11, and RAD50 were analyzed using massively parallel sequencing (MPS). Sequence variants detected by MPS were confirmed by Sanger sequencing...
October 25, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27779110/the-transfer-of-multigene-panel-testing-for-hereditary-breast-and-ovarian-cancer-to-healthcare-what-are-the-implications-for-the-management-of-patients-and-families
#7
Marie Eliade, Jeremy Skrzypski, Amandine Baurand, Caroline Jacquot, Geoffrey Bertolone, Catherine Loustalot, Charles Coutant, France Guy, Pierre Fumoleau, Yannis Duffourd, Laurent Arnould, Alexandra Delignette, Marie-Martine Padéano, Côme Lepage, Géraldine Raichon-Patru, Axelle Boudrant, Marie-Christine Bône-Lépinoy, Anne-Laure Villing, Aurélie Charpin, Karine Peignaux, Sandy Chevrier, Frédérique Vegran, François Ghiringhelli, Romain Boidot, Nicolas Sevenet, Sarab Lizard, Laurence Faivre
Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. Next generation sequencing and the recent discovery of new genes involved in HBOC now permit the transfer of genomic capture targeting multiple candidate genes from research to clinical use. However, the implications for the management of patients and their families have not been extensively studied, in particular since some of these genes are not well-established cancer predisposing genes...
October 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/27768182/association-of-distinct-mutational-signatures-with-correlates-of-increased-immune-activity-in-pancreatic-ductal-adenocarcinoma
#8
Ashton A Connor, Robert E Denroche, Gun Ho Jang, Lee Timms, Sangeetha N Kalimuthu, Iris Selander, Treasa McPherson, Gavin W Wilson, Michelle A Chan-Seng-Yue, Ivan Borozan, Vincent Ferretti, Robert C Grant, Ilinca M Lungu, Eithne Costello, William Greenhalf, Daniel Palmer, Paula Ghaneh, John P Neoptolemos, Markus Buchler, Gloria Petersen, Sarah Thayer, Michael A Hollingsworth, Alana Sherker, Daniel Durocher, Neesha Dhani, David Hedley, Stefano Serra, Aaron Pollett, Michael H A Roehrl, Prashant Bavi, John M S Bartlett, Sean Cleary, Julie M Wilson, Ludmil B Alexandrov, Malcolm Moore, Bradly G Wouters, John D McPherson, Faiyaz Notta, Lincoln D Stein, Steven Gallinger
Importance: Outcomes for patients with pancreatic ductal adenocarcinoma (PDAC) remain poor. Advances in next-generation sequencing provide a route to therapeutic approaches, and integrating DNA and RNA analysis with clinicopathologic data may be a crucial step toward personalized treatment strategies for this disease. Objective: To classify PDAC according to distinct mutational processes, and explore their clinical significance. Design, Setting, and Participants: We performed a retrospective cohort study of resected PDAC, using cases collected between 2008 and 2015 as part of the International Cancer Genome Consortium...
October 20, 2016: JAMA Oncology
https://www.readbyqxmd.com/read/27757719/characterization-of-a-novel-germline-palb2-duplication-in-a-hereditary-breast-and-ovarian-cancer-family
#9
Ciyu Yang, Angela G Arnold, Magan Trottier, Yukio Sonoda, Nadeem R Abu-Rustum, Oliver Zivanovic, Mark E Robson, Zsofia K Stadler, Michael F Walsh, David M Hyman, Kenneth Offit, Liying Zhang
PURPOSE: Mutations in PALB2 have been associated with a predisposition to breast and pancreatic cancers. This study aims to characterize a novel PALB2 exon 13 duplication in a hereditary breast and ovarian cancer family. METHODS: The PALB2 exon 13 duplication in this family was evaluated using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT™) and confirmed by multiplex ligation-dependent probe amplification (MLPA)...
October 18, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27749330/targeting-dna-repair-the-role-of-parp-inhibition-in-the-treatment-of-castration-resistant-prostate-cancer
#10
Elena Castro, Joaquin Mateo, David Olmos, Johann S de Bono
Several genomic studies have identified DNA repair gene defects in prostate cancer in the last 5 years. The mechanisms by which these DNA repair defects promote carcinogenesis and tumor progression in the prostate have not been fully elucidated, but their presence in at least 20-25% of metastatic castration-resistant prostate cancers (CRPCs) provides an opportunity for a therapeutic strategy that turns a tumor strength into its weakness and may lead to arguably the first molecularly stratified treatment for this disease...
September 2016: Cancer Journal
https://www.readbyqxmd.com/read/27734215/time-to-incorporate-germline-multigene-panel-testing-into-breast-and-ovarian-cancer-patient-care
#11
REVIEW
Rossella Graffeo, Luca Livraghi, Olivia Pagani, Aron Goldhirsch, Ann H Partridge, Judy E Garber
PURPOSE: Genetic evaluation is increasingly becoming an integral part of the management of women with newly diagnosed breast and ovarian cancer (OC), and of individuals at high risk for these diseases. Genetic counseling and testing have been incorporated into oncological care to help and complete management and treatment strategies. Risk assessment and early detection strategies in individuals with BRCA1/2 mutations and with Lynch syndrome have been quite extensively studied, whereas much less is known about the management of mutation carriers with less common high-penetrance cancer susceptibility genes (PTEN, TP53, STK11, CDH1), and particularly those who carry mutations in moderate-penetrance genes (e...
December 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27732944/germline-mutations-in-japanese-familial-pancreatic-cancer-patients
#12
Erina Takai, Shinichi Yachida, Kyoko Shimizu, Junji Furuse, Emi Kubo, Akihiro Ohmoto, Masami Suzuki, Ralph H Hruban, Takuji Okusaka, Chigusa Morizane, Toru Furukawa
Clinicopathologic and genetic features of familial pancreatic cancer (FPC) in Asian countries remain largely unknown. The main purpose of this study was to determine the prevalence of FPC and to define causative FPC-predisposition genes in a Japanese cohort with pancreatic ductal adenocarcinoma (PDAC).We reviewed 1,197 patients with a pathologically proven PDAC and found that 88 (7.3%) were FPC patients who had at least one first-degree relative with PDAC. There were no significant differences between the FPC cases and sporadic cases in terms of gender, age, tumor location, stage, family history of any cancer except PDAC, and personal history of smoking, other cancers, diabetes mellitus and chronic pancreatitis...
October 6, 2016: Oncotarget
https://www.readbyqxmd.com/read/27648926/whole-exome-sequencing-and-targeted-gene-sequencing-provide-insights-into-the-role-of-palb2-as-a-male-breast-cancer-susceptibility-gene
#13
Valentina Silvestri, Veronica Zelli, Virginia Valentini, Piera Rizzolo, Anna Sara Navazio, Anna Coppa, Simona Agata, Cristina Oliani, Daniela Barana, Tiziana Castrignanò, Alessandra Viel, Antonio Russo, Maria Grazia Tibiletti, Ines Zanna, Giovanna Masala, Laura Cortesi, Siranoush Manoukian, Jacopo Azzollini, Bernard Peissel, Bernardo Bonanni, Paolo Peterlongo, Paolo Radice, Domenico Palli, Giuseppe Giannini, Giovanni Chillemi, Marco Montagna, Laura Ottini
BACKGROUND: Male breast cancer (MBC) is a rare disease whose etiology appears to be largely associated with genetic factors. BRCA1 and BRCA2 mutations account for about 10% of all MBC cases. Thus, a fraction of MBC cases are expected to be due to genetic factors not yet identified. To further explain the genetic susceptibility for MBC, whole-exome sequencing (WES) and targeted gene sequencing were applied to high-risk, BRCA1/2 mutation-negative MBC cases. METHODS: Germ-line DNA of 1 male and 2 female BRCA1/2 mutation-negative breast cancer (BC) cases from a pedigree showing a first-degree family history of MBC was analyzed with WES...
September 20, 2016: Cancer
https://www.readbyqxmd.com/read/27631815/frequency-of-germline-palb2-mutations-among-women-with-epithelial-ovarian-cancer
#14
Joanne Kotsopoulos, Victoria Sopik, Barry Rosen, Isabel Fan, John R McLaughlin, Harvey Risch, Ping Sun, Steven A Narod, Mohammad R Akbari
Recent studies suggest that mutations in the partner and localizer of BRCA2 (PALB2) gene may predispose to ovarian cancer. It is of importance to clarify the prevalence and penetrance of PALB2 mutations in an unselected population so that clinical recommendations for prevention can be implemented. We evaluated the prevalence of germline mutations in PALB2 among 1421 epithelial ovarian cancer patients and 4300 European controls from the National Heart, Lung, and Blood Institute's Exome Sequencing Project dataset...
September 8, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27624329/haplotype-analyses-of-the-c-1027c-t-and-c-2167_2168delat-recurrent-truncating-mutations-in-the-breast-cancer-predisposing-gene-palb2
#15
Irene Catucci, Silvia Casadei, Yuan Chun Ding, Sara Volorio, Filomena Ficarazzi, Anna Falanga, Marina Marchetti, Carlo Tondini, Michela Franchi, Aaron Adamson, Jessica Mandell, Tom Walsh, Olufunmilayo I Olopade, Siranoush Manoukian, Paolo Radice, Charite Ricker, Jeffrey Weitzel, Mary-Claire King, Paolo Peterlongo, Susan L Neuhausen
PURPOSE: Breast cancer-predisposing mutations PALB2 c.1027C>T (p.Gln343*) and PALB2 c.2167_2168delAT have each been observed multiple times in breast cancer families of Italian ancestry. More recently, the c2167_2168delAT mutation was identified in unrelated breast cancer cases of various ancestries. For each mutation, we investigated whether the origin was multiple mutational events (a "hot-spot") or a single event (a founder allele). METHODS: We genotyped and reconstructed haplotypes for 36 participants of Italian, Italian-American, Hispanic, and Nigerian ancestries, using seven short tandem repeat (STR) markers that covered 3 Megabases within and flanking PALB2 on chromosome 16...
November 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27621404/conflicting-interpretation-of-genetic-variants-and-cancer-risk-by-commercial-laboratories-as-assessed-by-the-prospective-registry-of-multiplex-testing
#16
Judith Balmaña, Laura Digiovanni, Pragna Gaddam, Michael F Walsh, Vijai Joseph, Zsofia K Stadler, Katherine L Nathanson, Judy E Garber, Fergus J Couch, Kenneth Offit, Mark E Robson, Susan M Domchek
Purpose Massively parallel sequencing allows simultaneous testing of multiple genes associated with cancer susceptibility. Guidelines are available for variant classification; however, interpretation of these guidelines by laboratories and providers may differ and lead to conflicting reporting and, potentially, to inappropriate medical management. We describe conflicting variant interpretations between Clinical Laboratory Improvement Amendments-approved commercial clinical laboratories, as reported to the Prospective Registry of Multiplex Testing (PROMPT), an online genetic registry...
December 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27616075/gene-panel-sequencing-in-familial-breast-ovarian-cancer-patients-identifies-multiple-novel-mutations-also-in-genes-others-than-brca1-2
#17
Cornelia Kraus, Juliane Hoyer, Georgia Vasileiou, Marius Wunderle, Michael P Lux, Peter A Fasching, Mandy Krumbiegel, Steffen Uebe, Miriam Reuter, Matthias W Beckmann, André Reis
Breast and ovarian cancer (BC/OC) predisposition has been attributed to a number of high- and moderate to low-penetrance susceptibility genes. With the advent of next generation sequencing (NGS) simultaneous testing of these genes has become feasible. In this monocentric study, we report results of panel-based screening of 14 BC/OC susceptibility genes (BRCA1, BRCA2, RAD51C, RAD51D, CHEK2, PALB2, ATM, NBN, CDH1, TP53, MLH1, MSH2, MSH6 and PMS2) in a group of 581 consecutive individuals from a German population with BC and/or OC fulfilling diagnostic criteria for BRCA1 and BRCA2 testing including 179 with a triple-negative tumor...
January 1, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27595995/palb2-chek2-and-atm-rare-variants-and-cancer-risk-data-from-cogs
#18
Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Dörk, Kathleen Bm Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo, Helen Tsimiklis, Fabrice A Odefrey, James G Dowty, Marjanka K Schmidt, Annegien Broeks, Frans B Hogervorst, Senno Verhoef, Jane Carpenter, Christine Clarke, Rodney J Scott, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, Julian Peto, Isabel Dos-Santos-Silva, Olivia Fletcher, Nichola Johnson, Manjeet K Bolla, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Federik Marme, Barbara Burwinkel, Rongxi Yang, Pascal Guénel, Thérèse Truong, Florence Menegaux, Marie Sanchez, Stig Bojesen, Sune F Nielsen, Henrik Flyger, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Hoda Anton-Culver, Susan Neuhausen, Argyrios Ziogas, Christina A Clarke, Hermann Brenner, Volker Arndt, Christa Stegmaier, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Natalia V Bogdanova, Natalia N Antonenkova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Amanda B Spurdle, kConFab Investigators, Els Wauters, Dominiek Smeets, Benoit Beuselinck, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Janet E Olson, Celine Vachon, Vernon S Pankratz, Catriona McLean, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Vessela Kristensen, Grethe Grenaker Alnæs, Wei Zheng, David J Hunter, Sara Lindstrom, Susan E Hankinson, Peter Kraft, Irene Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Arja Jukkola-Vuorinen, Mervi Grip, Saila Kauppila, Peter Devilee, Robert A E M Tollenaar, Caroline Seynaeve, Antoinette Hollestelle, Montserrat Garcia-Closas, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diana M Eccles, Sajjad Rafiq, William J Tapper, Sue M Gerty, Maartje J Hooning, John W M Martens, J Margriet Collée, Madeleine Tilanus-Linthorst, Per Hall, Jingmei Li, Judith S Brand, Keith Humphreys, Angela Cox, Malcolm W R Reed, Craig Luccarini, Caroline Baynes, Alison M Dunning, Ute Hamann, Diana Torres, Hans Ulrich Ulmer, Thomas Rüdiger, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Susan Slager, Amanda E Toland, Christine B Ambrosone, Drakoulis Yannoukakos, Anthony Swerdlow, Alan Ashworth, Nick Orr, Michael Jones, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Nuria Álvarez, Daniel Herrero, Daniel C Tessier, Daniel Vincent, Francois Bacot, Jacques Simard, Martine Dumont, Penny Soucy, Rosalind Eeles, Kenneth Muir, Fredrik Wiklund, Henrik Gronberg, Johanna Schleutker, Børge G Nordestgaard, Maren Weischer, Ruth C Travis, David Neal, Jenny L Donovan, Freddie C Hamdy, Kay-Tee Khaw, Janet L Stanford, William J Blot, Stephen Thibodeau, Daniel J Schaid, Joseph L Kelley, Christiane Maier, Adam S Kibel, Cezary Cybulski, Lisa Cannon-Albright, Katja Butterbach, Jong Park, Radka Kaneva, Jyotsna Batra, Manuel R Teixeira, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Stefan P Renner, Arndt Hartmann, Alexander Hein, Matthias Ruebner, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Sandrina Lambretchs, Jennifer A Doherty, Mary Anne Rossing, Stefan Nickels, Ursula Eilber, Shan Wang-Gohrke, Kunle Odunsi, Lara E Sucheston-Campbell, Grace Friel, Galina Lurie, Jeffrey L Killeen, Lynne R Wilkens, Marc T Goodman, Ingo Runnebaum, Peter A Hillemanns, Liisa M Pelttari, Ralf Butzow, Francesmary Modugno, Robert P Edwards, Roberta B Ness, Kirsten B Moysich, Andreas du Bois, Florian Heitz, Philipp Harter, Stefan Kommoss, Beth Y Karlan, Christine Walsh, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Bernard Peissel, Bernardo Bonanni, Loris Bernard, Ellen L Goode, Brooke L Fridley, Robert A Vierkant, Julie M Cunningham, Melissa C Larson, Zachary C Fogarty, Kimberly R Kalli, Dong Liang, Karen H Lu, Michelle A T Hildebrandt, Xifeng Wu, Douglas A Levine, Fanny Dao, Maria Bisogna, Andrew Berchuck, Edwin S Iversen, Jeffrey R Marks, Lucy Akushevich, Daniel W Cramer, Joellen Schildkraut, Kathryn L Terry, Elizabeth M Poole, Meir Stampfer, Shelley S Tworoger, Elisa V Bandera, Irene Orlow, Sara H Olson, Line Bjorge, Helga B Salvesen, Anne M van Altena, Katja K H Aben, Lambertus A Kiemeney, Leon F A G Massuger, Tanja Pejovic, Yukie Bean, Angela Brooks-Wilson, Linda E Kelemen, Linda S Cook, Nhu D Le, Bohdan Górski, Jacek Gronwald, Janusz Menkiszak, Claus K Høgdall, Lene Lundvall, Lotte Nedergaard, Svend Aage Engelholm, Ed Dicks, Jonathan Tyrer, Ian Campbell, Iain McNeish, James Paul, Nadeem Siddiqui, Rosalind Glasspool, Alice S Whittemore, Joseph H Rothstein, Valerie McGuire, Weiva Sieh, Hui Cai, Xiao-Ou Shu, Rachel T Teten, Rebecca Sutphen, John R McLaughlin, Steven A Narod, Catherine M Phelan, Alvaro N Monteiro, David Fenstermacher, Hui-Yi Lin, Jennifer B Permuth, Thomas A Sellers, Y Ann Chen, Ya-Yu Tsai, Zhihua Chen, Aleksandra Gentry-Maharaj, Simon A Gayther, Susan J Ramus, Usha Menon, Anna H Wu, Celeste L Pearce, David Van Den Berg, Malcolm C Pike, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Joanna Moes-Sosnowska, Jolanta Kupryjanczyk, Paul Dp Pharoah, Honglin Song, Ingrid Winship, Georgia Chenevix-Trench, Graham G Giles, Sean V Tavtigian, Doug F Easton, Roger L Milne
BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. METHODS: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c...
December 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27573125/association-of-palb2-sequence-variants-with-the-risk-of-early-onset-breast-cancer-in-patients-from-turkey
#19
G Cecener, G Guney Eskiler, U Egeli, B Tunca, A Alemdar, S Gokgoz, I Tasdelen
The PALB2 gene, has been accepted as a moderate-penetrance gene associated with breast cancer susceptibility and this gene product is involved in the DNA damage repair pathway via co-localization with BRCA2. Germline PALB2 mutations are associated with an increased breast cancer risk. However, the prevalence of the diverse types of PALB2 variants depend on the population. Thus, the aim of the present study was to determine, for the first time, the prevalence of PALB2 variants in a Turkish population of BRCA1/BRCA2-negative early-onset patients with breast cancer...
November 2016: Molecular Biology Reports
https://www.readbyqxmd.com/read/27553368/implementation-of-next-generation-sequencing-for-molecular-diagnosis-of-hereditary-breast-and-ovarian-cancer-highlights-its-genetic-heterogeneity
#20
Pedro Pinto, Paula Paulo, Catarina Santos, Patrícia Rocha, Carla Pinto, Isabel Veiga, Manuela Pinheiro, Ana Peixoto, Manuel R Teixeira
Molecular diagnosis of hereditary breast and ovarian cancer (HBOC) by standard methodologies has been limited to the BRCA1 and BRCA2 genes. With the recent development of new sequencing methodologies, the speed and efficiency of DNA testing have dramatically improved. The aim of this work was to validate the use of next-generation sequencing (NGS) for the detection of BRCA1/BRCA2 point mutations in a diagnostic setting and to study the role of other genes associated with HBOC in Portuguese families. A cohort of 94 high-risk families was included in the study, and they were initially screened for the two common founder mutations with variant-specific methods...
September 2016: Breast Cancer Research and Treatment
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