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https://www.readbyqxmd.com/read/29053726/prevalence-of-deleterious-germline-variants-in-risk-genes-including-brca1-2-in-consecutive-ovarian-cancer-patients-ago-tr-1
#1
Philipp Harter, Jan Hauke, Florian Heitz, Alexander Reuss, Stefan Kommoss, Frederik Marmé, André Heimbach, Katharina Prieske, Lisa Richters, Alexander Burges, Guido Neidhardt, Nikolaus de Gregorio, Ahmed El-Balat, Felix Hilpert, Werner Meier, Rainer Kimmig, Karin Kast, Jalid Sehouli, Klaus Baumann, Christian Jackisch, Tjoung-Won Park-Simon, Lars Hanker, Sandra Kröber, Jacobus Pfisterer, Heidrun Gevensleben, Andreas Schnelzer, Dimo Dietrich, Tanja Neunhöffer, Mathias Krockenberger, Sara Y Brucker, Peter Nürnberg, Holger Thiele, Janine Altmüller, Josefin Lamla, Gabriele Elser, Andreas du Bois, Eric Hahnen, Rita Schmutzler
BACKGROUND: Identification of families at risk for ovarian cancer offers the opportunity to consider prophylactic surgery thus reducing ovarian cancer mortality. So far, identification of potentially affected families in Germany was solely performed via family history and numbers of affected family members with breast or ovarian cancer. However, neither the prevalence of deleterious variants in BRCA1/2 in ovarian cancer in Germany nor the reliability of family history as trigger for genetic counselling has ever been evaluated...
2017: PloS One
https://www.readbyqxmd.com/read/29052111/targeted-massively-parallel-sequencing-characterises-the-mutation-spectrum-of-palb2-in-breast-and-ovarian-cancer-cases-from-poland-and-ukraine
#2
Aleksander Myszka, Tu Nguyen-Dumont, Pawel Karpinski, Maria M Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C Southey
Loss-of-function germline mutations in the PALB2 gene are associated with an increase of breast cancer risk. The purpose of this study was to characterise the spectrum of PALB2 mutations in women affected with breast or ovarian cancer from South-West Poland and West Ukraine. We applied Hi-Plex, an amplicon-based enrichment method for targeted massively parallel sequencing, to screen the coding exons and proximal intron-exon junctions of PALB2 in germline DNA from unrelated women affected with breast cancer (n = 338) and ovarian cancer (n = 89) from Poland (n = 304) and Ukraine (n = 123)...
October 19, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28985766/mutations-in-brca1-brca2-and-other-breast-and-ovarian-cancer-susceptibility-genes-in-central-and-south-american-populations
#3
REVIEW
Lilian Jara, Sebastian Morales, Tomas de Mayo, Patricio Gonzalez-Hormazabal, Valentina Carrasco, Raul Godoy
Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel...
October 6, 2017: Biological Research
https://www.readbyqxmd.com/read/28976962/brca1-bard1-promotes-rad51-mediated-homologous-dna-pairing
#4
Weixing Zhao, Justin B Steinfeld, Fengshan Liang, Xiaoyong Chen, David G Maranon, Chu Jian Ma, Youngho Kwon, Timsi Rao, Weibin Wang, Chen Sheng, Xuemei Song, Yanhong Deng, Judit Jimenez-Sainz, Lucy Lu, Ryan B Jensen, Yong Xiong, Gary M Kupfer, Claudia Wiese, Eric C Greene, Patrick Sung
The tumour suppressor complex BRCA1-BARD1 functions in the repair of DNA double-stranded breaks by homologous recombination. During this process, BRCA1-BARD1 facilitates the nucleolytic resection of DNA ends to generate a single-stranded template for the recruitment of another tumour suppressor complex, BRCA2-PALB2, and the recombinase RAD51. Here, by examining purified wild-type and mutant BRCA1-BARD1, we show that both BRCA1 and BARD1 bind DNA and interact with RAD51, and that BRCA1-BARD1 enhances the recombinase activity of RAD51...
October 4, 2017: Nature
https://www.readbyqxmd.com/read/28975465/expanding-the-spectrum-of-germline-variants-in-cancer
#5
Abdul K Siraj, Tariq Masoodi, Rong Bu, Sandeep Kumar Parvathareddy, Ismail A Al-Badawi, Nasser Al-Sanea, Luai H Ashari, Alaa Abduljabbar, Samar Alhomoud, Saif S Al-Sobhi, Asma Tulbah, Dahish Ajarim, Khalid Alzoman, Muna Aljuboury, Hussam Bin Yousef, Mohammed Al-Dawish, Fouad Al-Dayel, Fowzan S Alkuraya, Khawla S Al-Kuraya
Our ability to identify germline variants in hereditary cancer cases remains challenged by the incomplete cataloging of relevant genes and lack of consensus on who should be tested. We designed a panel [hereditary oncogenesis predisposition evaluation (HOPE)] that encompasses most of the genes known to be associated with cancer development and tested its yield on more than 1300 samples of cancer patients. Pathogenic or likely pathogenic variants in high and intermediate risk genes were identified in 16, 23...
October 3, 2017: Human Genetics
https://www.readbyqxmd.com/read/28891274/breast-cancer-risk-and-germline-genomic-profiling-of-women-with-neurofibromatosis-type-1-who-developed-breast-cancer
#6
Xia Wang, Jamie K Teer, Renee N Tousignant, Albert M Levin, David Boulware, Dhananjay A Chitale, Brandon M Shaw, Zhihua Chen, Yonghong Zhang, Jaishri O Blakeley, Maria T Acosta, Ludwine M Messiaen, Bruce R Korf, Michael A Tainsky
NF1 mutations predispose to neurofibromatosis type1 (NF1) and women with NF1 have a moderately elevated risk for breast cancer, especially under age 50. Germline genomic analysis may better define the risk so screening and prevention can be applied to the individuals who benefit the most. Survey conducted in several neurofibromatosis clinics in the United States has demonstrated a 17.2% lifetime risk of breast cancer in women affected with NF1. Cumulated risk to age 50 is estimated to be 9.27%. For genomic profiling, fourteen women with NF1 and a history of breast cancer were recruited and underwent whole exon sequencing (WES), targeted genomic DNA based and RNA based analysis of the NF1 gene...
September 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28874143/chek2-c-1100delc-mutation-is-associated-with-an-increased-risk-for-male-breast-cancer-in-finnish-patient-population
#7
Sanna Hallamies, Liisa M Pelttari, Paula Poikonen-Saksela, Antti Jekunen, Arja Jukkola-Vuorinen, Päivi Auvinen, Carl Blomqvist, Kristiina Aittomäki, Johanna Mattson, Heli Nevanlinna
BACKGROUND: Several susceptibility genes have been established for female breast cancer, of which mutations in BRCA1 and especially in BRCA2 are also known risk factors for male breast cancer (MBC). The role of other breast cancer genes in MBC is less well understood. METHODS: In this study, we have genotyped 68 MBC patients for the known breast or ovarian cancer associated mutations in the Finnish population in CHEK2, PALB2, RAD51C, RAD51D, and FANCM genes. RESULTS: CHEK2 c...
September 5, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28864920/discovery-of-mutations-in-homologous-recombination-genes-in-african-american-women-with-breast-cancer
#8
Yuan Chun Ding, Aaron W Adamson, Linda Steele, Adam M Bailis, Esther M John, Gail Tomlinson, Susan L Neuhausen
African-American women are more likely to develop aggressive breast cancer at younger ages and experience poorer cancer prognoses than non-Hispanic Caucasians. Deficiency in repair of DNA by homologous recombination (HR) is associated with cancer development, suggesting that mutations in genes that affect this process may cause breast cancer. Inherited pathogenic mutations have been identified in genes involved in repairing DNA damage, but few studies have focused on African-Americans. We screened for germline mutations in seven HR repair pathway genes in DNA of 181 African-American women with breast cancer, evaluated the potential effects of identified missense variants using in silico prediction software, and functionally characterized a set of missense variants by yeast two-hybrid assays...
September 2, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28864639/reversion-mutations-with-clinical-use-of-parp-inhibitors-many-genes-many-versions
#9
Susan M Domchek
Reversion mutations associated with PARP inhibitor resistance have been identified in tumors with RAD51C, RAD51D, and PALB2 as well as BRCA1 and BRCA2 mutations. Multiple different reversion mutations can occur in a single patient, and they can be detected by analysis of circulating cell-free DNA. Cancer Discov; 7(9); 937-9. ©2017 AACRSee related article by Kondrashova et al., p. 984See related article by Quigley et al., p. 999See related article by Goodall et al., p. 1006.
September 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28858227/the-role-of-palb2-in-the-dna-damage-response-and-cancer-predisposition
#10
REVIEW
Thales C Nepomuceno, Giuliana De Gregoriis, Francisco M Bastos de Oliveira, Guilherme Suarez-Kurtz, Alvaro N Monteiro, Marcelo A Carvalho
The deoxyribonucleic acid (DNA) damage response (DDR) is a major feature in the maintenance of genome integrity and in the suppression of tumorigenesis. PALB2 (Partner and Localizer of Breast Cancer 2 (BRCA2)) plays an important role in maintaining genome integrity through its role in the Fanconi anemia (FA) and homologous recombination (HR) DNA repair pathways. Since its identification as a BRCA2 interacting partner, PALB2 has emerged as a pivotal tumor suppressor protein associated to hereditary cancer susceptibility to breast and pancreatic cancers...
August 31, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28837162/individuals-with-fancm-biallelic-mutations-do-not-develop-fanconi-anemia-but-show-risk-for-breast-cancer-chemotherapy-toxicity-and-may-display-chromosome-fragility
#11
Irene Catucci, Ana Osorio, Brita Arver, Guido Neidhardt, Massimo Bogliolo, Federica Zanardi, Mirko Riboni, Simone Minardi, Roser Pujol, Jacopo Azzollini, Bernard Peissel, Siranoush Manoukian, Giovanna De Vecchi, Stefano Casola, Jan Hauke, Lisa Richters, Kerstin Rhiem, Rita K Schmutzler, Karin Wallander, Therese Törngren, Åke Borg, Paolo Radice, Jordi Surrallés, Eric Hahnen, Hans Ehrencrona, Anders Kvist, Javier Benitez, Paolo Peterlongo
PurposeMonoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS). FANCM monoallelic mutations have been reported as moderate risk factors for breast cancer, but there are no reports of any clinical phenotype observed in carriers of biallelic mutations...
August 24, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28828701/inherited-predisposition-to-breast-and-ovarian-cancer-in-non-jewish-populations-in-israel
#12
Jamal Zidan, Alicia Y Zhou, Jeroen van den Akker, Yael Laitman, Hagit Schayek, Julia Schnaider, Eitan Friedman
PURPOSE: The contribution of genetic factors to cancer in non-Jewish populations in Israel is understudied. Yet the early, mostly premenopausal age at breast cancer diagnosis is suggestive of an inherited predisposition. METHODS: High-risk cancer cases of non-Jewish origin who were counseled at the Oncogenetics unit, Sheba Medical Center and the oncology institute at the Ziv medical center from January 1, 2000 to December 31 2016 were eligible. DNA extracted from leukocytes was subjected to massive parallel, next-generation sequencing using the Color Genomics platform...
August 21, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28825729/a-children-s-oncology-group-and-target-initiative-exploring-the-genetic-landscape-of-wilms-tumor
#13
Samantha Gadd, Vicki Huff, Amy L Walz, Ariadne H A G Ooms, Amy E Armstrong, Daniela S Gerhard, Malcolm A Smith, Jaime M Guidry Auvil, Daoud Meerzaman, Qing-Rong Chen, Chih Hao Hsu, Chunhua Yan, Cu Nguyen, Ying Hu, Leandro C Hermida, Tanja Davidsen, Patee Gesuwan, Yussanne Ma, Zusheng Zong, Andrew J Mungall, Richard A Moore, Marco A Marra, Jeffrey S Dome, Charles G Mullighan, Jing Ma, David A Wheeler, Oliver A Hampton, Nicole Ross, Julie M Gastier-Foster, Stefan T Arold, Elizabeth J Perlman
We performed genome-wide sequencing and analyzed mRNA and miRNA expression, DNA copy number, and DNA methylation in 117 Wilms tumors, followed by targeted sequencing of 651 Wilms tumors. In addition to genes previously implicated in Wilms tumors (WT1, CTNNB1, AMER1, DROSHA, DGCR8, XPO5, DICER1, SIX1, SIX2, MLLT1, MYCN, and TP53), we identified mutations in genes not previously recognized as recurrently involved in Wilms tumors, the most frequent being BCOR, BCORL1, NONO, MAX, COL6A3, ASXL1, MAP3K4, and ARID1A...
October 2017: Nature Genetics
https://www.readbyqxmd.com/read/28825726/a-mutational-signature-reveals-alterations-underlying-deficient-homologous-recombination-repair-in-breast-cancer
#14
Paz Polak, Jaegil Kim, Lior Z Braunstein, Rosa Karlic, Nicholas J Haradhavala, Grace Tiao, Daniel Rosebrock, Dimitri Livitz, Kirsten Kübler, Kent W Mouw, Atanas Kamburov, Yosef E Maruvka, Ignaty Leshchiner, Eric S Lander, Todd R Golub, Aviad Zick, Alexandre Orthwein, Michael S Lawrence, Rajbir N Batra, Carlos Caldas, Daniel A Haber, Peter W Laird, Hui Shen, Leif W Ellisen, Alan D D'Andrea, Stephen J Chanock, William D Foulkes, Gad Getz
Biallelic inactivation of BRCA1 or BRCA2 is associated with a pattern of genome-wide mutations known as signature 3. By analyzing ∼1,000 breast cancer samples, we confirmed this association and established that germline nonsense and frameshift variants in PALB2, but not in ATM or CHEK2, can also give rise to the same signature. We were able to accurately classify missense BRCA1 or BRCA2 variants known to impair homologous recombination (HR) on the basis of this signature. Finally, we show that epigenetic silencing of RAD51C and BRCA1 by promoter methylation is strongly associated with signature 3 and, in our data set, was highly enriched in basal-like breast cancers in young individuals of African descent...
October 2017: Nature Genetics
https://www.readbyqxmd.com/read/28818315/screening-for-familial-cancer-risk-focus-on-breast-cancer
#15
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/28796317/mutation-status-of-rad51c-palb2-and-brip1-in-100-japanese-familial-breast-cancer-cases-without-brca1-and-brca2-mutations
#16
Katsutoshi Sato, Mio Koyasu, Sachio Nomura, Yuri Sato, Mizuho Kita, Yuumi Ashihara, Yasue Adachi, Shinji Ohno, Takuji Iwase, Dai Kitagawa, Eri Nakashima, Reiko Yoshida, Yoshio Miki, Masami Arai
In addition to BRCA1 and BRCA2, RAD51C, PALB2 and BRIP1 are known as breast cancer susceptibility genes. However, the mutation status of these genes in Japanese familial breast cancer cases has not yet been evaluated. To this end, we analyzed the exon sequence and genomic rearrangement of RAD51C, PALB2 and BRIP1 in 100 Japanese patients diagnosed with familial breast and ovarian cancer and without BRCA1 and BRCA2 mutations. We detected a large deletion from exons 6 to 9 in RAD51C, 4 novel BRIP1 missense variants containing 3 novel non-synonymous variants, c...
August 10, 2017: Cancer Science
https://www.readbyqxmd.com/read/28791855/the-risk-of-breast-cancer-due-to-palb2-gene-mutations
#17
REVIEW
Marta Wesoła, Michał Jeleń
No abstract text is available yet for this article.
March 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28789927/commentary-on-inherited-dna-repair-gene-mutations-in-men-with-metastatic-prostate-cancer-pritchard-cc-mateo-j-walsh-mf-de-sarkar-n-abida-w-beltran-h-garofalo-a-gulati-r-carreira-s-eeles-r-elemento-o-rubin-ma-robinson-d-lonigro-r-hussain-m-chinnaiyan-a-vinson
#18
Byron H Lee
BACKGROUND: Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer. Although the prevalence of germline mutations in DNA-repair genes among men with localized prostate cancer who are unselected for family predisposition is insufficient to warrant routine testing, the frequency of such mutations in patients with metastatic prostate cancer has not been established. METHODS: We recruited 692 men with documented metastatic prostate cancer who were unselected for family history of cancer or age at diagnosis...
August 5, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28767289/deleterious-germline-mutations-in-patients-with-apparently-sporadic-pancreatic-adenocarcinoma
#19
Koji Shindo, Jun Yu, Masaya Suenaga, Shahriar Fesharakizadeh, Christy Cho, Anne Macgregor-Das, Abdulrehman Siddiqui, P Dane Witmer, Koji Tamura, Tae Jun Song, Jose Alejandro Navarro Almario, Aaron Brant, Michael Borges, Madeline Ford, Thomas Barkley, Jin He, Matthew J Weiss, Christopher L Wolfgang, Nicholas J Roberts, Ralph H Hruban, Alison P Klein, Michael Goggins
Purpose Deleterious germline mutations contribute to pancreatic cancer susceptibility and are well documented in families in which multiple members have had pancreatic cancer. Methods To define the prevalence of these germline mutations in patients with apparently sporadic pancreatic cancer, we sequenced 32 genes, including known pancreatic cancer susceptibility genes, in DNA prepared from normal tissue obtained from 854 patients with pancreatic ductal adenocarcinoma, 288 patients with other pancreatic and periampullary neoplasms, and 51 patients with non-neoplastic diseases who underwent pancreatic resection at Johns Hopkins Hospital between 2000 and 2015...
October 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28726808/prevalence-of-germ-line-mutations-in-cancer-genes-among-pancreatic-cancer-patients-with-a-positive-family-history
#20
Kari G Chaffee, Ann L Oberg, Robert R McWilliams, Neil Majithia, Brian A Allen, John Kidd, Nanda Singh, Anne-Renee Hartman, Richard J Wenstrup, Gloria M Petersen
PurposePanel-based genetic testing has identified increasing numbers of patients with pancreatic ductal adenocarcinoma (PDAC) who carry germ-line mutations. However, small sample sizes or number of genes evaluated limit prevalence estimates of these mutations. We estimated prevalence of mutations in PDAC patients with positive family history.MethodsWe sequenced 25 cancer susceptibility genes in lymphocyte DNA from 302 PDAC patients in the Mayo Clinic Biospecimen Resource for Pancreatic Research Registry. Kindreds containing at least two first-degree relatives with PDAC met criteria for familial pancreatic cancer (FPC), while the remaining were familial, but not FPC...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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