☆ 4.5 Article

PALB2 mutations in German and Russian patients with bilateral breast cancer

BREAST CANCER RESEARCH AND TREATMENT (2011)

期刊

BREAST CANCER RESEARCH AND TREATMENT

卷 126, 期 2, 页码 545-550

出版社

SPRINGER

DOI: 10.1007/s10549-010-1290-4

关键词

PALB2; Breast cancer; High-resolution melting; Mutation; Review

类别

Oncology

资金

Russian Federation for Basic Research [08-04-00369, 10-04-92110, 10-04-92601, 10-04-00962]
Federal Agency for Science and Innovations [02.740.11.0780]
Commission of the European Communities [PITN-GA-2009-238132]
Government of Moscow [15/10]
German Academic Exchange Program (DAAD)
Friends of Hannover Medical School
Hannover Medical School
German Research Foundation (DFG) [Do 761/7-1]

向作者/读者索取更多资源

Protocol

Reagent

摘要

Since germline mutations in the PALB2 (Partner and Localizer of BRCA2) gene have been identified as breast cancer (BC) susceptibility alleles, the geographical spread and risks associated with PALB2 mutations are subject of intense investigation. Patients with bilateral breast cancer constitute a valuable group for genetic studies. We have thus scanned the whole coding region of PALB2 in a total of 203 German or Russian bilateral breast cancer patients using an approach based on high-resolution melting analysis and direct sequencing of genomic DNA samples. Truncating PALB2 mutations were identified in 4/203 (2%) breast cancer patients with bilateral disease. The two nonsense mutations, p.E545X and p.Q921X, have not been previously described whereas the two other mutations, p.R414X and c.509_510delGA, are recurrent. Our results indicate that PALB2 germline mutations account for a small, but not negligible, proportion of bilateral breast carcinomas in German and Russian populations.

作者

我是这篇论文的作者

点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.5

评分不足

次要评分

新颖性

-

重要性

-

科学严谨性

-

评价这篇论文

推荐

Article Oncology

Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients

Ava Kwong, Vivian Y. Shin, Cecilia Y. S. Ho, Aleena Khalid, Chun Hang Au, Karen K. L. Chan, Hextan Y. S. Ngan, Tsun-Leung Chan, Edmond S. K. Ma

Summary: Breast cancer is the most commonly diagnosed cancer in women globally, with BRCA1 and BRCA2 mutations associated with increased risk. The PALB2 mutation is also linked to increased risk of breast cancer and varies in prevalence among different ethnic groups. The study found that PALB2 mutation carriers were more likely to have hormonal positive tumors and familial aggregation of breast cancer.

CANCERS (2021)

添加到收藏夹

Article Oncology

Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants A Comparative Modeling Analysis

Kathryn P. Lowry, H. Amarens Geuzinge, Natasha K. Stout, Oguzhan Alagoz, John Hampton, Karla Kerlikowske, Harry J. de Koning, Diana L. Miglioretti, Nicolien T. van Ravesteyn, Clyde Schechter, Brian L. Sprague, Anna N. A. Tosteson, Amy Trentham-Dietz, Donald Weaver, Martin J. Yaffe, Jennifer M. Yeh, Fergus J. Couch, Chunling Hu, Peter Kraft, Eric C. Polley, Jeanne S. Mandelblatt, Allison W. Kurian, Mark E. Robson

Summary: Annual MRI screening starting at 30 to 35 years followed by annual MRI and mammography at 40 years may reduce breast cancer mortality by more than 50% for women with ATM, CHEK2, and PALB2 pathogenic variants. In the setting of MRI screening, mammography prior to 40 years may offer little additional benefit.

JAMA ONCOLOGY (2022)

添加到收藏夹

Article Oncology

Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2

Siddhartha Yadav, Nicholas J. Boddicker, Jie Na, Eric C. Polley, Chunling Hu, Steven N. Hart, Rohan D. Gnanaolivu, Nicole Larson, Susan Holtegaard, Huaizhi Huang, Carolyn A. Dunn, Lauren R. Teras, Alpa V. Patel, James V. Lacey, Susan L. Neuhausen, Elena Martinez, Christopher Haiman, Fei Chen, Kathryn J. Ruddy, Janet E. Olson, Esther M. John, Allison W. Kurian, Dale P. Sandler, Katie M. O'Brien, Jack A. Taylor, Clarice R. Weinberg, Hoda Anton-Culver, Argyrios Ziogas, Gary Zirpoli, David E. Goldgar, Julie R. Palmer, Susan M. Domchek, Jeffrey N. Weitzel, Katherine L. Nathanson, Peter Kraft, Fergus J. Couch

Summary: The purpose of this study was to estimate the risk of contralateral breast cancer (CBC) among women with germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2. The results showed that BRCA1, BRCA2, and CHEK2 PV carriers with breast cancer had significantly higher risks of CBC, while only PALB2 PV carriers with ER-negative breast cancer had elevated risks. However, ATM PV carriers did not have significantly increased CBC risks. The study suggests that women diagnosed with breast cancer and known to carry germline PVs in certain genes may benefit from enhanced surveillance and risk reduction strategies.

JOURNAL OF CLINICAL ONCOLOGY (2023)

添加到收藏夹

Article Genetics & Heredity

Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing

Na Li, Magnus Zethoven, Simone McInerny, Eliza Healey, Dilanka DeSilva, Lisa Devereux, Rodney J. Scott, Paul A. James, Ian G. Campbell

Summary: PALB2 is the most important contributor to familial breast cancer after BRCA1 and BRCA2. This study shows that a clinically important proportion of PALB2 pathogenic mutations in Australian patients with familial breast cancer are large genomic rearrangements (LGRs).

JOURNAL OF MEDICAL GENETICS (2023)

添加到收藏夹

Article Oncology

PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina

Ariana Gonzalez, Franco Del Greco, Laura Vargas-Roig, Bianca Brun, Gonzalo Tabares, Alejandra Mampel, Cecilia Montes, Claudia Martin, Marcela Lopez, Norma Rossi, Luisina Bruno, Carolina Ponce, Patricia Quaglio, Alvaro Yanzi, Santiago Acevedo, Lilia Lugo, Paula Lopez Breccia, Silvia Avila, Silvina Sisterna, Maria Soledad Del Castillo, Martin Vazquez, Lina M. Nunez

Summary: This study provides the first report on the molecular and clinical characteristics of PALB2 carriers in Argentina, revealing a higher frequency of PALB2 PV in Argentinian HBOC families compared to other reported populations, with Y551* being the main recurrent mutation.

BREAST CANCER RESEARCH AND TREATMENT (2022)

添加到收藏夹

Article Medicine, General & Internal

Case Report: Effectiveness of Targeted Treatment in a Patient With Pancreatic Cancer Harboring PALB2 Germline Mutation and KRAS Somatic Mutation

Wei Wu, Yu Liu, Yuzhi Jin, Lulu Liu, Yixuan Guo, Mian Xu, Qing Hao, Dazhi Li, Weijia Fang, Aibin Zhang, Peng Zhao

Summary: This article reports a case of a female pancreatic cancer patient. By utilizing next-generation sequencing, potential therapeutic targets for pancreatic cancer were identified, and corresponding drug treatments were administered, resulting in disease stabilization.

FRONTIERS IN MEDICINE (2022)

添加到收藏夹

Article Multidisciplinary Sciences

PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients

Abdul K. K. Siraj, Rong Bu, Sandeep Kumar Parvathareddy, Kaleem Iqbal, Saud Azam, Zeeshan Qadri, Maha Al-Rasheed, Wael Haqawi, Mark Diaz, Ingrid G. G. Victoria, Ismail A. A. Al-Badawi, Asma Tulbah, Fouad Al-Dayel, Dahish Ajarim, Khawla S. S. Al-Kuraya

Summary: By screening 918 breast cancer/ovarian cancer patients from Saudi Arabia, we identified six cases with pathogenic/likely pathogenic variants in the PALB2 gene, accounting for 0.65% of the entire cohort. Among these cases, two carried pathogenic variants and four carried likely pathogenic variants. All affected carriers had breast cancer, with a median age of diagnosis at 39.5 years, and only two cases had a documented family history of cancer.

SCIENTIFIC REPORTS (2023)

添加到收藏夹

Article Oncology

PALB2 Variants Extend the Mutational Profile of Hungarian Patients with Breast and Ovarian Cancer

Henriett Butz, Petra Nagy, Janos Papp, Aniko Bozsik, Vince Kornel Grolmusz, Timea Pocza, Edit Olah, Attila Patocs

Summary: The detection rate and characteristics of pathogenic/likely pathogenic (P/LP) variants in PALB2 gene may vary between different populations. In this study, PALB2 was analyzed in three independent cohorts and P/LP PALB2 variants were found in 1.4% of breast and/or ovarian cancer patients and in only 0.17% of patients with other cancers. The most common variant in our patients was NM_024675.4:c.509_510delGA.

CANCERS (2023)

添加到收藏夹

Article Oncology

The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women

Alexey Larionov, Eleanor Fewings, James Redman, Mae Goldgraben, Graeme Clark, John Boice, Patrick Concannon, Jonine Bernstein, David V. Conti, Marc WECARE Study Collaborative Grp, Marc Tischkowitz

Summary: In this study, researchers used genetic sequencing technologies to investigate the hereditary causes of second breast cancer in individuals who do not have alterations in the main breast cancer genes (BRCA1, BRCA2 and PALB2). They found that younger women with second breast cancers had a higher number of inherited gene alterations compared to women with only one breast cancer. This study improves our understanding of the hereditary contribution to second breast cancers.

CANCERS (2023)

添加到收藏夹

Article Oncology

Clinicopathological Features and Outcomes in Individuals with Breast Cancer and ATM, CHEK2, or PALB2 Mutations

Colin Bergstrom, Colton Pence, Jordan Berg, Natalia Partain, Navid Sadeghi, Caitlin Mauer, Sara Pirzadeh-Miller, Ang Gao, Hsiao Li, Nisha Unni, Samira Syed

Summary: A retrospective case-control study found that breast cancer patients with ATM, CHEK2, or PALB2 mutations had a higher family history of breast cancer, larger tumor size, and were more likely to undergo extensive surgeries. Mutation status was not predictive of recurrence, but patients who pursued total mastectomy had lower recurrence rates. Further studies are needed to confirm these findings.

ANNALS OF SURGICAL ONCOLOGY (2021)

添加到收藏夹

Article Oncology

High BRCA2 Gene Expression is Associated with Aggressive and Highly Proliferative Breast Cancer

Vikas Satyananda, Masanori Oshi, Itaru Endo, Kazuaki Takabe

Summary: High expression of BRCA2 in breast cancer is associated with aggressive tumor characteristics, high proliferation, DNA repair deficiency, and better response to PARP inhibitors, suggesting it may serve as a potential marker for aggressive biology and personalized treatment strategies in the future.

ANNALS OF SURGICAL ONCOLOGY (2021)

添加到收藏夹

Article Genetics & Heredity

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer

Emma R. Woodward, Elke M. van Veen, Claire Forde, Elaine F. Harkness, Helen J. Byers, Jamie M. Ellingford, George J. Burghel, Helene Schlech, Naomi L. Bowers, Andrew J. Wallace, Sacha J. Howell, Anthony Howell, Fiona Lalloo, William G. Newman, Miriam J. Smith, D. Gareth Evans

Summary: PALB2 and CHEK2 pathogenic gene variants contribute to familial breast and ovarian cancer, with PALB2 variants associated with specific breast cancer pathologies such as grade 3, TN, and grade 3 ER-positive HER2-negative tumors.

GENETICS IN MEDICINE (2021)

添加到收藏夹

Article Oncology

PALB2 mutations and prostate cancer risk and survival

Dominika Wokolorczyk, Wojciech Kluzniak, Klaudia Stempa, Bogna Rusak, Tomasz Huzarski, Jacek Gronwald, Katarzyna Gliniewicz, Aniruddh Kashyap, Sylwia Morawska, Tadeusz Debniak, Anna Jakubowska, Marek Szwiec, Pawel Domagala, Jan Lubinski, Steven A. Narod, Mohammad R. Akbari, Cezary Cybulski

Summary: In Poland, PALB2 mutations predispose individuals to an aggressive and lethal form of prostate cancer, with carriers having significantly lower survival rates.

BRITISH JOURNAL OF CANCER (2021)

添加到收藏夹

Article Oncology

High-resolution and quantitative spatial analysis reveal intra-ductal phenotypic and functional diversification in pancreatic cancer

Ellis Michiels, Hediel Madhloum, Silke Van Lint, Nouredin Messaoudi, Rastislav Kunda, Sandrina Martens, Philippe Giron, Catharina Olsen, Pierre Lefesvre, Nelson Dusetti, Leila EL Mohajer, Richard Tomasini, Lukas J. A. C. Hawinkels, Farah Ahsayni, Remy Nicolle, Tatjana Arsenijevic, Christelle Bouchart, Jean-Luc Van Laethem, Ilse Rooman

Summary: This study identifies two subtypes of pancreatic cancer and reveals spatial phenotypes within tumors through analysis of mRNA panels. These findings are important for understanding tumor heterogeneity and guiding therapeutic approaches.

JOURNAL OF PATHOLOGY (2023)

添加到收藏夹

Review Oncology

PALB2 Variants: Protein Domains and Cancer Susceptibility

Thales C. Nepomuceno, Marcelo A. Carvalho, Amelie Rodrigue, Jacques Simard, Jean-Yves Masson, Alvaro N. A. Monteiro

Summary: The loss-of-function variants of PALB2 mentioned in the study are typically located in the coiled coil (CC) or WD40 domains, which highlights the importance of these modular domains in the DNA damage response (DDR) and tumor suppression.

TRENDS IN CANCER (2021)

添加到收藏夹

Review Oncology

Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations

G. A. Yanus, E. L. Savonevich, A. P. Sokolenko, A. A. Romanko, V. Ni, E. Kh Bakaeva, O. A. Gorustovich, I. Bizin, E. N. Imyanitov

Summary: The study found that BRCA1/2 gene mutations in Belarusian population show a high level of founder allele effect. This is surprising as the population of Belarus did not experience geographic or cultural isolation throughout history.

FAMILIAL CANCER (2023)

添加到收藏夹

Article Biochemistry & Molecular Biology

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Gisella Figlioli, Amandine Billaud, Thomas U. Ahearn, Natalia N. Antonenkova, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Marinus J. Blok, Natalia Bogdanova, Bernardo Bonanni, Barbara Burwinkel, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, Stephen J. Chanock, Kamila Czene, Peter Devilee, Thilo Doerk, Christoph Engel, Mikael Eriksson, Peter A. Fasching, Jonine D. Figueroa, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat Garcia-Closas, Anna Gonzalez-Neira, Felix Grassmann, Pascal Guenel, Melanie Gundert, Andreas Hadjisavvas, Eric Hahnen, Per Hall, Ute Hamann, Patricia A. Harrington, Wei He, Peter Hillemanns, Antoinette Hollestelle, Maartje J. Hooning, Reiner Hoppe, Anthony Howell, Keith Humphreys, Agnes Jager, Anna Jakubowska, Elza K. Khusnutdinova, Yon-Dschun Ko, Vessela N. Kristensen, Annika Lindblom, Jolanta Lissowska, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Dimitrios Mavroudis, William G. Newman, Nadia Obi, Mihalis Panayiotidis, Muhammad U. Rashid, Valerie Rhenius, Matti A. Rookus, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Mitul Shah, Reijo Sironen, Melissa C. Southey, Maija Suvanto, Rob A. E. M. Tollenaar, Ian Tomlinson, Therese Truong, Lizet E. van der Kolk, Elke M. van Veen, Barbara Wappenschmidt, Xiaohong R. Yang, Manjeet K. Bolla, Joe Dennis, Alison M. Dunning, Douglas F. Easton, Michael Lush, Kyriaki Michailidou, Paul D. P. Pharoah, Qin Wang, Muriel A. Adank, Marjanka K. Schmidt, Irene L. Andrulis, Jenny Chang-Claude, Heli Nevanlinna, Georgia Chenevix-Trench, D. Gareth Evans, Roger L. Milne, Paolo Radice, Paolo Peterlongo

Summary: Evidence from the BRIDGES study suggests that germline protein truncating variants (PTVs) in FANCM are associated with increased risk of ER-negative and triple-negative breast cancer (TNBC), particularly for those with a family history. This study further investigates the association between FANCM missense variants (MVs) and breast cancer risk using the BRIDGES study, analyzing a total of 689 MVs. The results indicate that FANCM MVs may be low/moderate risk factors for ER-negative and TNBC subtypes of breast cancer.

EUROPEAN JOURNAL OF HUMAN GENETICS (2023)

添加到收藏夹

Article Oncology

Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

Josephine M. N. L. Cardozo, Irene L. E. Andrulis, Stig E. Bojesen, Thilo M. Doerk, Diana M. A. Eccles, Peter A. J. Fasching, Maartje J. Hooning, Renske Keeman, Heli Nevanlinna, Emiel J. T. F. Rutgers, Douglas F. Easton, Per Hall, Paul D. P. J. Pharoah, Laura J. K. van't Veer, Marjanka K. Schmidt

Summary: A polygenic risk score (PRS) consisting of 313 common genetic variants (PRS313) is associated with risk of breast cancer and contralateral breast cancer. This study aimed to evaluate the association of the PRS313 with clinicopathologic characteristics of, and survival following, breast cancer. The results showed that PRS313 is associated with favorable tumor characteristics but not independently associated with prognosis. Rating: 8/10.

JOURNAL OF CLINICAL ONCOLOGY (2023)

添加到收藏夹

Article Genetics & Heredity

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Stefanie H. Mueller, Alvina G. Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Michael Lush, Zomoruda Abu-Ful, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Kristan J. Aronson, Annelie Augustinsson, Thais Baert, Laura E. Beane Freeman, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, Natalia Bogdanova, Stig E. Bojesen, Bernardo Bonanni, Hermann Brenner, Sara Y. Brucker, Saundra S. Buys, Jose E. Castelao, Tsun L. Chan, Jenny Chang-Claude, Stephen J. Chanock, Ji-Yeob Choi, Wendy K. Chung, Sarah Colonna, Sten Cornelissen, Fergus J. Couch, Kamila Czene, Mary B. Daly, Peter Devilee, Thilo Dork, Laure Dossus, Miriam Dwek, Diana M. Eccles, Arif B. Ekici, A. Heather Eliassen, Christoph Engel, D. Gareth Evans, Peter A. Fasching, Olivia Fletcher, Henrik Flyger, Manuela Gago-Dominguez, Yu-Tang Gao, Montserrat Garcia-Closas, Jose A. Garcia-Saenz, Jeanine Genkinger, Aleksandra Gentry-Maharaj, Felix Grassmann, Pascal Guenel, Melanie Gundert, Lothar Haeberle, Eric Hahnen, Christopher A. Haiman, Niclas Hakansson, Per Hall, Elaine F. Harkness, Patricia A. Harrington, Jaana M. Hartikainen, Mikael Hartman, Alexander Hein, Weang-Kee Ho, Maartje J. Hooning, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, David J. Hunter, Dezheng Huo, Abctb Investigators, Hidemi Ito, Motoki Iwasaki, Anna Jakubowska, Wolfgang Janni, Esther M. John, Michael E. Jones, Audrey Jung, Rudolf Kaaks, Daehee Kang, Elza K. Khusnutdinova, Sung-Won Kim, Cari M. Kitahara, Stella Koutros, Peter Kraft, Vessela N. Kristensen, Katerina Kubelka-Sabit, Allison W. Kurian, Ava Kwong, James Lacey, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Martha Linet, Wing-Yee Lo, Jirong Long, Artitaya Lophatananon, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Keitaro Matsuo, Dimitrios Mavroudis, Usha Menon, Kenneth Muir, Rachel A. Murphy, Heli Nevanlinna, William G. Newman, Dieter Niederacher, Katie M. O'Brien, Nadia Obi, Kenneth Offit, Olufunmilayo Olopade, Andrew F. Olshan, Hakan Olsson, Sue K. Park, Alpa Patel, Achal Patel, Charles M. Perou, Julian Peto, Paul D. P. Pharoah, Dijana Plaseska-Karanfilska, Nadege Presneau, Brigitte Rack, Paolo Radice, Dhanya Ramachandran, Muhammad U. Rashid, Gad Rennert, Atocha Romero, Kathryn J. Ruddy, Matthias Ruebner, Emmanouil Saloustros, Dale P. Sandler, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Michael O. Schneider, Christopher Scott, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Harald Surowy, Rulla M. Tamimi, William J. Tapper, Jack A. Taylor, Soo Hwang Teo, Lauren R. Teras, Amanda E. Toland, Rob A. E. M. Tollenaar, Diana Torres, Gabriela Torres-Mejia, Melissa A. Troester, Therese Truong, Celine M. Vachon, Joseph Vijai, Clarice R. Weinberg, Camilla Wendt, Robert Winqvist, Alicja Wolk, Anna H. Wu, Taiki Yamaji, Xiaohong R. Yang, Jyh-Cherng Yu, Wei Zheng, Argyrios Ziogas, Elad Ziv, Alison M. Dunning, Douglas F. Easton, Harry Hemingway, Ute Hamann, Karoline B. Kuchenbaecker

Summary: This study identified 14 genes associated with breast cancer using gene-based aggregation analysis, including two newly discovered genes FMNL3 and AC058822.1. Furthermore, associations with established candidate genes like ESR1 were found through the collaboration of multi-ancestral cohorts, highlighting the importance of diversifying study cohorts. These findings provide new insights into the development of breast cancer.

GENOME MEDICINE (2023)

添加到收藏夹

Article Oncology

Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions

Sara Lindstrom, Lu Wang, Helian Feng, Arunabha Majumdar, Sijia Huo, James Macdonald, Tabitha Harrison, Constance Turman, Hongjie Chen, Nicholas Mancuso, Theo Bammler, Steve Gallinger, Stephen B. Gruber, Marc J. Gunter, Loic Le Marchand, Victor Moreno, Kenneth Offit, Immaculata De Vivo, Tracy A. O'Mara, Amanda B. Spurdle, Ian Tomlinson, Rebecca Fitzgerald, Puya Gharahkhani, Ines Gockel, Janusz Jankowski, Stuart Macgregor, Johannes Schumacher, Jill Barnholtz-Sloan, Melissa L. Bondy, Richard S. Houlston, Robert B. Jenkins, Beatrice Melin, Margaret Wrensch, Paul Brennan, David C. Christiani, Mattias Johansson, James Mckay, Melinda C. Aldrich, Christopher Amos, Maria Teresa Landi, Adonina Tardon, D. Timothy Bishop, Florence Demenais, Alisa M. Goldstein, Mark M. Iles, Peter A. Kanetsky, Matthew H. Law, Laufey T. Amundadottir, Rachael Stolzenberg-Solomon, Brian M. Wolpin, Alison Klein, Gloria Petersen, Harvey Risch, Stephen J. Chanock, Mark P. Purdue, Ghislaine Scelo, Paul Pharoah, Siddhartha Kar, Rayjean J. Hung, Bogdan Pasaniuc, Peter Kraft

Summary: This study quantified the shared genetic contribution to risk of different cancers and identified novel cancer susceptibility loci using data from 12 cancer genome-wide association studies. The results suggest that some genetic risk variants are shared among cancers, but most of cancer heritability is specific to certain tissues. Cross-disease analysis allows for increased statistical power and the identification of new susceptibility regions. Future studies are likely to discover additional regions associated with the risk of multiple cancer types.

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2023)

添加到收藏夹

Article Reproductive Biology

Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan

D. S. Prokofyeva, E. T. Mingazheva, Ya. V. Valova, D. D. Sakaeva, R. R. Faishanova, A. Kh. Nurgalieva, R. R. Valiev, N. Bogdanova, T. Doerk, E. K. Khusnutdinova

Summary: Around 5-10% of ovarian cancer cases have a familial pattern, with 15-25% of these cases being caused by high-risk mutations in the BRCA1 and BRCA2 genes. This study aimed to identify other genes associated with familial ovarian cancer by sequencing 21 candidate genes in DNA samples from 48 patients in the Republic of Bashkortostan. Deleterious variants in BRCA1, BRCA2, CHEK2, MSH6, and NBN were found in 16 patients (33%), including a previously unreported NBN truncating variant. The panel of genes analyzed explains approximately one-third of the familial ovarian cancer risk in this region.

JOURNAL OF OVARIAN RESEARCH (2023)

添加到收藏夹

Article Multidisciplinary Sciences

Multi-trait genome-wide association study identifies a novel endometrial cancer risk locus that associates with testosterone levels

Xuemin Wang, Pik Fang Kho, Dhanya Ramachandran, Cemsel Bafligil, Frederic Amant, Ellen L. Goode, Rodney J. Scott, Ian Tomlinson, D. Gareth Evans, Emma J. Crobie, Thilo Doerk, Amanda B. Spurdle, Dylan M. Clubb, Tracy A. O'Mara

Summary: By analyzing multiple endometrial cancer risk factors using a multi-trait GWAS analysis, we identified three potentially novel loci associated with endometrial cancer risk. One of these loci (7q22.1) was replicated in an independent endometrial cancer GWAS dataset and reached genome-wide significance in a meta-analysis. This locus may influence endometrial cancer risk through altered testosterone levels, as indicated by the colocalization between risk signals and expression of the testosterone metabolism gene CYP3A7. Our findings suggest potential opportunities for hormone therapy in the prevention or treatment of endometrial cancer.

ISCIENCE (2023)

添加到收藏夹

Article Oncology

Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus

Anna P. Sokolenko, Elvina Kh. Bakaeva, Aigul R. Venina, Ekaterina Sh. Kuligina, Alexandr A. Romanko, Svetlana N. Aleksakhina, Yana V. Belysheva, Evgeniya V. Belogubova, Ilya A. Stepanov, Olga A. Zaitseva, Olga S. Yatsuk, Alexandr V. Togo, Zaur M. Khamgokov, Azinat O. Kadyrova, Albert Sh. Pirmagomedov, Marina B. Bolieva, Alexandr A. Epkhiev, Aslan K. Tsutsaev, Madina D. Chakhieva, Khalimat M. Khabrieva, Idris M. Khabriev, Mirza A. Murachuev, Bella N. Buttaeva, Liliya S. Baboshkina, Fatima I. Bayramkulova, Islam R. Katchiev, Lina Kh. Alieva, Grigory A. Raskin, Sergey V. Orlov, Zarema K. Khachmamuk, Karine R. Levonyan, Dariya M. Gichko, Dmitriy V. Kirtbaya, Alexey M. Degtyariov, Luisa V. Sultanova, Hedi S. Musayeva, Alexey M. Belyaev, Evgeny N. Imyanitov

Summary: This study reveals the global-wide contribution of BRCA1/2 genes to high-grade serous ovarian cancer (HGSOC) and breast cancer (BC) morbidity in the North Caucasus region, although the spectrum of their pathogenic variants (PVs) shows ethnicity-specific variations. The data on founder BRCA1/2 alleles can be considered when adjusting the testing procedure to the ethnic origin of patients.

BREAST CANCER RESEARCH AND TREATMENT (2023)

添加到收藏夹

Article Immunology

Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants

Masatoshi Takagi, Akihiro Hoshino, Kristine Bousset, Jule Roeddecke, Hanna Luisa Martin, Iulia Folcut, Dan Tomomasa, Xi Yang, Junya Kobayashi, Naoki Sakata, Kenichi Yoshida, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Tomohiro Morio, Thilo Doerk, Hirokazu Kanegane

Summary: This study describes a newly identified RAD50 deficiency/NBS-like disorder (NBSLD) patient characterized by bone marrow failure and B-cell immunodeficiency. Compound heterozygosity for two variants in the RAD50 gene (p.Arg83His and p.Glu485Ter) was found in this patient. These findings highlight the important roles of RAD50 in human bone marrow and immune cells.

JOURNAL OF CLINICAL IMMUNOLOGY (2023)

添加到收藏夹

Article Genetics & Heredity

Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

Hagai Levi, Shai Carmi, Saharon Rosset, Rinat Yerushalmi, Aviad Zick, Tamar Yablonski-Peretz, Qin Wang, Manjeet K. Bolla, Joe Dennis, Kyriaki Michailidou, Michael Lush, Thomas Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Antonis C. Antoniou, Volker Arndt, Annelie Augustinsson, Paivi Auvinen, Laura Beane Freeman, Matthias Beckmann, Sabine Behrens, Marina Bermisheva, Clara Bodelon, Natalia Bogdanova, Stig E. Bojesen, Hermann Brenner, Helen Byers, Nicola Camp, Jose Castelao, Jenny Chang-Claude, Maria-Dolores Chirlaque, Wendy Chung, Christine Clarke, Margriet J. Collee, Sarah Colonna, Fergus Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary Daly, Peter Devilee, Thilo Dork, Laure Dossus, Diana M. Eccles, A. Heather Eliassen, Mikael Eriksson, Gareth Evans, Peter Fasching, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat Garcia-Closas, Jose Angel Garcia-Saenz, Jeanine Genkinger, Graham G. Giles, Mark Goldberg, Pascal Guenel, Per Hall, Ute Hamann, Wei He, Peter Hillemanns, Antoinette Hollestelle, Reiner Hoppe, John Hopper, Simona Jakovchevska, Anna Jakubowska, Helena Jernstrom, Esther John, Nichola Johnson, Michael Jones, Joseph Vijai, Rudolf Kaaks, Elza Khusnutdinova, Cari Kitahara, Stella Koutros, Vessela Kristensen, Allison W. Kurian, James Lacey, Diether Lambrechts, Loic Le Marchand, Flavio Lejbkowicz, Annika Lindblom, Sibylle Loibl, Adriana Lori, Jan Lubinski, Arto Mannermaa, Mehdi Manoochehri, Dimitrios Mavroudis, Usha Menon, AnnaMarie Mulligan, Rachel Murphy, Ines Nevelsteen, William G. Newman, Nadia Obi, Katie O'Brien, Ken Offit, Andrew Olshan, Dijana Plaseska-Karanfilska, Janet Olson, Salvatore Panico, Tjoung-Won Park-Simon, Alpa Patel, Paolo Peterlongo, Brigitte Rack, Paolo Radice, Gad Rennert, Valerie Rhenius, Atocha Romero, Emmanouil Saloustros, Dale Sandler, Marjanka K. Schmidt, Lukas Schwentner, Mitul Shah, Priyanka Sharma, Jacques Simard, Melissa Southey, Jennifer Stone, William J. Tapper, Jack Taylor, Lauren Teras, Amanda E. Toland, Melissa Troester, Therese Truong, Lizet E. van der Kolk, Clarice Weinberg, Camilla Wendt, Xiaohong Rose Yang, Wei Zheng, Argyrios Ziogas, Alison M. Dunning, Paul Pharoah, Douglas F. Easton, Shay Ben-Sachar, Naama Elefant, Ron Shamir, Ran Elkon

Summary: This study examined the performance of European-based breast cancer (BC) polygenic risk score (PRS) models in Ashkenazi Jewish (AJ) women. The results showed that the European-based PRS models can identify AJ women with significantly increased BC risk, offering potential improvement in BC risk assessment for this population.

JOURNAL OF MEDICAL GENETICS (2023)

添加到收藏夹

Article Genetics & Heredity

Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

Naomi J. Wilcox, Martine Dumont, Anna Gonzalez-Neira, Sara Carvalho, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, Penny Soucy, Stephane Dubois, Rocio K. Nunez-Torres, Guillermo E. Pita, Eugene Gardner, Joe Dennis, M. Rosario Alonso, Nuria alvarez, Caroline Baynes, Annie Claude Collin-Deschesnes, Sylvie Desjardins, Heiko Becher, Sabine Behrens, Manjeet Bolla, Jose Castelao, Jenny Chang-Claude, Sten Cornelissen, Thilo Doerk, Christoph Engel, Manuela Gago-Dominguez, Pascal Guenel, Andreas Hadjisavvas, Eric Hahnen, Mikael Hartman, Belen Herraez, Marion Kiechle, Jingmei A. SGBCC Investigators, Audrey Jung, Renske Keeman, Jingmei I. Li, Maria Loizidou, Michael Lush, Kyriaki P. Michailidou, Mihalis E. Panayiotidis, Xueling Sim, Soo Hwang Teo, Jonathan Tyrer, Lizet van der Kolk, Cecilia K. Wahlstrom, Qin K. Wang, John R. B. Perry, Javier Benitez, Marjanka M. Schmidt, Rita Schmutzler, Paul D. P. Pharoah, Arnaud F. Droit, Alison Dunning, Anders Kvist, Peter Devilee, Douglas Easton, Jacques Simard

Summary: A meta-analysis of three large whole-exome sequencing datasets revealed associations between protein-truncating and rare missense variants in several genes, including ATM, BRCA1, BRCA2, and MAP3K1, with breast cancer susceptibility. Additionally, associations were found for LZTR1, ATR, BARD1, and CDKN2A.

NATURE GENETICS (2023)

添加到收藏夹

Article Oncology

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

Anna Morra, Maartje A. C. Schreurs, Irene L. Andrulis, Hoda Anton-Culver, Annelie Augustinsson, Matthias W. Beckmann, Sabine Behrens, Stig E. Bojesen, Manjeet K. Bolla, Hiltrud Brauch, Annegien Broeks, Saundra S. Buys, Nicola J. Camp, Jose E. Castelao, Melissa H. Cessna, Jenny Chang-Claude, Wendy K. Chung, Sarah Colonna, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Joe Dennis, Peter Devilee, Thilo Doerk, Alison M. Dunning, Miriam Dwek, Douglas F. Easton, Diana M. Eccles, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Tanja N. Fehm, Jonine D. Figueroa, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat Garcia-Closas, Jose A. Garcia-Saenz, Jeanine A. Genkinger, Felix Grassmann, Melanie Guendert, Eric Hahnen, Christopher Haiman, Ute Hamann, Patricia A. Harrington, Jaana M. Hartikainen, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, Anna Jakubowska, Wolfgang Janni, Helena Jernstroem, Esther M. John, Nichola Johnson, Michael E. Jones, Vessela N. Kristensen, Allison Kurian, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Jan Lubinski, Michael P. Lux, Arto Mannermaa, Dimitrios Mavroudis, Anna Marie Mulligan, Taru A. Muranen, Heli Nevanlinna, Ines Nevelsteen, Patrick Neven, William G. Newman, Nadia Obi, Kenneth Offit, Andrew F. Olshan, Tjoung-Won Park-Simon, Alpa Patel, Paolo Peterlongo, Kelly-Anne Phillips, Dijana Plaseska-Karanfilska, Eric C. Polley, Nadege Presneau, Katri Pylkas, Brigitte Rack, Paolo Radice, Muhammad U. Rashid, Valerie Rhenius, Mark Robson, Atocha Romero, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Sabine Schuetze, Christopher Scott, Mitul T. Shah, Snezhana Smichkoska, Melissa C. Southey, William J. Tapper, Lauren R. Teras, Rob A. E. M. Tollenaar, Katarzyna Tomczyk, Ian Tomlinson, Melissa Troester, Celine Vachon, Elke van Veen, Qin Wang, Camilla Wendt, Hans Wildiers, Robert A. Winqvist, Argyrios Ziogas, Per Hall, Paul D. P. Pharoah, Muriel Adank, Antoinette Hollestelle, Marjanka K. Schmidt, Maartje Hooning

Summary: Breast cancer patients with the CHEK2 c.1100delC variant have an increased risk of contralateral breast cancer and worse survival. Systemic therapy is associated with reduced contralateral breast cancer risk, regardless of CHEK2 c.1100delC status. Patients with the CHEK2 c.1100delC variant have shorter survival, which is not fully explained by their contralateral breast cancer risk.

CANCER MEDICINE (2023)

添加到收藏夹

Article Oncology

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

Gisella Figlioli, Amandine K. Billaud, Qin Wang, Manjeet Bolla, Joe Dennis, Michael A. Lush, Anders U. Kvist, Muriel N. Adank, Thomas Ahearn, Natalia Antonenkova, Paeivi Auvinen, Sabine V. Behrens, Marina E. Bermisheva, Natalia Bogdanova, Stig Bojesen, Bernardo J. Bonanni, Thomas Bruening, Nicola E. Camp, Archie H. Campbell, Jose Castelao, Melissa Cessna, Kamila NBCS Collaborators, Kamila Czene, Peter A. Devilee, Thilo Doerk, Mikael Eriksson, Peter Fasching, Henrik Flyger, Marike Gabrielson, Manuela B. Gago-Dominguez, Montserrat Garcia-Closas, Gord Glendon, Encarna Gomez Garcia, Anna Gonzalez-Neira, Felix Grassmann, Pascal Guenel, Eric J. Hahnen, Ute Hamann, Peter Hillemanns, Maartje Hooning, Reiner Hoppe, Anthony K. Howell, Keith N. Humphreys, Elza kConFab Investigators, Anna A. Jakubowska, Elza Khusnutdinova, Vessela Kristensen, Annika Lindblom, Maria Loizidou, Jan G. Lubinski, Arto Mannermaa, Tabea I. Maurer, Dimitrios Mavroudis, William U. Newman, Nadia Obi, Mihalis Panayiotidis, Paolo Radice, Muhammad J. Rashid, Valerie K. Rhenius, Matthias K. Ruebner, Emmanouil Saloustros, Elinor C. Sawyer, Marjanka Schmidt, Rita Schmutzler, Mitul M. Shah, Melissa Southey, Ian R. Tomlinson, Therese Truong, Elke M. van Veen, Camilla Wendt, Xiaohong F. Yang, Kyriaki L. Michailidou, Alison Dunning, Paul D. P. Pharoah, Douglas Easton, Irene L. Andrulis, D. Gareth Evans, Antoinette Hollestelle, Jenny Chang-Claude, Roger Milne, Paolo Peterlongo

Summary: This study describes the geographic distribution of different FANCM mutations in breast cancer cases from Europe, USA, Canada, and Australia. The study found that certain FANCM mutations are more common in specific regions, such as FANCM:p.Gln1701* in Northern Europe and FANCM:p.Gly1906Alafs*12 in Southern Europe. These findings are important for developing efficient genetic testing strategies for specific populations.

CANCERS (2023)

添加到收藏夹

Article Virology

Association of two genomic variants with HPV type-specific risk of cervical cancer

Finja Seifert, Rieke Eisenblatter, Julia Beckmann, Peter Schuermann, Patricia Hanel, Matthias Jentschke, Gerd Bohmer, Hans-Georg Strauss, Christine Hirchenhain, Monika Schmidmayr, Florian Mueller, Peter Fasching, Alexander Luyten, Norman Hafner, Matthias Duerst, Ingo B. Runnebaum, Peter Hillemanns, Thilo Dork, Dhanya Ramachandran

Summary: This study found that rs9357152 was associated with HPV16-positive cervical cancer and rs4243652 was associated with HPV18-positive adenocarcinomas. Additionally, rs9357152 was found to regulate the expression of HLA-DRB1 in HPV-positive cervical tissues.

TUMOUR VIRUS RESEARCH (2023)

添加到收藏夹

暂无数据

© Peeref 2019-2024. All rights reserved.