HuGE Literature Finder
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| Estimating the proportion of pathogenic variants from breast cancer case-control data: application to calibration of ACMG/AMP variant classification criteria. Human mutation 2022 Feb . James Paul A, Fortuno Cristina, Li Na, Lim Belle W X, Campbell Ian G, Spurdle Amanda |
| Exploratory analysis of biomarkers associated with clinical outcomes from the study of palbociclib plus endocrine therapy in premenopausal women with hormone receptor-positive, HER2-negative metastatic breast cancer. Breast (Edinburgh, Scotland) 2022 Jan 62 52-60. Lee Soohyeon, Park Kyunghee, Kim Gun Min, Jung Kyung Hae, Kang Seok Yun, Park In Hae, Kim Jee Hyun, Ahn Hee Kyung, Park Woong-Yang, Im Seock-Ah, Park Yeon H |
| Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes. JAMA oncology 2022 Jan . , Mavaddat Nasim, Dorling Leila, Carvalho Sara, Allen Jamie, González-Neira Anna, Keeman Renske, Bolla Manjeet K, Dennis Joe, Wang Qin, Ahearn Thomas U, Andrulis Irene L, Beckmann Matthias W, Behrens Sabine, Benitez Javier, Bermisheva Marina, Blomqvist Carl, Bogdanova Natalia V, Bojesen Stig E, Briceno Ignacio, Brüning Thomas, Camp Nicola J, Campbell Archie, Castelao Jose E, Chang-Claude Jenny, Chanock Stephen J, Chenevix-Trench Georgia, Christiansen Hans, Czene Kamila, Dörk Thilo, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine D, Flyger Henrik, Gabrielson Marike, Gago-Dominguez Manuela, Geisler Jürgen, Giles Graham G, Guénel Pascal, Hadjisavvas Andreas, Hahnen Eric, Hall Per, Hamann Ute, Hartikainen Jaana M, Hartman Mikael, Hoppe Reiner, Howell Anthony, Jakubowska Anna, Jung Audrey, Khusnutdinova Elza K, Kristensen Vessela N, Li Jingmei, Lim Swee Ho, Lindblom Annika, Loizidou Maria A, Lophatananon Artitaya, Lubinski Jan, Madsen Michael J, Mannermaa Arto, Manoochehri Mehdi, Margolin Sara, Mavroudis Dimitrios, Milne Roger L, Mohd Taib Nur Aishah, Morra Anna, Muir Kenneth, Obi Nadia, Osorio Ana, Park-Simon Tjoung-Won, Peterlongo Paolo, Radice Paolo, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Shah Mitul, Sim Xueling, Southey Melissa C, Thorne Heather, Tomlinson Ian, Torres Diana, Truong Thérèse, Yip Cheng Har, Spurdle Amanda B, Vreeswijk Maaike P G, Dunning Alison M, García-Closas Montserrat, Pharoah Paul D P, Kvist Anders, Muranen Taru A, Nevanlinna Heli, Teo Soo Hwang, Devilee Peter, Schmidt Marjanka K, Easton Douglas |
| Germline breast cancer susceptibility genes, tumor characteristics, and survival. Genome medicine 2021 Dec 13 (1): 185. Ho Peh Joo, Khng Alexis J, Loh Hui Wen, Ho Weang-Kee, Yip Cheng Har, Mohd-Taib Nur Aishah, Tan Veronique Kiak Mien, Tan Benita Kiat-Tee, Tan Su-Ming, Tan Ern Yu, Lim Swee Ho, Jamaris Suniza, Sim Yirong, Wong Fuh Yong, Ngeow Joanne, Lim Elaine Hsuen, Tai Mei Chee, Wijaya Eldarina Azfar, Lee Soo Chin, Chan Ching Wan, Buhari Shaik Ahmad, Chan Patrick M Y, Chen Juliana J C, Seah Jaime Chin Mui, Lee Wai Peng, Mok Chi Wei, Lim Geok Hoon, Woo Evan, Kim Sung-Won, Lee Jong Won, Lee Min Hyuk, Park Sue K, Dunning Alison M, Easton Douglas F, Schmidt Marjanka K, Teo Soo-Hwang, Li Jingmei, Hartman Mika |
| Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination. NPJ breast cancer 2021 Oct 7 (1): 135. Setton Jeremy, Selenica Pier, Mukherjee Semanti, Shah Rachna, Pecorari Isabella, McMillan Biko, Pei Isaac X, Kemel Yelena, Ceyhan-Birsoy Ozge, Sheehan Margaret, Tkachuk Kaitlyn, Brown David N, Zhang Liying, Cadoo Karen, Powell Simon, Weigelt Britta, Robson Mark, Riaz Nadeem, Offit Kenneth, Reis-Filho Jorge S, Mandelker Dia |
| A Population-Based Study of Genes Previously Implicated in Breast Cancer. The New England journal of medicine 2021 Jan . Hu Chunling, Hart Steven N, Gnanaolivu Rohan, Huang Hongyan, Lee Kun Y, Na Jie, Gao Chi, Lilyquist Jenna, Yadav Siddhartha, Boddicker Nicholas J, Samara Raed, Klebba Josh, Ambrosone Christine B, Anton-Culver Hoda, Auer Paul, Bandera Elisa V, Bernstein Leslie, Bertrand Kimberly A, Burnside Elizabeth S, Carter Brian D, Eliassen Heather, Gapstur Susan M, Gaudet Mia, Haiman Christopher, Hodge James M, Hunter David J, Jacobs Eric J, John Esther M, Kooperberg Charles, Kurian Allison W, Le Marchand Loic, Lindstroem Sara, Lindstrom Tricia, Ma Huiyan, Neuhausen Susan, Newcomb Polly A, O'Brien Katie M, Olson Janet E, Ong Irene M, Pal Tuya, Palmer Julie R, Patel Alpa V, Reid Sonya, Rosenberg Lynn, Sandler Dale P, Scott Christopher, Tamimi Rulla, Taylor Jack A, Trentham-Dietz Amy, Vachon Celine M, Weinberg Clarice, Yao Song, Ziogas Argyrios, Weitzel Jeffrey N, Goldgar David E, Domchek Susan M, Nathanson Katherine L, Kraft Peter, Polley Eric C, Couch Fergus |
| Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. The New England journal of medicine 2021 Jan . , Dorling Leila, Carvalho Sara, Allen Jamie, González-Neira Anna, Luccarini Craig, Wahlström Cecilia, Pooley Karen A, Parsons Michael T, Fortuno Cristina, Wang Qin, Bolla Manjeet K, Dennis Joe, Keeman Renske, Alonso M Rosario, Álvarez Nuria, Herraez Belen, Fernandez Victoria, Núñez-Torres Rocio, Osorio Ana, Valcich Jeanette, Li Minerva, Törngren Therese, Harrington Patricia A, Baynes Caroline, Conroy Don M, Decker Brennan, Fachal Laura, Mavaddat Nasim, Ahearn Thomas, Aittomäki Kristiina, Antonenkova Natalia N, Arnold Norbert, Arveux Patrick, Ausems Margreet G E M, Auvinen Päivi, Becher Heiko, Beckmann Matthias W, Behrens Sabine, Bermisheva Marina, Bialkowska Katarzyna, Blomqvist Carl, Bogdanova Natalia V, Bogdanova-Markov Nadja, Bojesen Stig E, Bonanni Bernardo, Børresen-Dale Anne-Lise, Brauch Hiltrud, Bremer Michael, Briceno Ignacio, Brüning Thomas, Burwinkel Barbara, Cameron David A, Camp Nicola J, Campbell Archie, Carracedo Angel, Castelao Jose E, Cessna Melissa H, Chanock Stephen J, Christiansen Hans, Collée J Margriet, Cordina-Duverger Emilie, Cornelissen Sten, Czene Kamila, Dörk Thilo, Ekici Arif B, Engel Christoph, Eriksson Mikael, Fasching Peter A, Figueroa Jonine, Flyger Henrik, Försti Asta, Gabrielson Marike, Gago-Dominguez Manuela, Georgoulias Vassilios, Gil Fabian, Giles Graham G, Glendon Gord, Garcia Encarna B Gómez, Alnæs Grethe I Grenaker, Guénel Pascal, Hadjisavvas Andreas, Haeberle Lothar, Hahnen Eric, Hall Per, Hamann Ute, Harkness Elaine F, Hartikainen Jaana M, Hartman Mikael, He Wei, Heemskerk-Gerritsen Bernadette A M, Hillemanns Peter, Hogervorst Frans B L, Hollestelle Antoinette, Ho Weang Kee, Hooning Maartje J, Howell Anthony, Humphreys Keith, Idris Faiza, Jakubowska Anna, Jung Audrey, Kapoor Pooja Middha, Kerin Michael J, Khusnutdinova Elza, Kim Sung-Won, Ko Yon-Dschun, Kosma Veli-Matti, Kristensen Vessela N, Kyriacou Kyriacos, Lakeman Inge M M, Lee Jong Won, Lee Min Hyuk, Li Jingmei, Lindblom Annika, Lo Wing-Yee, Loizidou Maria A, Lophatananon Artitaya, Lubinski Jan, MacInnis Robert J, Madsen Michael J, Mannermaa Arto, Manoochehri Mehdi, Manoukian Siranoush, Margolin Sara, Martinez Maria Elena, Maurer Tabea, Mavroudis Dimitrios, McLean Catriona, Meindl Alfons, Mensenkamp Arjen R, Michailidou Kyriaki, Miller Nicola, Mohd Taib Nur Aishah, Muir Kenneth, Mulligan Anna Marie, Nevanlinna Heli, Newman William G, Nordestgaard Børge G, Ng Pei-Sze, Oosterwijk Jan C, Park Sue K, Park-Simon Tjoung-Won, Perez Jose I A, Peterlongo Paolo, Porteous David J, Prajzendanc Karolina, Prokofyeva Darya, Radice Paolo, Rashid Muhammad U, Rhenius Valerie, Rookus Matti A, Rüdiger Thomas, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Schneeweiss Andreas, Schürmann Peter, Shah Mitul, Sohn Christof, Southey Melissa C, Surowy Harald, Suvanto Maija, Thanasitthichai Somchai, Tomlinson Ian, Torres Diana, Truong Thérèse, Tzardi Maria, Valova Yana, van Asperen Christi J, Van Dam Rob M, van den Ouweland Ans M W, van der Kolk Lizet E, van Veen Elke M, Wendt Camilla, Williams Justin A, Yang Xiaohong R, Yoon Sook-Yee, Zamora M Pilar, Evans D Gareth, de la Hoya Miguel, Simard Jacques, Antoniou Antonis C, Borg Åke, Andrulis Irene L, Chang-Claude Jenny, García-Closas Montserrat, Chenevix-Trench Georgia, Milne Roger L, Pharoah Paul D P, Schmidt Marjanka K, Spurdle Amanda B, Vreeswijk Maaike P G, Benitez Javier, Dunning Alison M, Kvist Anders, Teo Soo H, Devilee Peter, Easton Douglas |
| Breast cancer associated pathogenic variants among women 61?years and older with triple negative breast cancer. Journal of geriatric oncology 2020 Dec . Chávarri-Guerra Yanin, Marcum Catherine A, Hendricks Carolyn B, Wilbur Deborah, Cescon Terrence, Hake Christopher, Abugattas Julio, Rodriguez Yenni, Villarreal-Garza Cynthia, Yang Kai, Cervantes Aleck, Sand Sharon, Castillo Danielle, Herzog Joseph, Mokhnatkin Janet, Sedrak Mina S, Soto-Perez-de-Celis Enrique, Weitzel Jeffrey |
| Rare Germline Genetic Variants and the Risks of Epithelial Ovarian Cancer. Cancers 2020 Oct 12 (10): . Pavanello Marina, Chan Isaac Hy, Ariff Amir, Pharoah Paul Dp, Gayther Simon A, Ramus Susan |
| Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2. Cancers 2020 Aug 12 (9): . Fanale Daniele, Incorvaia Lorena, Filorizzo Clarissa, Bono Marco, Fiorino Alessia, Calò Valentina, Brando Chiara, Corsini Lidia Rita, Barraco Nadia, Badalamenti Giuseppe, Russo Antonio, Bazan Vivia |
| Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis. Breast cancer research and treatment 2020 Jun . Alter Blanche P, Best Ana |
| Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer. Aging 2020 Feb 12 . Chen Bo, Zhang Guochun, Li Xuerui, Ren Chongyang, Wang Yulei, Li Kai, Mok Hsiaopei, Cao Li, Wen Lingzhu, Jia Minghan, Li Cheukfai, Guo Liping, Wei Guangnan, Lin Jiali, Li Yingzi, Zhang Yuchen, Han-Zhang Han, Liu Jing, Lizaso Analyn, Liao Ni |
| The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort. Journal of the National Cancer Institute 2020 Feb . Hu Chunling, Polley Eric C, Yadav Siddhartha, Lilyquist Jenna, Shimelis Hermela, Na Jie, Hart Steven N, Goldgar David E, Shah Swati, Pesaran Tina, Dolinsky Jill S, LaDuca Holly, Couch Fergus |
| Association Between Polymorphisms in DNA Damage Repair Genes and Radiation Therapy-Induced Early Adverse Skin Reactions in a Breast Cancer Population: A Polygenic Risk Score Approach. International journal of radiation oncology, biology, physics 2020 Jan . Lee Eunkyung, Eum Sung Y, Slifer Susan H, Martin Eden R, Takita Cristiane, Wright Jean L, Hines Robert B, Hu Jennifer |
| Rad51 paralogs and the risk of unselected breast cancer: A case-control study. PloS one 2020 15 (1): e0226976. Grešner Peter, Jablonska Ewa, Gromadzinska Jolan |
| Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer. World journal of clinical oncology 2019 Nov 10 (11): 358-368. Manchana Tarinee, Phowthongkum Prasit, Teerapakpinyo Chinacho |
| One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene. Journal of medical genetics 2019 Jul . Fostira Florentia, Kostantopoulou Irene, Apostolou Paraskevi, Papamentzelopoulou Myrto S, Papadimitriou Christos, Faliakou Eleni, Christodoulou Christos, Boukovinas Ioannis, Razis Evangelia, Tryfonopoulos Dimitrios, Barbounis Vasileios, Vagena Andromache, Vlachos Ioannis S, Kalfakakou Despoina, Fountzilas George, Yannoukakos Drakoul |
| Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer. Cancer 2019 Jun . Weitzel Jeffrey N, Neuhausen Susan L, Adamson Aaron, Tao Shu, Ricker Charité, Maoz Asaf, Rosenblatt Margalit, Nehoray Bita, Sand Sharon, Steele Linda, Unzeitig Gary, Feldman Nancy, Blanco Amie M, Hu Donglei, Huntsman Scott, Castillo Danielle, Haiman Christopher, Slavin Thomas, Ziv El |
| Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. BMC cancer 2019 Apr 19 (1): 313. Shahi Rajendra Bahadur, De Brakeleer Sylvia, Caljon Ben, Pauwels Ingrid, Bonduelle Maryse, Joris Sofie, Fontaine Christel, Vanhoeij Marian, Van Dooren Sonia, Teugels Erik, De Grève Jacqu |
| Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes. Gynecologic oncology 2019 Feb . Suszynska Malwina, Klonowska Katarzyna, Jasinska Anna J, Kozlowski Pio |
| Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria. BMC cancer 2018 Sep 18 (1): 926. Hoyer Juliane, Vasileiou Georgia, Uebe Steffen, Wunderle Marius, Kraus Cornelia, Fasching Peter A, Thiel Christian T, Hartmann Arndt, Beckmann Matthias W, Lux Michael P, Reis And |
| Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing. JAMA oncology 2018 Aug . Lu Hsiao-Mei, Li Shuwei, Black Mary Helen, Lee Shela, Hoiness Robert, Wu Sitao, Mu Wenbo, Huether Robert, Chen Jefferey, Sridhar Srijani, Tian Yuan, McFarland Rachel, Dolinsky Jill, Tippin Davis Brigette, Mexal Sharon, Dunlop Charles, Elliott Aar |
| 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. Cancer medicine 2018 Mar . Hauke Jan, Horvath Judit, Groß Eva, Gehrig Andrea, Honisch Ellen, Hackmann Karl, Schmidt Gunnar, Arnold Norbert, Faust Ulrike, Sutter Christian, Hentschel Julia, Wang-Gohrke Shan, Smogavec Mateja, Weber Bernhard H F, Weber-Lassalle Nana, Weber-Lassalle Konstantin, Borde Julika, Ernst Corinna, Altmüller Janine, Volk Alexander E, Thiele Holger, Hübbel Verena, Nürnberg Peter, Keupp Katharina, Versmold Beatrix, Pohl Esther, Kubisch Christian, Grill Sabine, Paul Victoria, Herold Natalie, Lichey Nadine, Rhiem Kerstin, Ditsch Nina, Ruckert Christian, Wappenschmidt Barbara, Auber Bernd, Rump Andreas, Niederacher Dieter, Haaf Thomas, Ramser Juliane, Dworniczak Bernd, Engel Christoph, Meindl Alfons, Schmutzler Rita K, Hahnen Er |
| High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population. Hereditary cancer in clinical practice 2018 16 12. Maksimenko J, Irmejs A, Trofimovi?s G, B?rzi?a D, Skuja E, Purkalne G, Miklaševi?s E, Gardovskis |
| Use of deep whole-genome sequencing data to identify structure risk variants in breast cancer susceptibility genes. Human molecular genetics 2018 03 27 (5): 853-859. Guo Xingyi, Shi Jiajun, Cai Qiuyin, Shu Xiao-Ou, He Jing, Wen Wanqing, Allen Jamie, Pharoah Paul, Dunning Alison, Hunter David J, Kraft Peter, Easton Douglas F, Zheng Wei, Long Jiro |
| Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers. European journal of human genetics : EJHG 2017 Dec 25 (12): 1345-1353. Golmard Lisa, Castéra Laurent, Krieger Sophie, Moncoutier Virginie, Abidallah Khadija, Tenreiro Henrique, Laugé Anthony, Tarabeux Julien, Millot Gael A, Nicolas André, Laé Marick, Abadie Caroline, Berthet Pascaline, Polycarpe Florence, Frébourg Thierry, Elan Camille, de Pauw Antoine, Gauthier-Villars Marion, Buecher Bruno, Stern Marc-Henri, Stoppa-Lyonnet Dominique, Vaur Dominique, Houdayer Clau |
| CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population. BMC cancer 2017 Sep 17 (1): 620. Hallamies Sanna, Pelttari Liisa M, Poikonen-Saksela Paula, Jekunen Antti, Jukkola-Vuorinen Arja, Auvinen Päivi, Blomqvist Carl, Aittomäki Kristiina, Mattson Johanna, Nevanlinna He |
| Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations. Cancer science 2017 Aug . Sato Katsutoshi, Koyasu Mio, Nomura Sachio, Sato Yuri, Kita Mizuho, Ashihara Yuumi, Adachi Yasue, Ohno Shinji, Iwase Takuji, Kitagawa Dai, Nakashima Eri, Yoshida Reiko, Miki Yoshio, Arai Masa |
| Clinical and genetic characterization of hereditary breast cancer in a Chinese population. Hereditary cancer in clinical practice 2017 15 19. Jian Wenjing, Shao Kang, Qin Qi, Wang Xiaohong, Song Shufen, Wang Xianmi |
| The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. PloS one 2017 12 (9): e0185615. Sung Pi-Lin, Wen Kuo-Chang, Chen Yi-Jen, Chao Ta-Chung, Tsai Yi-Fang, Tseng Ling-Ming, Qiu Jian-Tai Timothy, Chao Kuan-Chong, Wu Hua-Hsi, Chuang Chi-Mu, Wang Peng-Hui, Huang Chi-Ying |
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- Page last updated:May 25, 2022
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