HuGE Literature Finder
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| Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes. Annals of oncology : official journal of the European Society for Medical Oncology 2022 Sep . Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard J W, Barwell J, Berg J, Brady A F, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison P J, Paterson J, Porteous M, Rogers M T, Walker L, , Eccles D, Evans D G, Snape K, Hanson H, Houlston R S, Turnbull |
| A comprehensive literature review and meta-analysis of the prevalence of pan-cancer BRCA mutations, homologous recombination repair gene mutations, and homologous recombination deficiencies. Environmental and molecular mutagenesis 2022 Jul 63 (6): 308-316. Shao Changxia, Wan Jun, Lam Fred C, Tang Huilin, Marley Andrew R, Song Yiqing, Miller Chelsey, Brown Madeline, Han Jiali, Adeboyeje Gboye |
| Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients. Human heredity 2022 1 . Aksoy Fuat, Tezcan Unlu Havva, Cecener Gulsah, Guney Eskiler Gamze, Egeli Unal, Tunca Berrin, Efendi Erdem Ecem, Senol Kaz?m, Gokgoz Mustafa Sehsuv |
| Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition. Journal of human genetics 2022 1 67 (6): 339-345. Macquere P, Orazio S, Bonnet F, Jones N, Bubien V, Chiron J, Lafon D, Barouk-Simonet E, Tinat J, Venat-Bouvet L, Gesta P, Longy M, Sevenet |
| Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics. Frontiers in oncology 2022 12 709645. Yao Qianlan, Liu Yanhui, Zhang Lihua, Dong Lin, Bao Longlong, Bai Qianming, Cui Qian, Xu Jie, Li Min, Liu Jing, Chuai Shannon, Ying Jianming, Zhang Zhihong, Zhou Xiaoy |
| New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability. Genetic testing and molecular biomarkers 2022 1 26 (1): 17-25. Sahin Ibrahim, Saat Hani |
| Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation. Genes 2022 2 13 (2): . Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Albanese Luisa, Signoriello Giuseppe, Napoli Claudio, Molinari Anna Mar |
| Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jun . Woodward Emma R, van Veen Elke M, Forde Claire, Harkness Elaine F, Byers Helen J, Ellingford Jamie M, Burghel George J, Schlech Helene, Bowers Naomi L, Wallace Andrew J, Howell Sacha J, Howell Anthony, Lalloo Fiona, Newman William G, Smith Miriam J, Gareth Evans |
| The results of multigene panel sequencing in Slovak HBOC families. Neoplasma 2021 Mar . Konecny Michal, Kosova Klaudia, Tilandyova Petra, Wachsmannova Lenka, Baldovic Marian, Krajcovic Juraj, Patlevicova Andrea, Markus Jan, Ciernikova So |
| Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer. Cancers 2021 Jan 13 (1): . Lepkes Louisa, Kayali Mohamad, Blümcke Britta, Weber Jonas, Suszynska Malwina, Schmidt Sandra, Borde Julika, Klonowska Katarzyna, Wappenschmidt Barbara, Hauke Jan, Kozlowski Piotr, Schmutzler Rita K, Hahnen Eric, Ernst Corin |
| Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample. Cancer science 2021 1 112 (3): 1310-1319. Yoshida Reiko, Hagio Taichi, Kaneyasu Tomoko, Gotoh Osamu, Osako Tomo, Tanaka Norio, Amino Sayuri, Yaguchi Noriko, Nakashima Eri, Kitagawa Dai, Ueno Takayuki, Ohno Shinji, Nakajima Takeshi, Nakamura Seigo, Miki Yoshio, Hirota Toru, Takahashi Shunji, Matsuura Masaaki, Noda Tetsuo, Mori Seiic |
| Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer. Human mutation 2020 Dec . Felicio Paula S, Grasel Rebeca S, Campacci Natalia, de Paula Andre E, Galvão Henrique C R, Torrezan Giovana T, Sabato Cristina S, Fernandes Gabriela C, Souza Cristiano P, Michelli Rodrigo D, Andrade Carlos E, Barros Bruna Durães de Figueiredo, Matsushita Marcus M, Revil Timothée, Ragoussis Jiannis, Couch Fergus J, Hart Steven N, Reis Rui M, Melendez Matias E, Tonin Patricia N, Carraro Dirce M, Palmero Edenir |
| Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness. Military medicine 2020 . Lovejoy Leann A, Turner Clesson E, Shriver Craig D, Ellsworth Rachel |
| Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer. Cancer science 2020 Aug . Ryu Jin-Sun, Lee Hye-Young, Cho Eun Hae, Yoon Kyong-Ah, Kim Min-Kyeong, Joo Jungnam, Lee Eun-Sook, Kang Han-Sung, Lee Seeyoun, Lee Dong Ock, Lim Myong Cheol, Kong Sun-You |
| A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection. Journal of translational medicine 2020 Jun 18 (1): 232. Velázquez Carolina, Lastra Enrique, Avila Cobos Francisco, Abella Luis, de la Cruz Virginia, Hernando Blanca Ascensión, Hernández Lara, Martínez Noemí, Infante Mar, Durán Merced |
| 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 |
| Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population. BMC medical genomics 2020 Feb 13 (1): 21. da Costa E Silva Carvalho Simone, Cury Nathalia Moreno, Brotto Danielle Barbosa, de Araujo Luiza Ferreira, Rosa Reginaldo Cruz Alves, Texeira Lorena Alves, Plaça Jessica Rodrigues, Marques Adriana Aparecida, Peronni Kamila Chagas, Ruy Patricia de Cássia, Molfetta Greice Andreotti, Moriguti Julio Cesar, Carraro Dirce Maria, Palmero Edenir Inêz, Ashton-Prolla Patricia, de Faria Ferraz Victor Evangelista, Silva Wilson Arau |
| 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 |
| Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients. Clinical biochemistry 2019 Nov . Rodríguez-Balada Marta, Roig Bàrbara, Melé Mireia, Albacar Cinta, Serrano Sara, Salvat Mònica, Querol Montserrat, Borràs Joan, Martorell Lourdes, Gumà Jos |
| Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study. Journal of ovarian research 2019 Aug 12 (1): 80. Li Wenhui, Shao Di, Li Lei, Wu Ming, Ma Shuiqing, Tan Xianjie, Zhong Sen, Guo Fengming, Wang Zhe, Ye Mingz |
| Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort. Swiss medical weekly 2019 Aug 149 w20092. Kraemer Dennis, Azzarello-Burri Silvia, Steindl Katharina, Boonsawat Paranchai, Zweier Markus, Dedes Konstantin J, Joset Pascal, Fink Daniel, Rauch Ani |
| 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 deleterious germline CHEK2 mutations and their association with breast and ovarian cancer. International journal of cancer 2019 May . Kleiblova Petra, Stolarova Lenka, Krizova Katerina, Lhota Filip, Hojny Jan, Zemankova Petra, Havranek Ondrej, Vocka Michal, Cerna Marta, Lhotova Klara, Borecka Marianna, Janatova Marketa, Soukupova Jana, Sevcik Jan, Zimovjanova Martina, Kotlas Jaroslav, Panczak Ales, Vesela Kamila, Cervenkova Jana, Schneiderova Michaela, Burocziova Monika, Burdova Kamila, Stranecky Viktor, Foretova Lenka, Machackova Eva, Tavandzis Spiros, Kmoch Stanislav, Macurek Libor, Kleibl Zden |
| Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels. International journal of cancer 2019 Mar . Feliubadaló Lídia, López-Fernández Adrià, Pineda Marta, Díez Orland, Del Valle Jesús, Gutiérrez-Enríquez Sara, Teulé Alex, González Sara, Stjepanovic Neda, Salinas Mónica, Capellá Gabriel, Brunet Joan, Lázaro Conxi, Balmaña Judith, |
| Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients. International journal of cancer 2019 Mar . Nurmi Anna, Muranen Taru A, Pelttari Liisa M, Kiiski Johanna I, Heikkinen Tuomas, Lehto Sini, Kallioniemi Anne, Schleutker Johanna, Bützow Ralf, Blomqvist Carl, Aittomäki Kristiina, Nevanlinna He |
| Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia. Journal of human genetics 2019 Jan . Krivokuca Ana, Boljevic Ivana, Jovandic Stevo, Magic Zvonko, Mandic Aljosa, Tomasevic Zorica, Brankovic-Magic Mirja |
| Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 32 (Supplementum2): 72-78. Soukupová Jana, Lhotová Klára, Zemánková Petra, Vocka Michal, Janatová Markéta, Stolarová Lenka, Borecká Marianna, Kleiblová Petra, Machácková Eva, Foretová Lenka, Koudová Monika, Lhota Filip, Tavandzis Spiros, Zikán Michal, Stránecký Viktor, Veselá Kamila, Panczak Aleš, Kotlas Jaroslav, Kleibl Zden |
| Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients. Scientific reports 2019 12 9 (1): 19986. Jarhelle Elisabeth, Riise Stensland Hilde Monica Frostad, Hansen Geir Åsmund Myge, Skarsfjord Siri, Jonsrud Christoffer, Ingebrigtsen Monica, Strømsvik Nina, Van Ghelue Marij |
| Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients. Cancers 2018 Nov 10 (11): . Koczkowska Magdalena, Krawczynska Natalia, Stukan Maciej, Kuzniacka Alina, Brozek Izabela, Sniadecki Marcin, Debniak Jaroslaw, Wydra Dariusz, Biernat Wojciech, Kozlowski Piotr, Limon Janusz, Wasag Bartosz, Ratajska Magdale |
| Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. International journal of cancer 2018 Oct . Girard Elodie, Eon-Marchais Séverine, Olaso Robert, Renault Anne-Laure, Damiola Francesca, Dondon Marie-Gabrielle, Barjhoux Laure, Goidin Didier, Meyer Vincent, Le Gal Dorothée, Beauvallet Juana, Mebirouk Noura, Lonjou Christine, Coignard Juliette, Marcou Morgane, Cavaciuti Eve, Baulard Céline, Bihoreau Marie-Thérèse, Cohen-Haguenauer Odile, Leroux Dominique, Penet Clotilde, Fert-Ferrer Sandra, Colas Chrystelle, Frebourg Thierry, Eisinger François, Adenis Claude, Fajac Anne, Gladieff Laurence, Tinat Julie, Floquet Anne, Chiesa Jean, Giraud Sophie, Mortemousque Isabelle, Soubrier Florent, Audebert-Bellanger Séverine, Limacher Jean-Marc, Lasset Christine, Lejeune-Dumoulin Sophie, Dreyfus Hélène, Bignon Yves-Jean, Longy Michel, Pujol Pascal, Venat-Bouvet Laurence, Bonadona Valérie, Berthet Pascaline, Luporsi Elisabeth, Maugard Christine M, Noguès Catherine, Delnatte Capucine, Fricker Jean-Pierre, Gesta Paul, Faivre Laurence, Lortholary Alain, Buecher Bruno, Caron Olivier, Gauthier-Villars Marion, Coupier Isabelle, Servant Nicolas, Boland Anne, Mazoyer Sylvie, Deleuze Jean-François, Stoppa-Lyonnet Dominique, Andrieu Nadine, Lesueur Fabien |
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- Page last updated:Feb 03, 2023
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