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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 |
| Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer. Journal of the National Cancer Institute 2022 Aug . Kratz Christian P, Smirnov Dmitrii, Autry Robert, Jäger Natalie, Waszak Sebastian M, Großhennig Anika, Berutti Riccardo, Wendorff Mareike, Hainaut Pierre, Pfister Stefan M, Prokisch Holger, Ripperger Tim, Malkin Dav |
| Targeted Sequencing of Plasma-Derived vs. Urinary cfDNA from Patients with Triple-Negative Breast Cancer. Cancers 2022 Aug 14 (17): . Herzog Henrike, Dogan Senol, Aktas Bahriye, Nel Ivon |
| 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 |
| Breast cancer risk in women from Ghana carrying rare germline pathogenic mutations. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 Jun . Ahearn Thomas U, Pal Choudhury Parichoy, Derkach Andriy, Wiafe-Addai Beatrice, Awuah Baffour, Yarney Joel, Edusei Lawrence, Titiloye Nicolas, Adjei Ernest, Vanderpuye Verna, Aitpillah Francis, Dedey Florence, Oppong Joseph, Osei-Bonsu Ernest Baawuah, Duggan Maire A, Brinton Louise A, Allen Jamie, Luccarini Craig, Baynes Caroline, Carvalho Sara, Dunning Alison M, Davis Lynn Brittny C, Chanock Stephen J, Hicks Belynda D, Yeager Meredith, Chatterjee Nilanjan, Biritwum Richard, Clegg-Lamptey Joe Nat, Nyarko Kofi, Wiafe Seth, Ansong Daniel, Easton Douglas F, Figueroa Jonine D, Garcia-Closas Montserr |
| Breast cancer risks associated with missense variants in breast cancer susceptibility genes. Genome medicine 2022 May 14 (1): 51. Dorling Leila, Carvalho Sara, Allen Jamie, Parsons Michael T, Fortuno Cristina, González-Neira Anna, Heijl Stephan M, Adank Muriel A, Ahearn Thomas U, Andrulis Irene L, Auvinen Päivi, Becher Heiko, Beckmann Matthias W, Behrens Sabine, Bermisheva Marina, Bogdanova Natalia V, Bojesen Stig E, Bolla Manjeet K, Bremer Michael, Briceno Ignacio, Camp Nicola J, Campbell Archie, Castelao Jose E, Chang-Claude Jenny, Chanock Stephen J, Chenevix-Trench Georgia, , Collée J Margriet, Czene Kamila, Dennis Joe, Dörk Thilo, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine, Flyger Henrik, Gabrielson Marike, Gago-Dominguez Manuela, García-Closas Montserrat, Giles Graham G, Glendon Gord, Guénel Pascal, Gündert Melanie, Hadjisavvas Andreas, Hahnen Eric, Hall Per, Hamann Ute, Harkness Elaine F, Hartman Mikael, Hogervorst Frans B L, Hollestelle Antoinette, Hoppe Reiner, Howell Anthony, , , Jakubowska Anna, Jung Audrey, Khusnutdinova Elza, Kim Sung-Won, Ko Yon-Dschun, Kristensen Vessela N, Lakeman Inge M M, Li Jingmei, Lindblom Annika, Loizidou Maria A, Lophatananon Artitaya, Lubi?ski Jan, Luccarini Craig, Madsen Michael J, Mannermaa Arto, Manoochehri Mehdi, Margolin Sara, Mavroudis Dimitrios, Milne Roger L, Mohd Taib Nur Aishah, Muir Kenneth, Nevanlinna Heli, Newman William G, Oosterwijk Jan C, Park Sue K, Peterlongo Paolo, Radice Paolo, Saloustros Emmanouil, Sawyer Elinor J, Schmutzler Rita K, Shah Mitul, Sim Xueling, Southey Melissa C, Surowy Harald, Suvanto Maija, Tomlinson Ian, Torres Diana, Truong Thérèse, van Asperen Christi J, Waltes Regina, Wang Qin, Yang Xiaohong R, Pharoah Paul D P, Schmidt Marjanka K, Benitez Javier, Vroling Bas, Dunning Alison M, Teo Soo Hwang, Kvist Anders, de la Hoya Miguel, Devilee Peter, Spurdle Amanda B, Vreeswijk Maaike P G, Easton Douglas |
| Concurrent BRAFV600E and BRCA Mutations in MSS Metastatic Colorectal Cancer: Prevalence and Case Series of mCRC patients with prolonged OS. Cancer treatment and research communications 2022 Apr 32 100569. Cannon Timothy Lewis, Randall Jamie N, Sokol Ethan S, Alexander Sonja M, Wadlow Raymond C, Winer Arthur A, Barnett Daniel M, Rayes Danny L, Nimeiri Halla S, McGregor Kimberly |
| 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 |
| Risk of Second Primary Thyroid Cancer in Women with Breast Cancer. Cancers 2022 Feb 14 (4): . Cieszy?ska Monika, Klu?niak Wojciech, Woko?orczyk Dominika, Cybulski Cezary, Huzarski Tomasz, Gronwald Jacek, Falco Micha?, D?bniak Tadeusz, Jakubowska Anna, Derkacz Ró?a, Marciniak Wojciech, Lener Marcin, Woronko Karolina, Mocarz Dominika, Baszuk Piotr, Bry?kiewicz Marta, Narod Steven A, Lubi?ski J |
| CHEK2 mutations and papillary thyroid cancer: correlation or coincidence? Hereditary cancer in clinical practice 2022 Jan 20 (1): 5. Koen Kortbeek, Robin De Putter, Eline Nae |
| Molecular characteristics of young-onset colorectal cancer in Vietnamese patients. Asia-Pacific journal of clinical oncology 2022 Jan . Do Minh Duc, Nguyen Thinh Huu, Le Khuong Thai, Le Linh Hoang Gia, Nguyen Bac Hoang, Le Kien Trung, Doan Thao Phuong Thi, Ho Chuong Quoc, Nguyen Hoai-Nghia, Tran Tuan Diep, Vu Hoang A |
| 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 |
| PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~?200,000 patients. Breast cancer research : BCR 2022 10 24 (1): 69. Giardiello Daniele, Hooning Maartje J, Hauptmann Michael, Keeman Renske, Heemskerk-Gerritsen B A M, Becher Heiko, Blomqvist Carl, Bojesen Stig E, Bolla Manjeet K, Camp Nicola J, Czene Kamila, Devilee Peter, Eccles Diana M, Fasching Peter A, Figueroa Jonine D, Flyger Henrik, García-Closas Montserrat, Haiman Christopher A, Hamann Ute, Hopper John L, Jakubowska Anna, Leeuwen Floor E, Lindblom Annika, Lubi?ski Jan, Margolin Sara, Martinez Maria Elena, Nevanlinna Heli, Nevelsteen Ines, Pelders Saskia, Pharoah Paul D P, Siesling Sabine, Southey Melissa C, van der Hout Annemieke H, van Hest Liselotte P, Chang-Claude Jenny, Hall Per, Easton Douglas F, Steyerberg Ewout W, Schmidt Marjanka |
| Rare germline copy number variants (CNVs) and breast cancer risk. Communications biology 2022 01 5 (1): 65. Dennis Joe, Tyrer Jonathan P, Walker Logan C, Michailidou Kyriaki, Dorling Leila, Bolla Manjeet K, Wang Qin, Ahearn Thomas U, Andrulis Irene L, Anton-Culver Hoda, Antonenkova Natalia N, Arndt Volker, Aronson Kristan J, Freeman Laura E Beane, Beckmann Matthias W, Behrens Sabine, Benitez Javier, Bermisheva Marina, Bogdanova Natalia V, Bojesen Stig E, Brenner Hermann, Castelao Jose E, Chang-Claude Jenny, Chenevix-Trench Georgia, Clarke Christine L, , Collée J Margriet, , Couch Fergus J, Cox Angela, Cross Simon S, Czene Kamila, Devilee Peter, Dörk Thilo, Dossus Laure, Eliassen A Heather, Eriksson Mikael, Evans D Gareth, Fasching Peter A, Figueroa Jonine, Fletcher Olivia, Flyger Henrik, Fritschi Lin, Gabrielson Marike, Gago-Dominguez Manuela, García-Closas Montserrat, Giles Graham G, González-Neira Anna, Guénel Pascal, Hahnen Eric, Haiman Christopher A, Hall Per, Hollestelle Antoinette, Hoppe Reiner, Hopper John L, Howell Anthony, , , Jager Agnes, Jakubowska Anna, John Esther M, Johnson Nichola, Jones Michael E, Jung Audrey, Kaaks Rudolf, Keeman Renske, Khusnutdinova Elza, Kitahara Cari M, Ko Yon-Dschun, Kosma Veli-Matti, Koutros Stella, Kraft Peter, Kristensen Vessela N, Kubelka-Sabit Katerina, Kurian Allison W, Lacey James V, Lambrechts Diether, Larson Nicole L, Linet Martha, Ogrodniczak Alicja, Mannermaa Arto, Manoukian Siranoush, Margolin Sara, Mavroudis Dimitrios, Milne Roger L, Muranen Taru A, Murphy Rachel A, Nevanlinna Heli, Olson Janet E, Olsson Håkan, Park-Simon Tjoung-Won, Perou Charles M, Peterlongo Paolo, Plaseska-Karanfilska Dijana, Pylkäs Katri, Rennert Gad, Saloustros Emmanouil, Sandler Dale P, Sawyer Elinor J, Schmidt Marjanka K, Schmutzler Rita K, Shibli Rana, Smeets Ann, Soucy Penny, Southey Melissa C, Swerdlow Anthony J, Tamimi Rulla M, Taylor Jack A, Teras Lauren R, Terry Mary Beth, Tomlinson Ian, Troester Melissa A, Truong Thérèse, Vachon Celine M, Wendt Camilla, Winqvist Robert, Wolk Alicja, Yang Xiaohong R, Zheng Wei, Ziogas Argyrios, Simard Jacques, Dunning Alison M, Pharoah Paul D P, 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 |
| Lapses in breast cancer screening for highly penetrant mutation carriers during pregnancy and lactation. Journal of surgical oncology 2021 Dec . Chichura Anna, Hunt Jonathan, Lang Julie, Pederson Hol |
| Clinical and genomic features of SPOP-mutant prostate cancer. The Prostate 2021 Nov . Nakazawa Mari, Fang Mike, H Marshall Catherine, Lotan Tamara L, Isaacsson Velho Pedro, Antonarakis Emmanuel |
| Genomic Profiling Identified Prognostic Biomarkers of Definitive Chemo-Radiotherapy Response in Esophageal Carcinoma. International journal of radiation oncology, biology, physics 2021 Nov 111 (3S): S13. Li L, Yuan S, Sun J, Yin Y, Cui J, Zhang J, Chen Y, Pang J, Yin J, Shao Y, Yu |
| Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study. Clinical and translational gastroenterology 2021 Oct 12 (10): e00414. Uson Pedro L S, Samadder N Jewel, Riegert-Johnson Douglas, Boardman Lisa, Borad Mitesh J, Ahn Daniel, Sonbol Mohamad B, Faigel Douglas O, Fukami Norio, Pannala Rahul, Kunze Katie, Golafshar Michael, Klint Margaret, Esplin Edward D, Nussbaum Robert L, Stewart A Keith, Bekaii-Saab Tani |
| Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant. Familial cancer 2021 Oct . Laitman Yael, Nielsen Sarah M, Hatchell Kathryn E, Truty Rebecca, Bernstein-Molho Rinat, Esplin Edward D, Friedman Eit |
| Radiation Response Prediction Model based on Integrated Clinical and Genomic Data Analysis. Cancer research and treatment 2021 Aug . Jang Bum-Sup, Chang Ji-Hyun, Jeon Seung Hyuck, Song Myung Geun, Lee Kyung-Hun, Im Seock-Ah, Kim Jong-Il, Kim Tae-You, Chie Eui K |
| A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients. Scientific reports 2021 Jul 11 (1): 14763. Wendt Camilla, Muranen Taru A, Mielikäinen Lotta, Thutkawkorapin Jessada, Blomqvist Carl, Jiao Xiang, Ehrencrona Hans, Tham Emma, Arver Brita, Melin Beatrice, Kuchinskaya Ekaterina, Stenmark Askmalm Marie, Paulsson-Karlsson Ylva, Einbeigi Zakaria, von Wachenfeldt Väppling Anna, Kalso Eija, Tasmuth Tiina, Kallioniemi Anne, Aittomäki Kristiina, Nevanlinna Heli, Borg Åke, Lindblom Anni |
| Investigation of Hereditary Cancer Predisposition Genes of Patients with Colorectal Cancer: Single-centre Experience. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2021 Jul 30 (7): 811-816. Duzkale Neslihan, Oz Ozlem, Turkmenoglu Tugba Taskin, Cetinkaya Kadir, Eren Tulay, Yalcin Suay |
| 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 |
| Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study. NPJ breast cancer 2021 Jun 7 (1): 76. Li Na, Lim Belle W X, Thompson Ella R, McInerny Simone, Zethoven Magnus, Cheasley Dane, Rowley Simone M, Wong-Brown Michelle W, Devereux Lisa, Gorringe Kylie L, Sloan Erica K, Trainer Alison, Scott Rodney J, James Paul A, Campbell Ian |
| Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 Jun JCO2001992. Gao Chi, Polley Eric C, Hart Steven N, Huang Hongyan, Hu Chunling, Gnanaolivu Rohan, Lilyquist Jenna, Boddicker Nicholas J, Na Jie, Ambrosone Christine B, Auer Paul L, Bernstein Leslie, Burnside Elizabeth S, Eliassen A Heather, Gaudet Mia M, Haiman Christopher, Hunter David J, Jacobs Eric J, John Esther M, Lindström Sara, Ma Huiyan, Neuhausen Susan L, Newcomb Polly A, O'Brien Katie M, Olson Janet E, Ong Irene M, Patel Alpa V, Palmer Julie R, Sandler Dale P, Tamimi Rulla, Taylor Jack A, Teras Lauren R, Trentham-Dietz Amy, Vachon Celine M, Weinberg Clarice R, Yao Song, Weitzel Jeffrey N, Goldgar David E, Domchek Susan M, Nathanson Katherine L, Couch Fergus J, Kraft Pet |
| Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina. Cancers 2021 May 13 (11): . Solano Angela R, Mele Pablo G, Jalil Fernanda S, Liria Natalia C, Podesta Ernesto J, Gutiérrez Leandro |
| Plasma tumor gene conversions after one cycle abiraterone acetate for metastatic castration-resistant prostate cancer: a biomarker analysis of a multicenter international trial. Annals of oncology : official journal of the European Society for Medical Oncology 2021 Mar . Jayaram A, Wingate A, Wetterskog D, Wheeler G, Sternberg C N, Jones R, Berruti A, Lefresne F, Lahaye M, Thomas S, Gormley M, Meacham F, Garg K, Lim L P, Merseburger A S, Tombal B, Ricci D, Attard |
| Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma. JCO precision oncology 2021 5 . Kim Jung, Light Nicholas, Subasri Vallijah, Young Erin L, Wegman-Ostrosky Talia, Barkauskas Donald A, Hall David, Lupo Philip J, Patidar Rajesh, Maese Luke D, Jones Kristine, Wang Mingyi, Tavtigian Sean V, Wu Dongjing, Shlien Adam, Telfer Frank, Goldenberg Anna, Skapek Stephen X, Wei Jun S, Wen Xinyu, Catchpoole Daniel, Hawkins Douglas S, Schiffman Joshua D, Khan Javed, Malkin David, Stewart Douglas |
| Survival of bladder or renal cancer in patients with CHEK2 mutations. PloS one 2021 16 (9): e0257132. Z?owocka-Per?owska El?bieta, D?bniak Tadeusz, S?ojewski Marcin, van de Wetering Thierry, To?oczko-Grabarek Aleksandra, Cybulski Cezary, Scott Rodney J, Lubi?ski J |
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