Cummings, Margaret C.
https://orcid.org/0000-0002-7657-0240
Mayo Clinic
The University of Queensland
Citations 2
Association of the CHEK2 c. 1100delC variant, radiotherapy, and systemic treatment with contralateral b
Morra, Anna , Schreurs, Maartje A. C. , Andrulis, Irene L. , Anton‐Culver, Hoda , Beckmann, Matthias W. , Bolla, Manjeet K. , Camp, Nicola J. , Cessna, Melissa H., Chang‐Claude, Jenny , Collaborators, NBCS, Dörk, Thilo , Easton, Douglas F. , Eccles, Diana M., Evans, D. Gareth , Fasching, Peter A. , Flyger, Henrik, García‐Closas, Montserrat , Graßmann, Felix , Gündert, Melanie , Hahnen, Eric , Haiman, Christopher A. , Hamann, Ute, Harrington, Patricia, Hoppe, Reiner , Hopper, John L. , Houlston, Richard S. , Howell, Anthony, Investigators, ABCTB, Investigators, kConFab, Janni, Wolfgang, John, Esther M. , Johnson, Nichola , Jones, Michael E. , Kristensen, Vessela N. , Kurian, Allison W. , Lambrechts, Diether , Lindblom, Annika , Mannermaa, Arto, Mavroudis, Dimitrios, Muranen, Taru , Nevelsteen, Ines, Neven, Patrick , Newman, William G. , Obi, Nadia , Offit, Kenneth , Park‐Simon, Tjoung‐Won , Patel, Alpa V. , Peterlongo, Paolo , Phillips, Kelly‐Anne , Plaseska‐Karanfilska, Dijana , Rack, Brigitte , Rhenius, Valerie , Romero, Atocha , Sawyer, Elinor J. , Schmutzler, Rita K. , Schuetze, Sabine, Shah, Mitul , Smichkoska, Snezhana , Tollenaar, Rob A.�E.�M. , Tomlinson, Ian , Vachon, Celine M. , Veen, Elke M. van , Wang, Qin , Wendt, Camilla, Wildiers, Hans , Pharoah, Paul D.P. , Adank, Muriel A. , Hooning, Maartje J. , Howell, Anthony , Ramus, Susan J. , Bojesen, Stig E. , Eccles, Diana , Cummings, Margaret C. , Loi, Sherene , Lambrechts, Diether , Howell, Sacha J. , Bojesen, Stig E , Dörk, Thilo , Figueroa, Jonine D , Gabrielson, Marike , Gago-Dominguez, Manuela , García-Sáenz, José A , Hahnen, Eric , Hartikainen, Jaana M , Jernström, Helena , John, Esther M , Lambrechts, Diether , Muranen, Taru A , Nevanlinna, H , Patel, Alpa V , Pylkäs, Katri , Rashid, Muhammad U , Hooning, Maartje J. , Lambrechts, Diether , Peterlongo, Paolo , Ramus, Susan J , Pharoah, Paul D P , Eccles, Diana , Houlston, Richard S , Anton-Culver, Hoda , Evans, D Gareth , Jones, Michael E , Newman, William G , Romero, Atocha , García-Closas, Montserrat , Kurian, Allison W , Loi, Sherene , Bojesen, Stig E , Phillips, Kelly-Anne , Wildiers, Hans , Lindblom, Annika , Plaseska-Karanfilska, Dijana , Sawyer, Elinor J , Augustinsson, Annelie , Behrens, Sabine , Brauch, Hiltrud , Broeks, Annegien , Buys, Saundra S. , Castelao, Jose E. , Chung, Wendy K. , Collaborators, NBCS, Colonna, Sarah V. , Couch, Fergus J. , Cox, Angela , Cross, Simon S. , Czene, Kamila , Daly, Mary Beryl , Dennis, Joe , Devilee, Peter , Dunning, Alison M. , Dwek, Miriam , Eriksson, Mikael , Fehm, Tanja , Figueroa, Jonine D. , Gabrielson, Marike , Gago-Domínguez, Manuela , García-Sáenz, José Á. , Genkinger, Jeanine M. , Hartikainen, Jaana M. , Howell, Anthony, Investigators, ABCTB, Investigators, kConFab, Jakubowska, Anna , Jernström, Helena , Marchand, Loı̈c Le , Lubiński, Jan , Lux, Michael P. , Mannermaa, Arto, Mulligan, Anna Marie , Nevanlinna, Heli , Olshan, Andrew F. , Polley, Eric C. , Presneau, Nadège , Pylkäs, Katri , Radice, Paolo , Rashid, Muhammad Usman , Robson, Mark E. , Saloustros, Emmanouil , Scott, Christopher G. , Southey, Melissa C. , Tapper, William , Teras, Lauren R. , Tomczyk, Katarzyna , Troester, Melissa A. , Vachon, Celine M. , Winqvist, Robert , Ziogas, Argyrios , Hall, Per N , Hollestelle, Antoinette , Schmidt, Marjanka K.
Cancer Medicine | July 4, 2023 | Volume: 12 | Issue: 15 | Pages: 16142-16162
Abstract Background Breast cancer (BC) patients with a germline CHEK2 c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC‐specific survival (BCSS) compared to non‐carriers. Aim To assessed the associations of CHEK2 c.1100delC, radiotherapy, and systemic treatment with CBC risk and BCSS. Methods Analyses were based on 82,701 women diagnosed with a first primary invasive BC including 963 CHEK2 c.1100delC carriers; median follow‐up was 9.1 years. Differential associations with treatment by CHEK2 c.1100delC status were tested by including interaction terms in a multivariable Cox regression model. A multi‐state model was used for further insight into the relation between CHEK2 c.1100delC status, treatment, CBC risk and death. Results There was no evidence for differential associations of therapy with CBC risk by CHEK2 c.1100delC status. The strongest association with reduced CBC risk was observed for the combination of chemotherapy and endocrine therapy [HR (95% CI): 0.66 (0.55–0.78)]. No association was observed with radiotherapy. Results from the multi‐state model showed shorter BCSS for CHEK2 c.1100delC carriers versus non‐carriers also after accounting for CBC occurrence [HR (95% CI): 1.30 (1.09–1.56)]. Conclusion Systemic therapy was associated with reduced CBC risk irrespective of CHEK2 c.1100delC status. Moreover, CHEK2 c.1100delC carriers had shorter BCSS, which appears not to be fully explained by their CBC risk.
Lynch syndrome and cervical cancer
Antill, Yoland , Win, Aung Ko , Thompson, Tina , Walsh, Michael D. , Cummings, Margaret C. , Gallinger, Steven , Lindor, Noralane M. , Haile, Robert W. , Tucker, Katherine , Buchanan, Daniel D. , Young, Joanne , Winship, Ingrid , Jenkins, Mark A. , Tucker, Kathy , Dowty, James G. , Marchand, Loı̈c Le , Hopper, John L. , Newcomb, Polly A. , Church, James M. , Buchanan, Daniel D , Win, Aung K , Jenkins, Mark A , Haile, Robert W , Winship, Ingrid M
International Journal of Cancer | June 15, 2015 | Volume: 137 | Issue: 11 | Pages: 2757-2761
Carriers of germline mutations in DNA mismatch repair (MMR) genes are at increased risk of several cancers including colorectal and gynecologic cancers (Lynch syndrome). There is no substantial evidence that these mutations are associated with an increased risk of cervical cancer. A total of 369 families with at least one carrier of a mutation in a MMR gene (133 MLH1, 174 MSH2, 35 MSH6 and 27 PMS2) were ascertained via population cancer registries or via family cancer clinics in Australia, New Zealand, Canada, and USA. Personal and family histories of cancer were obtained from participant interviews. Modified segregation analysis was used to estimate the hazard ratio (incidence rates for carriers relative to those for the general population), and age‐specific cumulative risks of cervical cancer for carriers. A total of 65 cases of cervical cancer were reported (including 10 verified by pathology reports). The estimated incidence was 5.6 fold (95% CI: 2.3–13.8; p = 0.001) higher for carriers than for the general population with a corresponding cumulative risk to 80 years of 4.5% (95% CI: 1.9–10.7%) compared with 0.8% for the general population. The mean age at diagnosis was 43.1 years (95% CI: 40.0–46.2), 3.9 years younger than the reported USA population mean of 47.0 years (p = 0.02). Women with MMR gene mutations were found to have an increased risk of cervical cancer. Due to limited pathology verification we cannot be certain that a proportion of these cases were not lower uterine segment endometrial cancers involving the endocervix, a recognized cancer of Lynch syndrome.