scholarly journals Potential of Germline CDKN2A I49T as a Targetable Driver Mutation: Prolonged Control of Refractory Osteosarcoma with CDK4/6 Inhibitor in a Familial Cancer

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
Omid S Tehrani ◽  
Haifaa Abdulhaq ◽  
Celia D Delozier
2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Pandora Patterson ◽  
Fiona E. J. McDonald ◽  
Elizabeth Kelly-Dalgety ◽  
Bianca Lavorgna ◽  
Barbara L. Jones ◽  
...  

Abstract Background Adolescents and young adults (AYAs) bereaved by the death of a parent or sibling from cancer report unique psychosocial needs and can have difficulty adjusting to their loss. Unaddressed, this can result in poor long-term bereavement outcomes. This paper describes the development and evaluation of Good Grief – a 3-day camp-based program focused on meeting coping, social support, and respite needs of AYAs bereaved by familial cancer. Methods One hundred and nine Australian AYAs (68% female; age: 12–25 years, M = 16.63) participated in the evaluation. Grief intensity (Texas Revised Inventory of Grief), meaning-making (Grief and Meaning Reconstruction Inventory), trauma coping (Perceived Ability to Cope with Trauma Scale) and unmet needs (Bereaved Cancer Needs Instrument) measures were administered pre-program and 3-months post-program. Acceptability was measured after each session and at the program’s conclusion. Appropriateness was measured at 3-month follow-up. Thirteen participants were interviewed three months post-program on their perceptions of the program. Results Participants reported high program satisfaction, engagement with psychosocial sessions, and enjoyment of recreational activities. Significant improvements were observed in trauma coping abilities and reductions in unmet needs for managing emotions, social support, respite, future planning, and accessing information and support domains. No change was evident in grief intensity or meaning-making as measured quantitatively. Interviews supported these quantitative findings but also identified evidence of personal growth, a component of meaning-making. Conclusions Good Grief is a highly acceptable and beneficial intervention that addresses the unique needs of AYAs bereaved by familial cancer.


Breast Care ◽  
2021 ◽  
pp. 1-6
Author(s):  
Karin Kast ◽  
Julia Häfner ◽  
Evelin Schröck ◽  
Arne Jahn ◽  
Carmen Werner ◽  
...  

<b><i>Background:</i></b> In clinical routine, not every patient who is offered genetic counselling and diagnostics in order to investigate a familial cancer risk predisposition opts for it. Little is known about acceptance of counselling and testing in newly diagnosed breast cancer cases in Germany. <b><i>Methods:</i></b> All primary breast cancer cases and patients with DCIS (ductal carcinoma in situ) treated at the University Hospital of Dresden between 2016 and 2019 were included. The number of tumor board recommendations for genetic counselling on the basis of the GC-HBOC risk criteria was recorded. Acceptance was analyzed by number of cases with counselling in the GC-HBOC-Center Dresden. <b><i>Results:</i></b> Of 996 primary breast cancer and DCIS cases, 262 (26.3%) were eligible for genetic counselling. Recommendation for genetic counselling was accepted by 64.1% (168/262). Of these 90.5% (152/168) opted for molecular genetic analysis. The acceptance rate for counselling increased between 2016 and 2019 from 58.3 to 72.6%. Altogether, 20.4% (31/152) patients were found to carry a pathogenic variant in the breast cancer genes <i>BRCA1</i> or <i>BRCA2</i>. <b><i>Conclusion:</i></b> Acceptance of recommendation is increasing as clinical consequences augment. Optimization in providing information about hereditary cancer risk and in accessibility of counselling and testing is required to further improve acceptance of recommendation.


2018 ◽  
Vol 18 ◽  
pp. S267-S268
Author(s):  
Theodoros Karantanos ◽  
Shruti Chaturvedi ◽  
Styliani Karanika ◽  
Evan Braunstein ◽  
Linda Resar ◽  
...  

1989 ◽  
Vol 7 (4) ◽  
pp. 527-540 ◽  
Author(s):  
E G Levine ◽  
R A King ◽  
C D Bloomfield

Heredity is generally felt to play a minor role in the development of cancer. This review critically examines this assumption. Topics discussed include evidence for heritable predisposition in animals and humans; the potential importance of genetic-environmental interactions; approaches that are being used to successfully locate genes responsible for heritable predisposition; comparability of genetic findings among heritable and corresponding sporadic malignancies; and future research directions. Breast, colon, and lung cancer are used to exemplify clinical and research activity in familial cancer; clinical phenotypes, segregation and linkage analyses, models for environmental interactions with inherited traits, and molecular mechanisms of tumor development are discussed. We conclude that the contribution of heredity to the cancer burden is greater than generally accepted, and that study of heritable predisposition will continue to reveal carcinogenic mechanisms important to the development of all cancers.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
William D. Dupont ◽  
Joan P. Breyer ◽  
Spenser H. Johnson ◽  
W. Dale Plummer ◽  
Jeffrey R. Smith

AbstractThe G84E germline mutation of HOXB13 predisposes to prostate cancer and is clinically tested for familial cancer care. We investigated the HOXB locus to define a potentially broader contribution to prostate cancer heritability. We sought HOXB locus germline variants altering prostate cancer risk in three European-ancestry case–control study populations (combined 7812 cases and 5047 controls): the International Consortium for Prostate Cancer Genetics Study; the Nashville Familial Prostate Cancer Study; and the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial. Multiple rare genetic variants had concordant and strong risk effects in these study populations and exceeded genome-wide significance. Independent risk signals were best detected by sentinel variants rs559612720 within SKAP1 (OR = 8.1, P = 2E−9) and rs138213197 (G84E) within HOXB13 (OR = 5.6, P = 2E−11), separated by 567 kb. Half of carriers inherited both risk alleles, while others inherited either alone. Under mutual adjustment, the variants separately carried 3.6- and 3.1-fold risk, respectively, while joint inheritance carried 11.3-fold risk. These risks were further accentuated among men meeting criteria for hereditary prostate cancer, and further still for those with early-onset or aggressive disease. Among hereditary prostate cancer cases diagnosed under age 60 and with aggressive disease, joint inheritance carried a risk of OR = 27.7 relative to controls, P = 2E−8. The HOXB sentinel variant pair more fully captured genetic risk for prostate cancer within the study populations than either variant alone.


2016 ◽  
Vol 18 (suppl_6) ◽  
pp. vi57-vi57
Author(s):  
Sarah Hummel ◽  
Wendy Kohlmann ◽  
Thomas Kollmeyer ◽  
Robert Jenkins ◽  
Joshua Sonnen ◽  
...  

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