Journal ArticleDOI
Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors
Bronson D. Riley,Julie O. Culver,Cécile Skrzynia,Leigha Senter,June A. Peters,Josephine Wagner Costalas,Faith Callif-Daley,Sherry C. Grumet,Katherine S. Hunt,Rebecca Nagy,Wendy McKinnon,Nancie Petrucelli,Robin L. Bennett,Angela Trepanier +13 more
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TLDR
These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing.Abstract:
Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider’s professional judgment based on the clinical circumstances of a client.read more
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Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)
Kevin J. Monahan,Nicola Bradshaw,Sunil Dolwani,Bianca DeSouza,Malcolm G. Dunlop,James E. East,Mohammad Ilyas,Asha Kaur,Fiona Lalloo,Andrew Latchford,Matthew D. Rutter,Ian Tomlinson,Huw Thomas,James Hill +13 more
TL;DR: This guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC.
Journal ArticleDOI
BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface
Andrew Lee,Alex P Cunningham,Karoline Kuchenbaecker,Nasim Mavaddat,Douglas F. Easton,Antonis C. Antoniou +5 more
TL;DR: Changes to the BOADICEA model are described that extend its capabilities, make it easier to use in a clinical setting and yield more accurate predictions, and have a significant impact on risk predictions.
Journal ArticleDOI
American Society of Clinical Oncology Expert Statement: Collection and Use of a Cancer Family History for Oncology Providers
Karen H. Lu,Marie E. Wood,Molly S. Daniels,Cathy Burke,James M. Ford,Noah D. Kauff,Wendy Kohlmann,Noralane M. Lindor,Therese M. Mulvey,Linda Robinson,Wendy S. Rubinstein,Elena M. Stoffel,Carrie Snyder,Sapna Syngal,Janette K. Merrill,Dana S. Wollins,Kevin S. Hughes +16 more
TL;DR: Family history is key to the identification of those individuals who have an inherited predisposition to malignancy or who are at increased risk for additional primary cancers, and the ability to perform predictive genetic testing on patients' family members results in a more precise risk assessment and initiation of appropriate screening and prevention strategies.
Journal ArticleDOI
Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019
Veda N. Giri,Karen E. Knudsen,William Kevin Kelly,Heather H. Cheng,Kathleen A. Cooney,Michael S. Cookson,William L. Dahut,Scott Weissman,Howard R. Soule,Daniel P. Petrylak,Adam P. Dicker,Saud H. AlDubayan,Amanda E. Toland,Colin C. Pritchard,Curtis A. Pettaway,Mary B. Daly,James L. Mohler,J. Kellogg Parsons,Peter R. Carroll,Robert Pilarski,Amie Blanco,Ashley H. Woodson,Alanna Kulchak Rahm,Mary-Ellen Taplin,Thomas J. Polascik,Brian T. Helfand,Colette Hyatt,Alicia K. Morgans,Felix Y. Feng,Michael Russell Mullane,Jacqueline Powers,Raoul S. Concepcion,Daniel W. Lin,Richard C. Wender,James Ryan Mark,Anthony J. Costello,Arthur L. Burnett,Oliver Sartor,William B. Isaacs,Jianfeng Xu,Jeffrey N. Weitzel,Gerald L. Andriole,Himisha Beltran,Alberto Briganti,Lindsey Byrne,Anne Calvaresi,Thenappan Chandrasekar,David Y.T. Chen,Robert B. Den,Albert Dobi,E. David Crawford,James A. Eastham,Scott E. Eggener,Matthew L. Freedman,Marc B. Garnick,Patrick T. Gomella,Nathan Handley,Mark D. Hurwitz,Joseph K Izes,R. Jeffrey Karnes,Costas D. Lallas,Lucia R. Languino,Stacy Loeb,Ana Maria Lopez,Kevin R. Loughlin,Grace L. Lu-Yao,S. Bruce Malkowicz,Mark Mann,Patrick Mille,Martin Miner,Todd M. Morgan,Jose Moreno,Lorelei A. Mucci,Ronald E. Myers,Sarah M. Nielsen,Brock O'Neil,Wayne H. Pinover,Peter A. Pinto,Wendy Poage,Ganesh V. Raj,Timothy R. Rebbeck,Charles J. Ryan,Howard M. Sandler,Matthew J. Schiewer,E. Michael D. Scott,Brittany M. Szymaniak,William Tester,Edouard J. Trabulsi,Neha Vapiwala,Evan Y. Yu,Charnita Zeigler-Johnson,Leonard G. Gomella +91 more
TL;DR: This multidisciplinary, consensus-driven PCA genetic implementation framework provides novel guidance to clinicians and patients tailored to the precision era and includes optimal pretest informed consent, post-test discussion, cascade testing, and technology-based approaches.
Journal ArticleDOI
Update in genetic susceptibility in melanoma.
Miriam Potrony,Celia Badenas,Paula Aguilera,Joan Anton Puig-Butille,Cristina Carrera,Josep Malvehy,Susana Puig +6 more
TL;DR: Variants in melanocortin 1 receptor (MC1R) and microphthalmia-associated transcription factor (MITF) give a moderately increased risk to develop melanoma.
References
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Inhibition of Poly(ADP-Ribose) Polymerase in Tumors from BRCA Mutation Carriers
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