Literature DB >> 33406487

Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

Mary B Daly1, Tuya Pal2, Michael P Berry3, Saundra S Buys4, Patricia Dickson5, Susan M Domchek6, Ahmed Elkhanany7, Susan Friedman8, Michael Goggins9, Mollie L Hutton, Beth Y Karlan10, Seema Khan11, Catherine Klein12, Wendy Kohlmann, Allison W Kurian13, Christine Laronga14, Jennifer K Litton15, Julie S Mak, Carolyn S Menendez16, Sofia D Merajver17, Barbara S Norquist18, Kenneth Offit19, Holly J Pederson20, Gwen Reiser, Leigha Senter-Jamieson, Kristen Mahoney Shannon21, Rebecca Shatsky22, Kala Visvanathan9, Jeffrey N Weitzel23, Myra J Wick24, Kari B Wisinski25, Matthew B Yurgelun26, Susan D Darlow27, Mary A Dwyer27.   

Abstract

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants associated with increased risk of breast, ovarian, and pancreatic cancer and recommended approaches to genetic testing/counseling and management strategies in individuals with these pathogenic or likely pathogenic variants. This manuscript focuses on cancer risk and risk management for BRCA-related breast/ovarian cancer syndrome and Li-Fraumeni syndrome. Carriers of a BRCA1/2 pathogenic or likely pathogenic variant have an excessive risk for both breast and ovarian cancer that warrants consideration of more intensive screening and preventive strategies. There is also evidence that risks of prostate cancer and pancreatic cancer are elevated in these carriers. Li-Fraumeni syndrome is a highly penetrant cancer syndrome associated with a high lifetime risk for cancer, including soft tissue sarcomas, osteosarcomas, premenopausal breast cancer, colon cancer, gastric cancer, adrenocortical carcinoma, and brain tumors.

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Year:  2021        PMID: 33406487     DOI: 10.6004/jnccn.2021.0001

Source DB:  PubMed          Journal:  J Natl Compr Canc Netw        ISSN: 1540-1405            Impact factor:   11.908


  113 in total

1.  Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels.

Authors:  Nihat Bugra Agaoglu; Busra Unal; Ozlem Akgun Dogan; Martin Orlinov Kanev; Payam Zolfagharian; Sebnem Ozemri Sag; Sehime Gulsun Temel; Levent Doganay
Journal:  Eur J Hum Genet       Date:  2022-02-08       Impact factor: 4.246

2.  Association of Family Cancer History With Pathogenic Variants in Specific Breast Cancer Susceptibility Genes.

Authors:  Allison W Kurian; Paul Abrahamse; Kevin C Ward; Ann S Hamilton; Dennis Deapen; Jonathan S Berek; Lily Hoang; Amal Yussuf; Jill Dolinsky; Krystal Brown; Thomas Slavin; Timothy P Hofer; Steven J Katz
Journal:  JCO Precis Oncol       Date:  2021-12-22

Review 3.  Cyclin-dependent kinase 4 and 6 inhibitors in combination with neoadjuvant endocrine therapy in estrogen receptor-positive early breast cancer: a systematic review and meta-analysis.

Authors:  Yumei Guan; Guoshuang Shen; Qianqian Fang; Yuanfang Xin; Xingfa Huo; Jinming Li; Fuxing Zhao; Dengfeng Ren; Zhen Liu; Zitao Li; Jiuda Zhao
Journal:  Clin Exp Med       Date:  2022-03-19       Impact factor: 3.984

Review 4.  Adrenocortical carcinoma: Pediatric aspects (Review).

Authors:  Florica Sandru; Răzvan-Cosmin Petca; Mara Carsote; Aida Petca; Mihai Cristian Dumitrascu; Adina Ghemigian
Journal:  Exp Ther Med       Date:  2022-02-16       Impact factor: 2.447

5.  Physicians' perceptions of the factors influencing disclosure of secondary findings in tumour genomic profiling in Japan: a qualitative study.

Authors:  Saki Shimada; Takahiro Yamada; Miho Iwakuma; Shinji Kosugi
Journal:  Eur J Hum Genet       Date:  2021-08-16       Impact factor: 4.246

6.  Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer.

Authors:  Konstantinos Agiannitopoulos; Georgia Pepe; Eirini Papadopoulou; Georgios N Tsaousis; Stavroula Kampouri; Sonia Maravelaki; Athanassios Fassas; Christos Christodoulou; Rodoniki Iosifidou; Sofia Karageorgopoulou; Christos Markopoulos; Ioannis Natsiopoulos; Konstantinos Papazisis; Maria Vasilaki-Antonatou; Vassileios Venizelos; Vahit Ozmen; Sualp Tansan; Kerim Kaban; Dan Tudor Eniu; Angelica Chiorean; George Nasioulas
Journal:  Cancer Genomics Proteomics       Date:  2021 May-Jun       Impact factor: 4.069

7.  Genetic Counseling, Screening and Risk-Reducing Surgery in Patients with Primary Breast Cancer and Germline BRCA Mutations: Unmet Needs in Low- and Middle-Income Countries.

Authors:  Hiba A Moukadem; Ahmad Al Masry; Rula W Atwani; Firas Kreidieh; Lana E Khalil; Rita Saroufim; Sarah Daouk; Iman Abou Dalle; Nagi S El Saghir
Journal:  Eur J Breast Health       Date:  2021-12-30

8.  Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.

Authors:  Georgios N Tsaousis; Eirini Papadopoulou; Konstantinos Agiannitopoulos; Georgia Pepe; Nikolaos Tsoulos; Ioannis Boukovinas; Theofanis Floros; Rodoniki Iosifidou; Ourania Katopodi; Anna Koumarianou; Christos Markopoulos; Konstantinos Papazisis; Vasileios Venizelos; Achilleas Kapsimalis; Grigorios Xepapadakis; Amanda Psyrri; Eugeniu Banu; Dan Tudor Eniu; Alexandru Blidaru; Dana Lucia Stanculeanu; Andrei Ungureanu; Vahit Ozmen; Sualp Tansan; Mehmet Tekinel; Suayib Yalcin; George Nasioulas
Journal:  Cancer Genomics Proteomics       Date:  2022 Jan-Feb       Impact factor: 4.069

Review 9.  BRCA Genetic Test and Risk-Reducing Salpingo-Oophorectomy for Hereditary Breast and Ovarian Cancer: State-of-the-Art.

Authors:  Masayuki Sekine; Koji Nishino; Takayuki Enomoto
Journal:  Cancers (Basel)       Date:  2021-05-23       Impact factor: 6.639

10.  Breast-Gynaecological & Immuno-Oncology International Cancer Conference (BGICC) Consensus and Recommendations for the Management of Triple-Negative Breast Cancer.

Authors:  Hesham Elghazaly; Hope S Rugo; Hamdy A Azim; Sandra M Swain; Banu Arun; Matti Aapro; Edith A Perez; Benjamin O Anderson; Frederique Penault-Llorca; Pierfranco Conte; Nagi S El Saghir; Cheng-Har Yip; Marwan Ghosn; Philip Poortmans; Mohamed A Shehata; Armando E Giuliano; Jessica W T Leung; Valentina Guarneri; Joseph Gligorov; Bahadir M Gulluoglu; Hany Abdel Aziz; Mona Frolova; Mohamed Sabry; Charles M Balch; Roberto Orecchia; Heba M El-Zawahry; Sana Al-Sukhun; Khaled Abdel Karim; Alaa Kandil; Ruslan M Paltuev; Meteb Foheidi; Mohamed El-Shinawi; Manal ElMahdy; Omalkhair Abulkhair; Wentao Yang; Adel T Aref; Joaira Bakkach; Nermean Bahie Eldin; Hagar Elghazawy
Journal:  Cancers (Basel)       Date:  2021-05-08       Impact factor: 6.639

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