NCCN临床实践指南_遗传_家族高风险评估-乳腺癌和卵巢癌(2019.V3)英文版

1、NCCN org Version 3 2019 01 18 19 2019 National Comprehensive Cancer Network NCCN All rights reserved NCCN Guidelines and this illustration may not be reproduced in any form without the express written permission of NCCN NCCN Clinical Practice Guidelines in Oncology NCCN Guidelines Genetic Familial High Risk Assessment Breast and Ovarian Version 3 2019 January 18 2019 Continue Continue NCCN Guidelines Panel Disclosures Medical oncology Cancer Medical genetics Internal medicine Hematology Hematolo

2、gy oncology Gynecologic oncology Gynecology Breast surgical oncology 33 3124 3129 Shindo K Yu J Suenaga M et al J Clin Oncol 2017 35 3382 3390 Footnote j Eg PARP inhibitors for ovarian cancer and metastatic HER2 negative breast cancer platinum therapy for prostate cancer See the relevant NCCN treatment guidelines eg NCCN Guidelines for Breast Cancer NCCN Guidelines for Prostate Cancer for further details Footnote k This may be extended to an affected third degree relative if related through two

3、male relatives eg paternal grandfather s mother or sister Continued UPDATES BRCA Related Breast and or Ovarian Cancer Syndrome BR OV A 2 of 3 Genetic Testing Approach 3rd bullet 1st sentence was revised If no pathogenic likely pathogenic variant is found consider referral for expert genetics evaluation if not yet performed testing for other hereditary cancer syndromes may be appropriate other hereditary cancer syndromes BR OV A 3 of 3 A new section titled Evaluating the Source of Genetic Testing

4、 Information was added Updates in Version 2 2019 of the NCCN Guidelines for Genetic Familial High Risk Assessment Breast and Ovarian from Version 1 2019 include BRCA Related Breast and or Ovarian Cancer Syndrome BRCA 1 BRCA1 2 Testing Criteria Under the 2nd bullet Personal history of breast cancer one or more of the following The 1st sub bullet was revised as Diagnosed 50 46 50 y with The 3rd tertiary bullet was added 1 close blood relative with high grade Gleason score 7 prostate cancer Under t

5、he 4th sub bullet Diagnosed at any age with 1 close blood relative with The criterion was revised by removing high grade Gleason score 7 or from metastatic prostate cancer Updates in Version 3 2019 of the NCCN Guidelines for Genetic Familial High Risk Assessment Breast and Ovarian from Version 2 2019 include MS 1 The Discussion section has been updated to reflect the changes in the algorithm NCCN Guidelines Version 3 2019 Genetic Familial High Risk Assessment Breast and Ovarian Version 3 2019 01

6、 18 19 2019 National Comprehensive Cancer Network NCCN All rights reserved NCCN Guidelines and this illustration may not be reproduced in any form without the express written permission of NCCN NCCN Guidelines Index Table of Contents Discussion Printed by Maria Chen on 1 20 2019 9 49 11 PM For personal use only Not approved for distribution Copyright 2019 National Comprehensive Cancer Network Inc All Rights Reserved Updates in Version 1 2019 of the NCCN Guidelines for Genetic Familial High Risk

7、Assessment Breast and Ovarian from Version 1 2018 include Li Fraumeni Syndrome LIFR A 1 of 2 Breast Cancer Risk for Women 4th bullet was revised from Discuss option of risk reducing mastectomy and counsel regarding degree of protection degree of age specific cancer risk reconstruction options and competing risks of other cancers to Discuss option of risk reducing mastectomy Counseling should include a discussion regarding degree of protection reconstruction options and risks In addition the fami

8、ly history and residual breast cancer risk with age and life expectancy should be considered during counseling Also for COWD A Other Cancer Risks Footnote 7 was added to Annual whole body MRI Screening through whole body MRI has been broadly demonstrated to be feasible and of potential utility in the early detection of cancer among classic LFS families though it also results in the detection of false positive findings and possible cancer overdiagnosis Furthermore screening utility has not been e

9、valuated among those with a germline TP53 pathogenic likely pathogenic variant without a classic family history of LFS who are increasingly identified through multi gene panel tests UPDATES Cowden Syndrome PTEN Hamartoma Tumor Syndrome COWD A Women 5th bullet was revised from For endometrial cancer screening encourage patient education and prompt response to symptoms eg abnormal bleeding Consider annual random endometrial biopsies and or ultrasound beginning at age 30 35 y to Endometrial cancer

10、screening Encourage patient education and prompt response to symptoms eg abnormal bleeding Patients are encouraged to keep a calendar in order to identify irregularities in their menstrual cycle Because endometrial cancer can often be detected early based on symptoms women should be educated regarding the importance of prompt reporting and evaluation of any abnormal uterine bleeding or postmenopausal bleeding The evaluation of these symptoms should include endometrial biopsy Endometrial cancer s

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