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遗传/家族性高风险评估:乳腺癌、卵巢癌和胰腺癌,第 2.2021 版,NCCN 肿瘤学临床实践指南。

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

机构信息

1Fox Chase Cancer Center.

2Vanderbilt-Ingram Cancer Center.

出版信息

J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.


DOI:10.6004/jnccn.2021.0001
PMID:33406487
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.

摘要

NCCN 遗传/家族性高风险评估指南:乳腺、卵巢和胰腺重点主要评估与乳腺癌、卵巢癌和胰腺癌风险增加相关的致病性或可能致病性变异,以及在携带这些致病性或可能致病性变异的个体中进行基因检测/咨询和管理策略的推荐方法。本文主要关注与 BRCA 相关的乳腺/卵巢癌综合征和 Li-Fraumeni 综合征的癌症风险和风险管理。携带 BRCA1/2 致病性或可能致病性变异的个体具有极高的乳腺癌和卵巢癌风险,需要考虑更强化的筛查和预防策略。此外,这些携带者中前列腺癌和胰腺癌的风险也升高。Li-Fraumeni 综合征是一种高外显率的癌症综合征,与终生癌症风险增加相关,包括软组织肉瘤、骨肉瘤、绝经前乳腺癌、结肠癌、胃癌、肾上腺皮质癌和脑肿瘤。

相似文献

[1]
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

J Natl Compr Canc Netw. 2021-1-6

[2]
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.

J Natl Compr Canc Netw. 2023-10

[3]
Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey.

J BUON. 2020

[4]
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.

JAMA. 2019-8-20

[5]
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.

J Natl Compr Canc Netw. 2020-4

[6]
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.

JAMA. 2019-8-20

[7]
Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome.

Obstet Gynecol Clin North Am. 2010-3

[8]
Gynecological-endocrinological aspects in women carriers of BRCA1/2 gene mutations.

Climacteric. 2018-12

[9]
Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015.

J Natl Compr Canc Netw. 2016-2

[10]
Key messages for communicating information about BRCA1 and BRCA2 to women with breast or ovarian cancer: Consensus across health professionals and service users.

Psychooncology. 2017-11

引用本文的文献

[1]
Navigating disclosure in new romantic partnerships as an adolescent or young adult with Li-Fraumeni syndrome.

Fam Cancer. 2025-9-10

[2]
Reliability and validity of the multidimensional impact of cancer risk assessment (MICRA) questionnaire: Japanese version.

Fam Cancer. 2025-9-3

[3]
Redefining Risk, Biomarkers, and Precision Therapy for Hereditary Ovarian Cancer: A Review.

ACS Omega. 2025-8-16

[4]
Retrospective Analysis of the Uptake and Timing of Risk-Reducing Salpingo-Oophorectomy in Women With BRCA1/2 Pathogenic Variants.

Cureus. 2025-8-22

[5]
Capturing breast cancers' copy-number landscape in routine pathology: Exploiting low-resolution, genome-wide sequencing to identify HRD and beyond.

Br J Cancer. 2025-8-23

[6]
Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women.

Nat Commun. 2025-8-21

[7]
Dense breasts and women's health: which screenings are essential?

Clinics (Sao Paulo). 2025-8-9

[8]
Obstacles in genetic testing for germline BRCA1/2 pathogenic mutations in patients with primary breast and ovarian cancer in Switzerland.

Arch Gynecol Obstet. 2025-8-9

[9]
Impact of age at first sexual intercourse on the development and prognosis of breast cancer: A two-sample Mendelian randomization study with NHANES validation.

Medicine (Baltimore). 2025-8-1

[10]
Family Communication of Genetic Risk: What is it and Why does it Matter?

Acta Med Philipp. 2025-6-30

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