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Abstract：
BACKGROUND: An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer. We present a prospective study on applying three selected clinical guidelines to a cohort of 1000 Slovenian women to determine the prevalence of at-risk women according to each of the guidelines and analyze the differences amongst the guidelines.
METHODS: Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored.
RESULTS: NCCN guidelines identify 13.2% of women, ACMG/NSGC guidelines identify 7.1% of women, and SGO guidelines identify 7.0% of women from the Slovenian population, while 6.2% of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer.
CONCLUSIONS: We identified 13.7% of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying nearly twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population.
METHODS: Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored.
RESULTS: NCCN guidelines identify 13.2% of women, ACMG/NSGC guidelines identify 7.1% of women, and SGO guidelines identify 7.0% of women from the Slovenian population, while 6.2% of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer.
CONCLUSIONS: We identified 13.7% of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying nearly twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population.
摘要：
背景：乳腺癌和卵巢癌病例的重要数量是由于强烈的遗传易感性。识别风险个体的主要工具是识别暗示性癌症家族史。我们提出了一项前瞻性研究，将三个选定的临床指南应用于1000名斯洛文尼亚妇女的队列，以根据每个指南确定处于危险中的妇女的患病率，并分析指南之间的差异。
方法：收集1000名斯洛文尼亚妇女的个人和家族癌症史。三个组织的指南：国家综合癌症网络（NCCN），美国医学遗传学学院与国家遗传顾问协会（ACMG/NSGC）合作，和妇科肿瘤学会（SGO）应用于队列。确定的妇女人数，高危人群的特点，并探讨了准则之间的协议。
结果：NCCN指南确定了13.2%的女性，ACMG/NSGC指南确定了7.1%的女性，SGO指南确定了斯洛文尼亚人口中7.0%的女性，虽然所有三项指南都确定6.2％的女性患有遗传性乳腺癌和卵巢癌的高风险。
结论：根据所有指南的个人和家族癌症史，我们确定了斯洛文尼亚人群中13.7%的女性患乳腺癌和卵巢癌的风险增加。这些准则之间存在重要差异。NCCN指南是最具包容性的，在斯洛文尼亚人群中，与AGMG/NSCG和SGO指南相比，发现遗传性乳腺癌和卵巢癌高危女性的比例接近两倍。
方法：收集1000名斯洛文尼亚妇女的个人和家族癌症史。三个组织的指南：国家综合癌症网络（NCCN），美国医学遗传学学院与国家遗传顾问协会（ACMG/NSGC）合作，和妇科肿瘤学会（SGO）应用于队列。确定的妇女人数，高危人群的特点，并探讨了准则之间的协议。
结果：NCCN指南确定了13.2%的女性，ACMG/NSGC指南确定了7.1%的女性，SGO指南确定了斯洛文尼亚人口中7.0%的女性，虽然所有三项指南都确定6.2％的女性患有遗传性乳腺癌和卵巢癌的高风险。
结论：根据所有指南的个人和家族癌症史，我们确定了斯洛文尼亚人群中13.7%的女性患乳腺癌和卵巢癌的风险增加。这些准则之间存在重要差异。NCCN指南是最具包容性的，在斯洛文尼亚人群中，与AGMG/NSCG和SGO指南相比，发现遗传性乳腺癌和卵巢癌高危女性的比例接近两倍。
