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题目:: Cancer burden in women with hereditary non-polyposis colorectal cancer (HNPCC).
作者:: Harris(M)
状态:: 发布时间2016-12-12 , 更新时间 2016-12-12
期刊:: J Clin Oncol
摘要:: 9624 Background: Lifetime cancer burden is significant for men and women with HNPCC. In addition to cancers of "other sites" women with HNPCC are estimated to have a 40-60% lifetime risk of developing uterine cancer and an up to 10% lifetime risk of developing ovarian cancer.,Cancer diagnoses of Australian (Victorian) women with HNPCC were reviewed to determine the frequency of cancer and the frequency of gynaecological compared to "other" cancer diagnoses. Female mutation carriers were identified from Familial Cancer Centre database records. From pedigrees first degree female relatives of mutation positive females who had been diagnosed with HNPCC related cancers, and female obligate HNPCC mutation carriers were also identified. Verified cancer diagnoses of these women were recorded.,107 women from 50 families were included. Twenty-four women (22%) belonged to families with an MLH1 mutation, 79 (74%) to families with an MSH2 mutation and 4 (4%) had MSH6 mutations. Twenty-three women (21%) were unaffected by cancer at a median age of 37 years (range 20-88 years). Only five of these were over 40 years of age. Of the women diagnosed with cancer (N=84 or 79%), 50/84 (60%) had colorectal cancer with a median age at first diagnosis of 39 years (range 29-80 years); 32/84 (38%) had CRC only. Thirty-six of 84 (43%) had a gynaecological cancer; 29/84 (35%) had endometrial cancer diagnosed at a median age of 51 (range 39-71 years) and 5/84 (6%) had ovarian cancer (all diagnosed < 50 years of age).Twenty of 84 women with cancer (23%) had a gynaecological cancer alone (15 endometrial, 5 ovarian). Fifteen of 84 women (18%) had both CRC and uterine cancer. Twelve of 107 women (11%) had had prophylactic hysterectomy and oophorectomy. Of 84 women diagnosed with cancer 23 (27%) had more than one cancer and 11 (13%) had 3 or more. Of those with cancer 10 (12%) had breast cancer, 5 (6%) had stomach cancer, 3 (4%) had small bowel cancer, 3 (4%) had transitional cell carcinomas of the urinary tract, 4 (5%) had Muir Torre syndrome and 1 (1%) had a primary brain tumour.,Cancer burden in women with HNPCC is significant due to the combination of gynaecological cancers, as well as CRC and cancers of "other" sites; however CRC remains the commonest primary cancer site. No significant financial relationships to disclose.
语言:: eng
DOI:

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