MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer [0.03%]
澳大利亚Lynch综合征家系中MSH6和PMS2突变阳性：新发突变、癌症风险及结直肠癌诊断年龄
Bente A Talseth-Palmer,Mary McPhillips,Claire Groombridge et al.
Bente A Talseth-Palmer et al.
Background: Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in fam...
BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia [0.03%]
爱沙尼亚有家族史或早期发病的乳腺癌妇女和有家族病史癌症患者的BRCA1和BRCA2基因突变
Kristiina Tamboom,Krista Kaasik,Jelena Aršavskaja et al.
Kristiina Tamboom et al.
Background: The aim of this study was to identify BRCA1 and BRCA2 mutations in the Estonian population. We analyzed genetic data and questionnaire from 64 early-onset (< 45 y) breast cancer patients, 47 familial cases (pa...
Surveillance of FAP: a prospective blinded comparison of capsule endoscopy and other GI imaging to detect small bowel polyps [0.03%]
一项前瞻性盲法对照研究：评估胶囊内镜和其他胃肠道影像学检查在发现小肠息肉方面的应用价值
Paul Tescher,Finlay A Macrae,Tony Speer et al.
Paul Tescher et al.
Background: Familial adenomatous polyposis (FAP) is a hereditary disorder characterized by polyposis along the gastrointestinal tract. Information on adenoma status below the duodenum has previously been restricted due to...
Steven Narod
Steven Narod
Options for the prevention of hereditary breast and ovarian cancer include screening, preventive surgery and chemoprevention. Screening studies with magnetic resonance imaging of the breast are promising but the technology is not widespread...
Breast Cancers with Ocular Metastases are Early Onset, Non-Familial and Non-BRCA1/BRCA2 Tumours [0.03%]
眼转移乳腺癌为早发型、非遗传型和非BRCA1/BRCA2肿瘤
Katarzyna Królewska,Anna Jakubowska,Stanisław Zajaczek
Katarzyna Królewska
DNA double strand break repair and its association with inherited predispositions to breast cancer [0.03%]
DNA双链断裂修复及其与遗传性乳腺癌易感性的关联研究
Rodney J Scott
Rodney J Scott
Mutations in BRCA1 account for the majority of familial aggregations of early onset breast and ovarian cancer (~70%) and about 1/5 of all early onset breast cancer families; in contrast, mutations in BRCA2 account for a smaller proportion o...
Rodney J Scott,Katie A Ashton
Rodney J Scott
There is much debate in the literature about familial predispositions to breast and bowel cancers yet little evidence is forthcoming to suggest that there are susceptibility genes that can account for such kindreds. Within the context of kn...
Iris van Oostrom,Aad Tibben
Iris van Oostrom
When BRCA1/2 genetic susceptibility testing was introduced in the clinic in the mid-nineties, the "Huntington protocol" was used in the counselling of individuals applying for genetic testing. This protocol includes at least three sessions ...
Mieke Kriege,Cecile Tm Brekelmans,Jan Gm Klijn
Mieke Kriege
Towards evidence-based management of inherited breast and breast-ovarian cancer [0.03%]
遗传性乳腺癌和乳腺卵巢癌的循证管理展望
Pål Møller
Pål Møller
Inherited breast-ovarian cancer was described in 1866. The underlying genetic defects in BRCA1/2 were demonstrated 128 years later. We now have 10 years of experience with genetic testing in BRCA kindreds. The majority of breast cancer kind...