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The aim of this prospective study is to assess the prognostic value of BRCA1 mutations in familial breast cancer patients affected by a second primary cancer. The study group comprised 19 women having multiple primary breast cancers (breast-breast, breast-other primary) who were either BRCA1...
Extrapolations based on National Health Statistics can scientifically cover missing information in a defined population with minimum effect on performance of probability assessment models.
BRCA1 mutations predispose to early-onset breast cancer. We previously reported an association between absence of the common IGF1 19 CA-repeat allele (IGF1-19/-19) and being a BRCA1 mutation carrier in young women from breast cancer high-risk families. Others have reported a four-fold risk of...
Our findings show that few patients with BC and CMM who lacked family histories of these cancers are carriers of deleterious germline mutations in four of the five genes we examined. We describe for the first time, two simultaneous BRCA2 and TP53 mutations, suggesting that analysis in more than...
Neurofibromatosis type 1 is a common familial cancer syndrome, affecting about 1 in every 4,000 individuals worldwide. We have carried out NF1 gene mutation analysis on DNA isolated from 25 tumours (dermal and plexiform neurofibromas, malignant peripheral nerve sheath tumour, MPNST), obtained at...
In terms of ranking, all prediction models performed reasonably well with similar performance characteristics. Model predictions were widely discrepant for some families. Review of cancer family histories by an experienced clinician continues to be vital to ensure that critical elements are not...
Cowden syndrome is a disease associated with an increase in breast cancer susceptibility. Alleles in PTEN and other breast cancer susceptibility genes would be responsible for ∼25% of the familial component of breast cancer risk, BRCA1 and BRCA2 being the two major genes responsible for this...
Pathogenic mutations in BRCA1 and BRCA2 have been reported in about 55–59% of breast and ovarian cancer (HBOC) families of French Canadian descent, where about 70% of families with more than two cases of ovarian cancer were mutation-positive. Given that specific subtypes of ovarian cancer are...
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