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Article
Prevalence of PALB2 mutations in the Creighton University Breast Cancer Family Registry
The purpose of this study is to determine the prevalence of PALB2 mutations among breast cancer families from the United States. The PALB2 gene was screened for mutations in 90 familial breast cancer patients fro...
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Article
Inherited genetic susceptibility to multiple myeloma
Although the familial clustering of multiple myeloma (MM) supports the role of inherited susceptibility, only recently has direct evidence for genetic predisposition been demonstrated. A meta-analysis of two g...
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Article
Open AccessIncidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study
The BRCA1 and BRCA2 genes confer increased susceptibility to breast and ovarian cancer and to a spectrum of other cancers. There is controversy regarding the risk of colorectal cancer conferred by germline mutati...
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Article
Open AccessThe incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers
Germline mutations in BRCA1 and BRCA2 predispose to pancreatic cancer. We estimated the incidence of pancreatic cancer in a cohort of female carriers of BRCA1 and BRCA2 mutation. We also estimated survival rates ...
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Article
Open AccessPredictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers
The objective of this study was to estimate the risk of contralateral breast cancer in BRCA1 and BRCA2 carriers; and measure the extent to which host, family history, and cancer treatment-related factors modif...
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Article
Open AccessEvaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast canc...
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Article
Open AccessThe TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
The TP53 pathway, in which TP53 and its negative regulator MDM2 are the central elements, has an important role in carcinogenesis, particularly in BRCA1- and BRCA2-mediated carcinogenesis. A single nucleotide pol...
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Article
Open AccessRapid progression of prostate cancer in men with a BRCA2 mutation
Men with BRCA2 mutations have been found to be at increased risk of develo** prostate cancer. There is a recent report that BRCA2 carriers with prostate cancer have poorer survival than noncarrier prostate canc...
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Article
Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers
A recent report based on 68 families, including 17 with mutations in BRCA1, suggested that there was an excess of female offspring born to BRCA1 mutation carriers. We have examined the gender ratio among offsp...
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Chapter
Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome)
The diagnosis and management of hereditary nonpolyposis colorectal cancer (HNPCC), also referred to as the Lynch syndrome, is dependent upon knowledge of its medical-genetic features and its natural history, a...
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Article
Environmental chemical carcinogens induce transformation of breast epithelial cells from women with familial history of breast cancer
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Article
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families
Two founding mutations in BRCA1 and BRCA2 are responsible for a large proportion of Jewish families with the breast-ovarian cancer syndrome.
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Article
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
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Chapter and Conference Paper
Genetic Epidemiology and the Familial Atypical Multiple Mole Melanoma Syndrome
Cutaneous malignant melanoma (CMM) has been increasing in many of the western industrialized nations at a frequency which exceeds that of any other form of cancer (Magnus 1987). This disease has reached epidem...
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Chapter and Conference Paper
Genetics of Common Tumors
Host factors play an exceedingly important role in virtually all forms of cancer. A significant question is: “Are there any cancers, including those which are clearly sporadic by virtue of a negative family histo...
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Chapter and Conference Paper
Medical/Legal Concerns in the Management of Patients from Lynch Syndromes Kindreds
The management of patients affected or at risk for the Lynch Syndromes must focus upon its natural history, early age of onset, predilection for the proximal Colon, excess of synchronous and metachronous Colon...
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Article
Pancreatic carcinoma and hereditary nonpolyposis colorectal cancer: A family study
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Article
Cellular immune function study in an ovarian cancer-prone kindred
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Article
Tumour spectrum in the FAMMM syndrome
The Familial Atypical Multiple Mole-Melanoma Syndrome (FAMMM) is characterized by an autosomal dominantly inherited susceptibility to multiple atypical naevi. Patients with this hereditary phenotype show a str...
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Article
Familial atypical multiple mole melanoma (FAMMM) syndrome: genetic heterogeneity and malignant melanoma
Clinical-pathologic-genetic studies were performed on 3 kindreds showing the familial atypical multiple mole-melanoma syndrome (FAMMM). Findings showed vertical transmission, including father-to-son, of cutane...
