Kathy Tucker
A5055968994- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Family Support in Illness
- Prenatal Screening and Diagnostics
- Childhood Cancer Survivors' Quality of Life
- Nutrition, Genetics, and Disease
- Ethics in Clinical Research
- Ovarian cancer diagnosis and treatment
- DNA Repair Mechanisms
- Colorectal Cancer Screening and Detection
- Neuroblastoma Research and Treatments
- Global Cancer Incidence and Screening
- Ethics and Legal Issues in Pediatric Healthcare
- Patient-Provider Communication in Healthcare
- Genomic variations and chromosomal abnormalities
- Testicular diseases and treatments
- Glioma Diagnosis and Treatment
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- CRISPR and Genetic Engineering
- Multiple and Secondary Primary Cancers
- Health Systems, Economic Evaluations, Quality of Life
- Genetic Associations and Epidemiology
- PARP inhibition in cancer therapy
Prince of Wales Hospital
2016-2025
UNSW Sydney
2016-2025
Sydney Children's Hospital
2023-2025
Portland State University
2025
Sydney Children’s Hospitals Network
2023-2025
University of Michigan–Ann Arbor
2020-2022
Walden University
2022
Cancer Clinic
1999-2020
Prince of Wales Hospital
2020
University of Massachusetts Lowell
2018
Lynch syndrome is a highly penetrant cancer predisposition caused by germline mutations in DNA mismatch repair (MMR) genes. We estimated the risks of primary cancers other than colorectal following diagnosis mutation carriers. obtained data from Colon Cancer Family Registry for 764 carriers an MMR gene (316 MLH1, 357 MSH2, 49 MSH6, and 42 PMS2), who had previous cancer. The Kaplan–Meier method was used to estimate their cumulative risk 10 20 years after age-, sex-, country- calendar...
Abstract Mendelian-like inheritance of germline DNA methylation in cancer susceptibility genes has been previously reported. We aimed to scan the genome for heritable marks associated with breast by studying 25 Australian multiple-case families. Here we report genome-wide measured 210 peripheral blood samples provided family members using Infinium HumanMethylation450. develop and apply a new statistical method identify based on complex segregation analysis. estimate carrier probabilities...
Cancer genetics has to date focused on epithelial malignancies, identifying multiple histotype-specific pathways underlying cancer susceptibility. Sarcomas are rare malignancies predominantly derived from embryonic mesoderm. To identify specific mesenchymal cancers, we performed whole-genome germline sequencing 1644 sporadic cases and 3205 matched healthy elderly controls. Using an extreme phenotype design, a combined rare-variant burden ontologic analysis identified two sarcoma-specific...
The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) is a multidisciplinary, collaborative framework the investigation of familial breast cancer. Based in Australia, primary aim kConFab to facilitate high-quality research by amassing large and comprehensive resource epidemiological clinical data with biospecimens from individuals at high risk and/or ovarian cancer, their close relatives. Epidemiological, family history lifestyle data, as well...
A family history of disease is a strong risk factor for testicular germ cell tumour (TGCT). In order to identify the location putative TGCT susceptibility gene(s) we conducted linkage search in 237 pedigrees with two or more cases TGCT. One hundred and seventy-nine were evaluated genome-wide an average inter-marker distance 10 cM. An additional 58 used intensively investigate several genomic regions interest. Genetic analysis was performed ALLEGRO software using model-based parametric...
This longitudinal study aimed to document (i) the information-giving and patient-communication styles of clinical geneticists genetic counsellors (consultants) in familial breast cancer clinics (ii) assess effect these on women's knowledge, whether their expectations were met, satisfaction, risk perception psychological status. A total 158 women from high-risk families completed self-report questionnaires at 2 weeks preconsultation 4 postconsultation. The consultations audiotaped,...
Understanding the effect of oral contraceptives on risk breast cancer in BRCA1 or BRCA2 mutation carriers is important because contraceptive use a common, modifiable practice.We studied 497 and 307 carriers, whom 195 128, respectively, had been diagnosed with cancer. Case-control analyses were conducted using unconditional logistic regression adjustments for family history familial relationships restricted to subjects reference age under 50 years.For there was no significant association...
Background Clinical classification of rare sequence changes identified in the breast cancer susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic counselling individuals carrying these variants. We previously showed that variant c.5096G>A p.Arg1699Gln transcriptional transactivation domain demonstrated equivocal results from a series functional assays, proposed this may confer low to moderate risk cancer. Methods Measures (report family history, segregation) were assessed...
Abstract Purpose: The recognition of breast cancer as a spectrum tumor in Lynch syndrome remains controversial. aim this study was to explore features cancers arising families. Experimental Design: This observational involved 107 cases identified from the Colorectal Cancer Family Registry (Colon CFR) 90 families which (a) both and colon co-occurred, (b) met either modified Amsterdam criteria, or had at least one early-onset (<50 years) colorectal cancer, (c) tissue available within...
Serrated polyposis (hyperplastic polyposis) is characterized by multiple polyps with serrated architecture in the colorectum. Although patients are known to be at increased risk of colorectal cancer (CRC) and possibly extracolonic cancers, for their relatives has not been widely explored. The aim this study was estimate risks CRC cancers polyposis.A cohort 1,639 first- second-degree 100 index recruited regardless a family history or from genetic clinics Australia, New Zealand, Canada, USA,...
Background We previously showed that the BRCA1 variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian (OC). This study aimed to assess these risks for R1699Q carriers in a larger cohort, including follow-up studied families, further define propose adjusted clinical management female *R1699Q carriers. Methods Data were collected from 129 families ascertained internationally by ENIGMA (Evidence-based Network Interpretation Germline...
PURPOSE: To assess intention to undergo prophylactic bilateral mastectomy and psychologic determinants in unaffected women at increased risk of developing hereditary breast cancer. PATIENTS AND METHODS: Three hundred thirty-three who were awaiting their initial appointments for assessment, advice about surveillance, options one 14 familial cancer clinics participated a cross-sectional, questionnaire-based survey. RESULTS: Nineteen percent would consider 47% not mastectomy, should genetic...
Somatic mutations of the KIT gene have been reported in mast cell diseases and gastrointestinal stromal tumours. Recently, they also found mediastinal testicular germ tumours (TGCTs), particularly cases with bilateral disease. We screened coding sequence (except exon 1) for germline 240 pedigrees two or more TGCT. No were found. Exons 10, 11 17 examined somatic 123 TGCT from 93 multiple-case cancer families. Five identified; four missense amino-acid substitutions one was a 12 bp in-frame...
Background Patients with multiple serrated polyps are at an increased risk for developing colorectal cancer (CRC). Recent reports have linked cigarette smoking the subset of CRC that develops from polyps. The aim this work therefore was to investigate association between and in high-risk genetics clinic patients presenting Methods Findings We identified 151 Caucasian individuals including least 5 outside rectum, classified into non-smokers, current or former smokers time initial diagnosis...