Works matching AU Foulkes, William D
Results: 229
A decade of RAD51C and RAD51D germline variants in cancer.
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- Human Mutation, 2022, v. 43, n. 3, p. 285, doi. 10.1002/humu.24319
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- Article
Reclassification of a frequent African‐origin variant from PMS2 to the pseudogene PMS2CL.
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- Human Mutation, 2020, v. 41, n. 4, p. 749, doi. 10.1002/humu.23978
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- Article
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.
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- Human Mutation, 2019, v. 40, n. 11, p. 1939, doi. 10.1002/humu.23877
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- Article
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
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- Human Mutation, 2019, v. 40, n. 10, p. 1781, doi. 10.1002/humu.23804
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- Article
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
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- Human Mutation, 2019, v. 40, n. 1, p. 36, doi. 10.1002/humu.23676
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- Article
Thorough in silico and in vitro cDNA analysis of 21 putative <italic>BRCA1</italic> and <italic>BRCA2</italic> splice variants and a complex tandem duplication in <italic>BRCA2</italic> allowing the identification of activated cryptic splice donor sites in <italic>BRCA2</italic> exon 11
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- Human Mutation, 2018, v. 39, n. 4, p. 515, doi. 10.1002/humu.23390
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- Article
Family History of Cancer and Cancer Risks in Women with BRCA1 or BRCA2 Mutations.
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- JNCI: Journal of the National Cancer Institute, 2010, v. 102, n. 24, p. 1874, doi. 10.1093/jnci/djq443
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- Article
Re: Estrogen Receptor Status of Primary Breast Cancer Is Predictive of Estrogen Receptor Status of Contralateral Breast Cancer.
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- 2004
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- Letter
Re: Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study.
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- 2003
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- commentary
Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer.
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- 2003
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- Publication type:
- journal article
Re: Potential for Bias in Studies on Efficacy of Prophylactic Surgery for BRCA1 and BRCA2 Mutation Carriers.
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- JNCI: Journal of the National Cancer Institute, 2003, v. 95, n. 17, p. 1344, doi. 10.1093/jnci/djg053
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- Article
A full molecular picture of F8 intron 1 inversion created with optical genome mapping.
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- Haemophilia, 2021, v. 27, n. 5, p. e638, doi. 10.1111/hae.14375
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- Article
Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update.
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- International Journal of Cancer, 2006, v. 118, n. 9, p. 2281, doi. 10.1002/ijc.21536
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- Article
Effect of pregnancy as a risk factor for breast cancer in BRCA1/ BRCA2 mutation carriers.
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- International Journal of Cancer, 2005, v. 117, n. 6, p. 988, doi. 10.1002/ijc.21273
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- Article
Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations.
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- International Journal of Cancer, 2004, v. 112, n. 3, p. 411, doi. 10.1002/ijc.20406
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- Article
Smoking and the risk of breast cancer among carriers of BRCA mutations.
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- International Journal of Cancer, 2004, v. 110, n. 3, p. 413, doi. 10.1002/ijc.20106
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- Article
Risk of pancreatic cancer among individuals with a family history of cancer of the pancreas.
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- International Journal of Cancer, 2002, v. 97, n. 6, p. 807, doi. 10.1002/ijc.10123
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- Article
Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history.
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- International Journal of Cancer, 2001, v. 95, n. 3, p. 189, doi. 10.1002/1097-0215(20010520)95:3<189::AID-IJC1032>3.0.CO;2-N
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- Article
Increased risk of head and neck cancer in association with GSTT1 nullizygosity for individuals with low exposure to tobacco.
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- International Journal of Cancer, 2000, v. 87, n. 3, p. 452, doi. 10.1002/1097-0215(20000801)87:3<452::AID-IJC22>3.0.CO;2-W
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- Article
An absence of founder BRCA2 mutations in individuals with squamous cell carcinoma of the head and neck.
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- International Journal of Cancer, 1999, v. 83, n. 6, p. 803, doi. 10.1002/(SICI)1097-0215(19991210)83:6<803::AID-IJC17>3.0.CO;2-N
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- Article
A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing.
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- Cell Death & Disease, 2021, v. 12, n. 9, p. 1, doi. 10.1038/s41419-021-04130-8
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- Article
Familial Clustering of Parotid Gland Lymphoepithelioma in North America.
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- Journal of Otolaryngology -- Head & Neck Surgery, 2008, v. 37, n. 1, p. 23, doi. 10.2310/7070.2008.0003
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- Article
Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.
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- BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-127
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- Article
BRCA1 mutations contribute to cell motility and invasion by affecting its main regulators.
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- Cell Cycle, 2008, v. 7, n. 23, p. 3781, doi. 10.4161/cc.7.23.6993
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- Article
E6/E7 of HPV Type 16 Promotes Cell Invasion and Metastasis of Human Breast Cancer Cells.
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- Cell Cycle, 2007, v. 6, n. 16, p. 2038, doi. 10.4161/cc.6.16.4555
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- Article
The Basal Phenotype of BRCA1-Related Breast Cancer.
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- Cell Cycle, 2006, v. 5, n. 9, p. 963, doi. 10.4161/cc.5.9.2713
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- Article
A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion‐positive rhabdomyosarcoma.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 11, p. 1, doi. 10.1002/pbc.30651
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- Article
Comment on: Consensus recommendations from the EXPeRT/PARTNER groups for the diagnosis and therapy of sex cord stromal tumors in children and adolescents.
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- Pediatric Blood & Cancer, 2022, v. 69, n. 9, p. 1, doi. 10.1002/pbc.29650
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- Article
A child with neuroblastoma and metachronous anaplastic sarcoma of the kidney: Underlying DICER1 syndrome?
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- 2020
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- Case Study
Retrospective evaluation of a decision-support algorithm (MIPOGG) for genetic referrals for children with neuroblastic tumors.
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- 2018
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- Publication type:
- journal article
Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?
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- 2018
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- Publication type:
- Letter
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?
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- 2018
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- Publication type:
- journal article
The McGill Interactive Pediatric OncoGenetic Guidelines: An approach to identifying pediatric oncology patients most likely to benefit from a genetic evaluation.
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- 2017
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- journal article
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome.
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- 2018
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- Publication type:
- journal article
DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma.
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- 2018
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- Publication type:
- journal article
Moving breast cancer susceptibility gene testing into the mainstream.
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- Medical Journal of Australia, 2023, v. 218, n. 8, p. 359, doi. 10.5694/mja2.51916
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- Article
Hereditary breast cancer: new genetic developments, new therapeutic avenues.
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- Human Genetics, 2008, v. 124, n. 1, p. 31, doi. 10.1007/s00439-008-0529-1
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- Article
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
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- NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-021-00315-8
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- Article
Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63100-w
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- Article
Rare and unusual tumours associated with characteristic molecular events: the importance of specialist pathology review.
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- Histopathology, 2022, v. 81, n. 3, p. 310, doi. 10.1111/his.14699
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- Article
Somatic tumour testing establishes that bilateral DICER1‐associated ovarian Sertoli–Leydig cell tumours represent independent primary neoplasms.
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- Histopathology, 2020, v. 77, n. 2, p. 223, doi. 10.1111/his.14123
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- Article
Expanding the morphological spectrum of ovarian microcystic stromal tumour.
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- Histopathology, 2019, v. 74, n. 3, p. 443, doi. 10.1111/his.13755
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- Article
Clinical, morphological and immunohistochemical evidence that small-cell carcinoma of the ovary of hypercalcaemic type ( SCCOHT) may be a primitive germ-cell neoplasm.
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- Histopathology, 2017, v. 70, n. 7, p. 1147, doi. 10.1111/his.13177
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- Article
Recently characterized molecular events in uncommon gynaecological neoplasms and their clinical importance.
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- Histopathology, 2016, v. 69, n. 6, p. 903, doi. 10.1111/his.13058
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- Publication type:
- Article
Loss of SMARCA4 (BRG1) protein expression as determined by immunohistochemistry in small-cell carcinoma of the ovary, hypercalcaemic type distinguishes these tumours from their mimics.
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- Histopathology, 2016, v. 69, n. 5, p. 727, doi. 10.1111/his.12988
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- Article
Prognostic significance of CD8.
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- Histopathology, 2011, v. 58, n. 7, p. 1107, doi. 10.1111/j.1365-2559.2011.03846.x
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- Publication type:
- Article
Cyclin D1 is essential for neoplastic transformation induced by both E6/E7 and E6/E7/ErbB-2 cooperation in normal cells.
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- Oncogene, 2004, v. 23, n. 30, p. 5252, doi. 10.1038/sj.onc.1207679
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- Article
Achieving clinical success with BET inhibitors as anti-cancer agents.
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- 2021
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- Publication type:
- journal article
Oestrogen receptor status and survival in women with BRCA2-associated breast cancer.
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- 2019
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- Publication type:
- journal article
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
- Published in:
- 2017
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- Publication type:
- journal article