User profiles for "author:Catherine Goudie"
Catherine GoudieAssistant Professor, McGill University Verified email at mcgill.ca Cited by 572 |
Small-cell carcinoma of the ovary of hypercalcemic type (malignant rhabdoid tumor of the ovary): a review with recent developments on pathogenesis
Small-cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is a highly malignant
and aggressive tumor and is the most common undifferentiated ovarian malignancy to occur …
and aggressive tumor and is the most common undifferentiated ovarian malignancy to occur …
[HTML][HTML] The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations
A Villani, S Davidson, N Kanwar, WW Lo, Y Li… - Nature Cancer, 2023 - nature.com
We conducted integrative somatic–germline analyses by deeply sequencing 864 cancer-
associated genes, complete genomes and transcriptomes for 300 mostly previously treated …
associated genes, complete genomes and transcriptomes for 300 mostly previously treated …
The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type
Objective Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is an aggressive
tumor, with long term survival at~ 30% in early stage disease. SCCOHT is caused by …
tumor, with long term survival at~ 30% in early stage disease. SCCOHT is caused by …
[HTML][HTML] Survival benefit for individuals with constitutional mismatch repair deficiency undergoing surveillance
PURPOSE Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer
predisposition syndrome characterized by early-onset synchronous and metachronous …
predisposition syndrome characterized by early-onset synchronous and metachronous …
Performance of the McGill interactive pediatric oncogenetic guidelines for identifying cancer predisposition syndromes
C Goudie, L Witkowski, N Cullinan, L Reichman… - JAMA …, 2021 - jamanetwork.com
Importance Prompt recognition of a child with a cancer predisposition syndrome (CPS) has
implications for cancer management, surveillance, genetic counseling, and cascade testing …
implications for cancer management, surveillance, genetic counseling, and cascade testing …
A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion‐positive rhabdomyosarcoma
C Freycon, PJ Lupo, L Witkowski, C Budd… - Pediatric Blood & …, 2023 - Wiley Online Library
Several cancer predisposition syndromes (CPS) are reported to predispose to
rhabdomyosarcoma, most frequently in children with embryonal rhabdomyosarcoma. There …
rhabdomyosarcoma, most frequently in children with embryonal rhabdomyosarcoma. There …
[HTML][HTML] Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common
undifferentiated ovarian malignancy diagnosed in women under age 40. We and others …
undifferentiated ovarian malignancy diagnosed in women under age 40. We and others …
Paediatric ovarian tumours and their associated cancer susceptibility syndromes
C Goudie, L Witkowski, S Vairy… - Journal of Medical …, 2018 - jmg.bmj.com
Non-epithelial ovarian tumours are rare neoplasms that occasionally arise in childhood and
adolescence. They can be associated with various cancer susceptibility syndromes. The …
adolescence. They can be associated with various cancer susceptibility syndromes. The …
The McGill Interactive Pediatric OncoGenetic Guidelines: an approach to identifying pediatric oncology patients most likely to benefit from a genetic evaluation
C Goudie, H Coltin, L Witkowski… - Pediatric blood & …, 2017 - Wiley Online Library
Identifying cancer predisposition syndromes in children with tumors is crucial, yet few clinical
guidelines exist to identify children at high risk of having germline mutations. The McGill …
guidelines exist to identify children at high risk of having germline mutations. The McGill …
[HTML][HTML] Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma
Background: Sarcomas are rare and heterogeneous cancers. We assessed the contribution
of DICER1 mutations to sarcoma development. Methods: The coding region of DICER1 was …
of DICER1 mutations to sarcoma development. Methods: The coding region of DICER1 was …