Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Eva Tomiak"'
Autor:
Alison Rusnak, Shawna Morrison, Erika Smith, Valerie Hastings, Kelly Anderson, Caitlin Aldridge, Sari Zelenietz, Karen Reddick, Sonia Regnier, Ellen Alie, Nayaar Islam, Rutaaba Fasih, Susan Peddle, Erin Cordeiro, Eva Tomiak, Jean M. Seely
Publikováno v:
Current Oncology, Vol 29, Iss 11, Pp 8742-8750 (2022)
Breast tissue density (BTD) is known to increase the risk of breast cancer but is not routinely used in the risk assessment of the population-based High-Risk Ontario Breast Screening Program (HROBSP). This prospective, IRB-approved study assessed the
Externí odkaz:
https://doaj.org/article/dee42803ed58435f8e7b4ac738654377
Autor:
William D. Foulkes, Alexandre Orthwein, Patricia N. Tonin, Christopher J. Lord, Mohammad R. Akbari, Steven A. Narod, Reiner Siebert, Susanne Bens, Jacek Majewski, Anne-Marie Mes-Masson, Jacques L. Michaud, Guy A. Rouleau, Diane Provencher, Albert M. Berghuis, Francois Rousseau, George Zogopoulos, Alexandre Dionne-Laporte, Fadi F. Hamdan, Sylvie Giroux, Olga Aleynikova, Rabea Wagener, Nancy Hamel, Valerie Hastings, Eva Tomiak, Damien Grapton, David L. Burk, Suzanna L. Arcand, Somayyeh Fahiminiya, Javad Nadaf, Jessica Frankum, Massimo Di Iorio, Barbara Rivera
'Supplementary Table S2- Somatic mutations identified in the tumors from individuals III.6; III.7 and III.8 in family 1 and individual III.1 in family 2 among 193 DNA repair genes.'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::369000d8c9d62bb2c1e36e02e21dc78f
https://doi.org/10.1158/0008-5472.22414869.v1
https://doi.org/10.1158/0008-5472.22414869.v1
Autor:
William D. Foulkes, Alexandre Orthwein, Patricia N. Tonin, Christopher J. Lord, Mohammad R. Akbari, Steven A. Narod, Reiner Siebert, Susanne Bens, Jacek Majewski, Anne-Marie Mes-Masson, Jacques L. Michaud, Guy A. Rouleau, Diane Provencher, Albert M. Berghuis, Francois Rousseau, George Zogopoulos, Alexandre Dionne-Laporte, Fadi F. Hamdan, Sylvie Giroux, Olga Aleynikova, Rabea Wagener, Nancy Hamel, Valerie Hastings, Eva Tomiak, Damien Grapton, David L. Burk, Suzanna L. Arcand, Somayyeh Fahiminiya, Javad Nadaf, Jessica Frankum, Massimo Di Iorio, Barbara Rivera
This file includes supplementary Figure S1, Supplementary Figure S2 and Supplementary Figure S3. It also includes Supplementary Table S1 - RAD51D c.620C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71788fdaf41387d0575150ff4e63b88d
https://doi.org/10.1158/0008-5472.22414863.v1
https://doi.org/10.1158/0008-5472.22414863.v1
Autor:
William D. Foulkes, Alexandre Orthwein, Patricia N. Tonin, Christopher J. Lord, Mohammad R. Akbari, Steven A. Narod, Reiner Siebert, Susanne Bens, Jacek Majewski, Anne-Marie Mes-Masson, Jacques L. Michaud, Guy A. Rouleau, Diane Provencher, Albert M. Berghuis, Francois Rousseau, George Zogopoulos, Alexandre Dionne-Laporte, Fadi F. Hamdan, Sylvie Giroux, Olga Aleynikova, Rabea Wagener, Nancy Hamel, Valerie Hastings, Eva Tomiak, Damien Grapton, David L. Burk, Suzanna L. Arcand, Somayyeh Fahiminiya, Javad Nadaf, Jessica Frankum, Massimo Di Iorio, Barbara Rivera
'Supplementary Table3 -Presence of allelic imbalanced alleles in RAD51D and TP53 somatic mutations in RAD51D c.620C>T;p.S207L HGSC carriers.'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e0bafeeb6dd8be89a2dc3acd1a2ee99
https://doi.org/10.1158/0008-5472.22414866
https://doi.org/10.1158/0008-5472.22414866
Autor:
William D. Foulkes, Alexandre Orthwein, Patricia N. Tonin, Christopher J. Lord, Mohammad R. Akbari, Steven A. Narod, Reiner Siebert, Susanne Bens, Jacek Majewski, Anne-Marie Mes-Masson, Jacques L. Michaud, Guy A. Rouleau, Diane Provencher, Albert M. Berghuis, Francois Rousseau, George Zogopoulos, Alexandre Dionne-Laporte, Fadi F. Hamdan, Sylvie Giroux, Olga Aleynikova, Rabea Wagener, Nancy Hamel, Valerie Hastings, Eva Tomiak, Damien Grapton, David L. Burk, Suzanna L. Arcand, Somayyeh Fahiminiya, Javad Nadaf, Jessica Frankum, Massimo Di Iorio, Barbara Rivera
RAD51D is a key player in DNA repair by homologous recombination (HR), and RAD51D truncating variant carriers have an increased risk for ovarian cancer. However, the contribution of nontruncating RAD51D variants to cancer predisposition remains uncer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7c1fda50beb24af86d523282dd71f2c
https://doi.org/10.1158/0008-5472.c.6509097.v1
https://doi.org/10.1158/0008-5472.c.6509097.v1
Autor:
Jacopo Boni, Aida Idani, Carla Roca, Lidia Feliubadaló, Eva Tomiak, Evan Weber, William D. Foulkes, Alexandre Orthwein, Zaki El Haffaf, Conxi Lazaro, Barbara Rivera
Publikováno v:
Human mutationREFERENCES. 43(3)
Defects in DNA repair genes have been extensively associated with cancer susceptibility. Germline pathogenic variants (GPV) in genes involved in homologous recombination repair pathways predispose to cancers arising mainly in the breast and ovary, bu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3dc023cc0cdd2d155ba9c970edb8c02
https://pubmed.ncbi.nlm.nih.gov/34923718
https://pubmed.ncbi.nlm.nih.gov/34923718
Autor:
Janice L. Barkey, Eva Tomiak, Katherine A. Moreau, Alexander Maisonneuve, André Samson, Andrea Too
Publikováno v:
Psychology, healthmedicine. 27(9)
While much research has been conducted on the experiences of individuals with inflammatory bowel diseases, there remains a dearth of research conducted on those affected by polyposis conditions. As a result, little is known about the lived experience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1de61441f1f5e1fa67e664bbe2de2e13
https://pubmed.ncbi.nlm.nih.gov/34649483
https://pubmed.ncbi.nlm.nih.gov/34649483
Autor:
Jacopo Boni, Aida Idani, Carla Roca, Lídia Feliubadaló, Eva Tomiak, Evan Weber, William Foulkes, Alex Orthwein, Zaki el Haffaf, Conxi Lazaro, Barbara Rivera
Defects in DNA repair genes have been extensively associated to cancer susceptibility. Germline pathogenic variants (GPV) in genes involved in homologous recombination repair pathway predispose to cancers arising mainly in breast and ovary, but also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a52e172df8473638998948a6275e9081
https://doi.org/10.22541/au.163253770.09513513/v1
https://doi.org/10.22541/au.163253770.09513513/v1
Publikováno v:
Current Oncology
Volume 24
Issue 6
Pages 3710-445
Volume 24
Issue 6
Pages 3710-445
We set out to identify and offer genetic testing to the 5%&ndash
10% of pediatric cancer patients who have been estimated to carry germline mutations in inherited cancer predisposition syndromes. Clinical genetic testing has become widely availa
10% of pediatric cancer patients who have been estimated to carry germline mutations in inherited cancer predisposition syndromes. Clinical genetic testing has become widely availa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49870d672e4f394eab6d746486f89e66
https://doi.org/10.3747/co.24.3710
https://doi.org/10.3747/co.24.3710
Autor:
Erick Sell, Eva Tomiak, Matthew A. Lines, Sarah L. Sawyer, Addo Boafo, Julie Richer, Denice Lewis, Christine M. Armour, Jorge Davila, Sarah M. Nikkel, Tugce B. Balci
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177:101-109
White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features associated with PTEN mutations, such as autism spectrum disorder (ASD) or developmental delay
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdcb0b5902152261bc4141cdd1189f17
https://doi.org/10.1002/ajmg.b.32610
https://doi.org/10.1002/ajmg.b.32610