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1.

miRNA biogenesis and inherited disorders: clinico-molecular insights.

Pelletier, Dylan; Rivera, Barbara; Fabian, Marc R; Foulkes, William D.

Trends Genet ; 39(5): 401-414, 2023 05.

Artículo en Inglés | MEDLINE | ID: mdl-36863945

2.

Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.

Farncombe, Kirsten M; Wong, Derek; Norman, Maia L; Oldfield, Leslie E; Sobotka, Julia A; Basik, Mark; Bombard, Yvonne; Carile, Victoria; Dawson, Lesa; Foulkes, William D; Malkin, David; Karsan, Aly; Parkin, Patricia; Penney, Lynette S; Pollett, Aaron; Schrader, Kasmintan A; Pugh, Trevor J; Kim, Raymond H.

Am J Hum Genet ; 110(10): 1616-1627, 2023 10 05.

Artículo en Inglés | MEDLINE | ID: mdl-37802042

3.

Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.

Clark, Kathleen A; Paquette, Andrew; Tao, Kayoko; Bell, Russell; Boyle, Julie L; Rosenthal, Judith; Snow, Angela K; Stark, Alex W; Thompson, Bryony A; Unger, Joshua; Gertz, Jason; Varley, Katherine E; Boucher, Kenneth M; Goldgar, David E; Foulkes, William D; Thomas, Alun; Tavtigian, Sean V.

Am J Hum Genet ; 109(6): 1153-1174, 2022 06 02.

Artículo en Inglés | MEDLINE | ID: mdl-35659930

4.

BRCA1 and friends 30 years on.

Foulkes, William D.

Nat Rev Genet ; 2024 Jun 17.

Artículo en Inglés | MEDLINE | ID: mdl-38886216

5.

Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.

Ouchene, Lydia; Wilde, Blake; Chan-Pak-Choon, Fiona; Camacho Valenzuela, Jose; Brimo, Fadi; Witkowski, Leora; Christofk, Heather; Domecq, Celine; Fu, Lili; Weber, Evan; Lemieux Anglin, Brianna; Netchiporouk, Elena; Foulkes, William D.

Genes Chromosomes Cancer ; 63(2): e23221, 2024 02.

Artículo en Inglés | MEDLINE | ID: mdl-38682608

6.

Dedifferentiated and Undifferentiated Ovarian Carcinoma: An Aggressive and Molecularly Distinct Ovarian Tumor Characterized by Frequent SWI/SNF Complex Inactivation.

Tessier-Cloutier, Basile; Kommoss, Felix K F; Kolin, David L; Nemejcová, Kristýna; Smith, DuPreez; Pors, Jennifer; Stewart, Colin J R; McCluggage, W Glenn; Foulkes, William D; von Deimling, Andreas; Köbel, Martin; Lee, Cheng-Han.

Mod Pathol ; 37(1): 100374, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-37925057

7.

Awareness and Candidacy for Endocrine Prevention and Risk Reducing Mastectomy in Unaffected High-Risk Women Referred for Breast Cancer Risk Assessment.

Alhassan, Basmah; Rjeily, Marianne Bou; Villareal-Corpuz, Victor; Prakash, Ipshita; Basik, Mark; Boileau, Jean Francois; Martel, Karyne; Pollak, Michael; Foulkes, William D; Wong, Stephanie M.

Ann Surg Oncol ; 31(2): 981-987, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-37973648

8.

Surgical Decision Making in Genetically High-Risk Women: Quantifying Postoperative Complications and Long-Term Risks of Supplemental Surgery After Risk-Reducing Mastectomy.

Apostolova, Carla; Ferroum, Amina; Alhassan, Basmah; Prakash, Ipshita; Viezel-Mathieu, Alex; Basik, Mark; Boileau, Jean Francois; Meterissian, Sarkis; Wong, Nora; Foulkes, William D; Wong, Stephanie M.

Ann Surg Oncol ; 31(1): 356-364, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-37838650

9.

Teratoma-associated and so-called pure Wilms tumour of the ovary represent two separate tumour types with distinct molecular features.

Kommoss, Felix K F; Chong, Anne-Sophie; Apellaniz-Ruiz, Maria; Turashvili, Gulisa; Park, Kay J; Hanley, Krisztina; Valera, Elvis Terci; von Deimling, Andreas; Vujanic, Gordan; McCluggage, W Glenn; Foulkes, William D.

Histopathology ; 84(4): 683-696, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38084641

10.

SMARCB1 (INI1) Deficient Tumours of the Uterine Cervix: Report of Two Cases, Including One Associated With an NTRK Fusion.

Razack, Rubina; Butt, Jennifer L; Hostein, Isabelle; Velasco, Valerie; Croce, Sabrina; Olory, Carel; Fu, Lili; Foulkes, William D; McCluggage, W Glenn.

Int J Gynecol Pathol ; 2024 Jan 22.

Artículo en Inglés | MEDLINE | ID: mdl-38289183

11.

Germline pathogenic SMARCA4 variants in neuroblastoma.

Witkowski, Leora; Nichols, Kim E; Jongmans, Marjolijn; van Engelen, Nienke; de Krijger, Ronald R; Herrera-Mullar, Jennifer; Tytgat, Lieve; Bahrami, Armita; Mar Fan, Helen; Davidson, Aimee L; Robertson, Thomas; Anderson, Michael; Hasselblatt, Martin; Plon, Sharon E; Foulkes, William D.

J Med Genet ; 60(10): 987-992, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-36813544

12.

Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes.

Hebert, Robyn; Cullinan, Noelle; Armstrong, Linlea; Blood, Katherine A; Brossard, Josee; Brunga, Ledia; Cacciotti, Chantel; Caswell, Kimberly; Cellot, Sonia; Coltin, Hallie; Deyell, Rebecca J; Felton, Kathleen; Fernandez, Conrad V; Fleming, Adam J; Gibson, Paul; Hammad, Rawan; Jabado, Nada; Johnston, Donna L; Lafay-Cousin, Lucie; Larouche, Valérie; Leblanc-Desrochers, Cassandra; Michaeli, Orli; Perrier, Renee; Pike, Meghan; Say, Jemma; Schiller, Ian; Toupin, Annie-Kim; Vairy, Stéphanie; van Engelen, Kalene; Waespe, Nicolas; Villani, Anita; Foulkes, William D; Malkin, David; Reichman, Lara; Goudie, Catherine.

J Med Genet ; 60(12): 1218-1223, 2023 Nov 27.

Artículo en Inglés | MEDLINE | ID: mdl-37460202

13.

Recurrent primary intracranial sarcoma, DICER1-mutant in a pediatric patient with DICER1 syndrome: the importance of molecular testing.

Lachance, Alexandre; Dimentberg, Evan; Huang, Sidong; Bergeron-Gravel, Samuel; Bouffet, Éric; Fonseca, Adriana; Crevier, Louis; Saikali, Stephan; Bourget, Catherine; Giannakouros, Panagiota; Faury, Damien; Jabado, Nada; Foulkes, William D; Larouche, Valérie; Renzi, Samuele.

Childs Nerv Syst ; 40(6): 1965-1969, 2024 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-38478067

14.

The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations.

Narod, Steven A; Metcalfe, Kelly; Finch, Amy; Chan, An-Wen; Armel, Susan Randall; Aeilts, Amber; Eisen, Andrea; Karlan, Beth; Bordeleau, Louise; Tung, Nadine; Foulkes, William D; Neuhausen, Susan L; Eng, Charis; Olopade, Olufunmilayo; Zakalik, Dana; Couch, Fergus; Cullinane, Carey; Pal, Tuya; Sun, Ping; Kotsopoulos, Joanne.

Hered Cancer Clin Pract ; 22(1): 7, 2024 May 13.

Artículo en Inglés | MEDLINE | ID: mdl-38741145

15.

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

Hatton, Jessica N; Frone, Megan N; Cox, Hannah C; Crowley, Stephanie B; Hiraki, Susan; Yokoyama, Noriko N; Abul-Husn, Noura S; Amatruda, James F; Anderson, Michael J; Bofill-De Ros, Xavier; Carr, Ann G; Chao, Elizabeth C; Chen, Kenneth S; Gu, Shuo; Higgs, Cecilia; Machado, Jerry; Ritter, Deborah; Schultz, Kris Ann; Soper, Emily R; Wu, Mona K; Mester, Jessica L; Kim, Jung; Foulkes, William D; Witkowski, Leora; Stewart, Douglas R.

Hum Mutat ; 20232023.

Artículo en Inglés | MEDLINE | ID: mdl-38084291

16.

The risks of cancer in older women with BRCA pathogenic variants: How far have we come?

Metcalfe, Kelly A; Gronwald, Jacek; Tung, Nadine M; McCuaig, Jeanna M; Eisen, Andrea; Elser, Christine; Foulkes, William D; Neuhausen, Susan L; Senter, Leigha; Moller, Pal; Bordeleau, Louise; Fruscio, Robert; Velsher, Lea; Zakalik, Dana; Olopade, Olufunmilayo I; Eng, Charis; Pal, Tuya; Cullinane, Carey A; Couch, Fergus J; Kotsopoulos, Joanne; Sun, Ping; Lubinski, Jan; Narod, Steven A.

Cancer ; 129(6): 901-907, 2023 03 15.

Artículo en Inglés | MEDLINE | ID: mdl-36571512

17.

Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation.

Kotsopoulos, Joanne; Gronwald, Jacek; Huzarski, Tomasz; Aeilts, Amber; Randall Armel, Susan; Karlan, Beth; Singer, Christian F; Eisen, Andrea; Tung, Nadine; Olopade, Olufunmilayo; Bordeleau, Louise; Eng, Charis; Foulkes, William D; Neuhausen, Susan L; Cullinane, Carey A; Pal, Tuya; Fruscio, Robert; Lubinski, Jan; Metcalfe, Kelly; Sun, Ping; Narod, Steven A.

Breast Cancer Res Treat ; 201(2): 257-264, 2023 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-37432545

18.

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Hanson, Helen; Astiazaran-Symonds, Esteban; Amendola, Laura M; Balmaña, Judith; Foulkes, William D; James, Paul; Klugman, Susan; Ngeow, Joanne; Schmutzler, Rita; Voian, Nicoleta; Wick, Myra J; Pal, Tuya; Tischkowitz, Marc; Stewart, Douglas R.

Genet Med ; 25(10): 100870, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37490054

19.

A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion-positive rhabdomyosarcoma.

Freycon, Claire; Lupo, Philip J; Witkowski, Leora; Budd, Crystal; Foulkes, William D; Goudie, Catherine.

Pediatr Blood Cancer ; 70(11): e30651, 2023 11.

Artículo en Inglés | MEDLINE | ID: mdl-37638828

20.

SWI/SNF-deficient undifferentiated malignancies: where to draw the line.

Tessier-Cloutier, Basile; Kleinman, Claudia L; Foulkes, William D.

J Pathol ; 256(2): 139-142, 2022 02.

Artículo en Inglés | MEDLINE | ID: mdl-34767264

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