Faculty profile

Zaki El Haffaf

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ProfessorDépartement de médecineUniversité de Montréal

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Research

Read how they describe their research on their Université de Montréal profile.

Latest papers

The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers.
International journal of molecular sciences · 2026
Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis Complex.
Neurology. Genetics · 2025
PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada.
Clinical genetics · 2025

All 17 publications

17 publications.

The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers.

Alenezi WM, Milano L, Fierheller CT, Serruya C, Revil T, Oros KK, Bruce JP, Spiegelman D, Pugh T, Mes-Masson AM, Provencher D, Foulkes WD, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CMT, Ragoussis J, Masson JY, Tonin PN

International journal of molecular sciences20261 citationsOpen Access

DOI: 10.3390/ijms27021037 PMID: 41596682

Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis Complex.

Li J, El Haffaf Z, Lattouf JB, Major P, Keezer MR

Neurology. Genetics20254 citationsOpen Access

DOI: 10.1212/nxg.0000000000200275 PMID: 40612764

PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada.

Chong AL, Mejia-Garcia A, Behl S, El Haffaf Z, Chénier S, Maranda B, Désilets V, Lévesque S, Castonguay L, Mes-Masson AM, Giroux S, Rousseau F, Hamel N, Chong G, Gravel S, Foulkes WD

Clinical genetics20254 citationsOpen Access

DOI: 10.1111/cge.14784 PMID: 40546006

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.

Fierheller CT, Alenezi WM, Serruya C, Revil T, Amuzu S, Bedard K, Subramanian DN, Fewings E, Bruce JP, Prokopec S, Bouchard L, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Tischkowitz M, Campbell IG, Pugh TJ, Greenwood CMT, Ragoussis J, Tonin PN

Genes202310 citationsOpen Access

DOI: 10.3390/genes14020277 PMID: 36833203

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.

Claire Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y

Genetics in medicine : official journal of the American College of Medical Genetics2023

DOI: 10.1016/j.gim.2022.11.016 PMID: 36571464

A decade of RAD51C and RAD51D germline variants in cancer.

Boni J, Idani A, Roca C, Feliubadaló L, Tomiak E, Weber E, Foulkes WD, Orthwein A, El Haffaf Z, Lazaro C, Rivera B

Human mutation202223 citationsOpen Access

DOI: 10.1002/humu.24319 PMID: 34923718

The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.

Alenezi WM, Milano L, Fierheller CT, Serruya C, Revil T, Oros KK, Behl S, Arcand SL, Nayar P, Spiegelman D, Gravel S, Mes-Masson AM, Provencher D, Foulkes WD, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CMT, Masson JY, Ragoussis J, Tonin PN

Cancers202211 citationsOpen Access

DOI: 10.3390/cancers14092251 PMID: 35565380

Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.

Alenezi WM, Fierheller CT, Revil T, Serruya C, Mes-Masson AM, Foulkes WD, Provencher D, El Haffaf Z, Ragoussis J, Tonin PN

Genes20228 citationsOpen Access

DOI: 10.3390/genes13040697 PMID: 35456503

Genetic Dissection of Primary Aldosteronism in a Patient With MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma

Stéfanie Parisien‐La Salle, Gilles Corbeil, Zaki El-Haffaf, Caroline Duranceau, Mathieu Latour, Pierre I. Karakiewicz, André Lacroix, Isabelle Bourdeau

The Journal of Clinical Endocrinology & Metabolism20226 citations

DOI: 10.1210/clinem/dgac564 PMID: 36179244

Amyloid Deposits in a Functionally Unicuspid Stenotic Aortic Valve.

Zenses AS, Leduc C, Béchard S, Forcillo J, El Haffaf Z, Do QB, Pibarot P, Tournoux F

CJC open20221 citationsOpen Access

DOI: 10.1016/j.cjco.2022.09.002 PMID: 36562019

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Zaki El Haffaf

Research

Latest papers

The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers.

Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis Complex.

PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada.

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.

A decade of RAD51C and RAD51D germline variants in cancer.

The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.

Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.

Genetic Dissection of Primary Aldosteronism in a Patient With MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma

Amyloid Deposits in a Functionally Unicuspid Stenotic Aortic Valve.

Frequent collaborators

William Foulkes

Anne-Marie Mes-Masson

Patricia Tonin

Luigi Bouchard

Trevor Pugh

Jean-Yves Masson

Celia Greenwood

Cindy Greenwood

Michel Dorval

Simon Gravel

Guy Rouleau

Alexandre Orthwein

Charles Leduc

Eva Tomiak

Irene Andrulis

Adrienne Atayan

Evan Weber

George Zogopoulos

Kelly Metcalfe

Bruno Maranda

François Rousseau