Marc Tischkowitz

Cancer incidence in relatives of British Fanconi Anaemia patients (2008)

Tischkowitz, Marc, Easton, Douglas F, Ball, Jan, Hodgson, Shirley V, Mathew, Christopher G

Abstract Background Fanconi anemia (FA) is an autosomal recessive DNA repair disorder with affected individuals having a high risk of developing acute myeloid leukaemia and certain solid tumours....

Identification of a novel truncating PALB2mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women (2007)

Foulkes, William D, Ghadirian, Parviz, Akbari, Mohammed, Hamel, Nancy, Giroux, Sylvie, Sabbaghian, Nelly, ...

Abstract Background PALB2 has recently been identified as a breast cancer susceptibility gene. PALB2 mutations are rare causes of hereditary breast cancer but may be important in countries such as...

Germline CDKN1B/p27(Kip1) mutation in multiple endocrine neoplasia (2007)

Georgitsi, Marianthi, Raitila, Anniina, Karhu, Auli, Van Der Luijt, Rob B., Aalfs, Cora M., Sane, Timo, ...

Context: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a...

Use of immunohistochemical markers can refine prognosis in triple negative breast cancer (2007)

Tischkowitz, Marc, Brunet, Jean-Sébastien, Bégin, Louis R, Huntsman, David G, Cheang, Maggie CU, Akslen, Lars A, ...

Abstract Background Basal-like breast cancer has been extensively characterized on the basis of gene expression profiles, but it is becoming increasingly common for these tumors to be defined on the...

Use of immunohistochemical markers can refine prognosis in triple negative breast cancer (2007)

Tischkowitz, Marc, Brunet, Jean-Sébastien, Bégin, Louis R., Huntsman, David G., Cheang, Maggie C. U., Akslen, Lars A., ...

Background: Basal-like breast cancer has been extensively characterized on the basis of gene expression profiles, but it is becoming increasingly common for these tumors to be defined on the basis of...

Analysis of PALB2/FANCN-associated breast cancer families

Tischkowitz, Marc, Xia, Bing, Sabbaghian, Nelly, Reis-Filho, Jorge S., Hamel, Nancy, Li, Guilan, ...

No more than ≈30% of hereditary breast cancer has been accounted for by mutations in known genes. Most of these genes, such as BRCA1, BRCA2, TP53, CHEK2, ATM, and FANCJ/BRIP1, function in DNA...