Clinical implications of the p53 tumor-suppressor gene

CC Harris, M Hollstein - New England Journal of Medicine, 1993 - Mass Medical Soc
The crucial differences between normal cells and cancer cells stem from discrete changes in
specific genes controlling proliferation and tissue homeostasis. Over 100 such cancer …

Genetic and hormonal risk factors in breast cancer

AM Martin, BL Weber - Journal of the National Cancer Institute, 2000 - academic.oup.com
Breast cancer poses a serious public health problem, and it is hoped that identification of
genetic and environmental factors that contribute to the development of breast cancer will …

Prevalence and Diversity of Constitutional Mutations in the p53 Gene among 21 Li-Fraumeni Families

JM Birch, AL Hartley, KJ Tricker, J Prosser, A Condie… - Cancer research, 1994 - AACR
The entire coding sequence of the p53 gene was analysed for the presence of mutations in
12 families conforming to a restricted definition of Li-Fraumeni syndrome (classic LFS) and …

Li–Fraumeni syndrome

D Malkin - Adrenocortical Carcinoma: Basic Science and Clinical …, 2010 - Springer
In 1969, a remarkable cancer predisposition syndrome was reported by Li and Fraumeni.
Using a classical epidemiologic approach, they retrospectively evaluated 280 medical …

Relative frequency and morphology of cancers in carriers of germline TP53 mutations

JM Birch, RD Alston, RJQ McNally, DGR Evans… - Oncogene, 2001 - nature.com
The spectrum and frequency of cancers associated with germline TP53 mutations are
uncertain. To address this issue a cohort of individuals from 28 families with Li-Fraumeni …

A systematic review of genetic polymorphisms and breast cancer risk

AM Dunning, CS Healey, PDP Pharoah… - … Biomarkers & Prevention, 1999 - AACR
Studies investigating the relationship between common genetic variants and cancer risk are
being reported with rapidly increasing frequency. We have identified 46 published case …

Germline TP53 mutations and Li‐Fraumeni syndrome

JM Varley - Human mutation, 2003 - Wiley Online Library
There are now reports of nearly 250 independent germline TP53 (p53) mutations in over
100 publications. Such mutations are typically associated with Li‐Fraumeni or Li‐Fraumeni …

Highly penetrant hereditary cancer syndromes

R Nagy, K Sweet, C Eng - Oncogene, 2004 - nature.com
The past two decades have brought many important advances in our understanding of the
hereditary susceptibility to cancer. Approximately 5–10% of all cancers are inherited, the …

Hereditary breast cancer: new genetic developments, new therapeutic avenues

PM Campeau, WD Foulkes, MD Tischkowitz - Human genetics, 2008 - Springer
Six genes confer a high risk for develo** breast cancer (BRCA1/2, TP53, PTEN, STK11,
CDH1). Both BRCA1 and BRCA2 have DNA repair functions, and BRCA1/2 deficient tumors …

Breast cancer in the era of integrating “Omics” approaches

C Rossi, I Cicalini, MC Cufaro, A Consalvo… - Oncogenesis, 2022 - nature.com
Worldwide, breast cancer is the leading cause of cancer-related deaths in women. Breast
cancer is a heterogeneous disease characterized by different clinical outcomes in terms of …