Maria Isabel Achatz

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families

Maria Isabel Achatz, Magali Olivier, Florence Le Calvez‐Kelm et al. · Cancer Letters · 2006 · 210 citations

Tp53 Mutation, Mendelian Disorder, Genetic Disorder +7

Detailed haplotype analysis at the<i>TP53</i>locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect

Sonia Garritano, Federica Gemignani, Edenir Inêz Palmero et al. · Human Mutation · 2009 · 145 citations

Genetics, Haplotype Analysis, Genetic Epidemiology +17

Germline Testing in Patients With Breast Cancer: ASCO–Society of Surgical Oncology Guideline

Isabelle Bedrosian, Mark R. Somerfield, Maria Isabel Achatz et al. · Journal of Clinical Oncology · 2024 · 145 citations

Gastric cancer in individuals with Li-Fraumeni syndrome

Serena Masciari, Akriti Dewanwala, Elena M. Stoffel et al. · Genetics in Medicine · 2011 · 144 citations · Full text

Gastrointestinal Oncology, Medicine, Gastroenterology +4

Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil

Edenir Inêz Palmero, Lavínia Schüler‐Faccini, Maira Caleffi et al. · Cancer Letters · 2008 · 131 citations

Breast Oncology, Cancer Screening, Medicine +8