Familial Cancer

Hematologic toxicities of chemotherapy in breast and ovarian cancer patients carrying BRCA1/BRCA2 germline pathogenic variants. A single center experience and review of the literature

• Open Access
• Original Article

Ketty Hu-Heimgartner, Noémie Lang, Aurélie Ayme, Chang Ming, Jean‑Damien Combes, Victor N. Chappuis, Carla Vazquez, Alex Friedlaender, Aurélie Vuilleumier, Alexandre Bodmer, Valeria Viassolo, José L Sandoval, Pierre O. Chappuis, S. Intidhar Labidi-Galy

Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition

• Open Access
• Brief Report

Timo A. Kumpula, Susanna Koivuluoma, Leila Soikkonen, Sandra Vorimo, Jukka Moilanen, Robert Winqvist, Tuomo Mantere, Outi Kuismin, Katri Pylkäs

A retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesions

• Original Article

Meera Kattapuram, Christina Shabet, Sarah Austin, Michelle F. Jacobs, Erika Koeppe, Emily H. Smith, Lori Lowe, Tobias Else, Kelly B. Cha

A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome

• Brief Report

Ahmed Bouras, Pierre Naibo, Clémentine Legrand, François Le Marc’hadour, Eric Ruano, Chloé Grand-Masson, Cedrick Lefol, Qing Wang

Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing

• Short Communication

Lindsey Byrne, Cana Ingalls, Aliya Ansari, Cassie Porteus, Talia R. Donenberg, Daniel A. Sussman, Colleen M. Cebulla, Mohamed H. Abdel-Rahman

Heritable methylation marks associated with prostate cancer risk

• Open Access
• Short Communication

James G. Dowty, Chenglong Yu, Mahnaz Hosseinpour, Jihoon Eric Joo, Ee Ming Wong, Tu Nguyen-Dumont, Joseph Rosenbluh, Graham G. Giles, Roger L. Milne, Robert J. MacInnis, Pierre-Antoine Dugué, Melissa C. Southey

Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome

• Correspondence

Ixtaccihuatl H. Obregón, Kelvin C. de Andrade, Renee C. Bremer, Payal P. Khincha, Sharon A. Savage

Characteristics of familial pancreatic cancer families with additional colorectal carcinoma

• Open Access
• Research

Bettina Lehman, Elvira Matthäi, Norman Gercke, Ulrike W. Denzer, Jens Figiel, Timo Hess, Emily P. Slater, Detlef K. Bartsch

Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants

Amye M. Harrigan, Amy M. Trottier

Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161

• Open Access

Miriam J Smith, Emma R Woodward, D Gareth Evans

Ninth International Symposium on Hereditary Breast and Ovarian Cancer

• Abstracts