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

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

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

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

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

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

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

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

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

Miriam J Smith, Emma R Woodward, D Gareth Evans

Ninth International Symposium on Hereditary Breast and Ovarian Cancer