Co-occurrence of germline BRCA1 and CDH1 pathogenic variants.

INTRODUCTION: We report a very rare case of familial breast cancer and diffuse gastric cancer, with germline pathogenic variants in both BRCA1 and CDH1 genes. To the best of our knowledge, this is the first report of such an association.Family description: The proband is a woman diagnosed with breast cancer at the age of 52 years. She requested genetic counselling in 2012, at the age of 91 years, because of a history of breast cancer in her daughter, her sister, her niece and her paternal grandmother and was therefore concerned about her relatives. Her sister and maternal aunt also had gastric cancer. She was tested for several genes associated with hereditary breast cancer. RESULTS: A large deletion of BRCA1 from exons 1 to 7 and two CDH1 pathogenic cis variants were identified. CONCLUSION: This complex situation is challenging for genetic counselling and management of at-risk individuals.

[Psychological aspects of cancer Information dedicated to patients and relatives]. / Vivre pendant et après un cancer. Information à l'usage des personnes malades et de leurs proches.

In response to the evolution of the information-seeking behaviour of patients and concerns from health professionals regarding cancer patient information, the French National Federation of Comprehensive Cancer Centres (FNCLCC) introduced, in 1998, an information and education program dedicated to patients and relatives, the SOR SAVOIR PATIENT program (SSP). The methodology of this program adheres to established quality criteria regarding the elaboration of patient information. Cancer patient information, developed in this program, is based on clinical practice guidelines produced by the FNCLCC and the twenty French cancer centres, the National League against Cancer, The National Cancer Institute, the French Hospital Federation, the National Oncology Federation of Regional and University Hospitals, the French Oncology Federation of General Hospitals, many learned societies, as well as an active participation of patients, former patients and caregivers. The information and dialogue handbook SOR SAVOIR PATIENT Vivre pendant et après un cancer reporting on the psychological aspects of cancer was worked out and published on the Web in 2005. The guide aims to provide cancer patients with support and advice about the psychological impact of the disease. It provides information on the possible personal consequences of the disease and treatments, in every domain: psychological, emotional, interpersonal, familial or professional. Patients are also advised of the emotional challenges associated with cancer, of the support they may expect at every stage of the disease, from diagnosis to treatment, and of psychological outcome after the disease is over. The document also provides healthcare professionals with a valuable, concise source of validated information on the psychological aspects of cancer, thus facilitating communication between carers and patients. Information provided in the present article has been selected from the information and dialogue handbook SOR SAVOIR PATIENT Vivre pendant et après un cancer. The document addresses the issue of the psychological support made available to the patients during and after the disease. The SOR SAVOIR PATIENT guide can be downloaded from the FNCLCC website at: http://www.fnclcc.fr