Neoplasms

Skin and Connective Tissue Diseases

All Conditions

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Gland and Hormone Related Diseases

Rare Diseases

Breast Neoplasms

Ovarian Neoplasms

Carcinoma, Ovarian Epithelial

Carcinoma

Endocrine Gland Neoplasms

Ovarian Diseases

Adnexal Diseases

Genital Diseases, Female

Genital Diseases

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Genital Neoplasms, Female

Urogenital Neoplasms

Endocrine System Diseases

Gonadal Disorders

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Ovarian Cancer

Ovarian Epithelial Cancer

You will be asked to make a one-time visit to MSKCC. At that research visit, you will be asked to complete a short questionnaire about your knowledge of various reproductive technologies relevant to individuals at hereditary risk. Then you will watch a short presentation about these reproductive technologies and complete a second brief questionnaire to assess your understanding of the presentation. Afterwards, you will meet with an interviewer one-on-one for about one hour, during which time you may share your thoughts and feelings about the use of these reproductive technologies.

questionnaire, interview

Karen Hurley, PhD

We are inviting you to participate in a study of how people who have had genetic counseling for breast/ovarian cancer risk feel about certain reproductive technologies, preimplantation genetic diagnosis (PGD) and prenatal genetic diagnosis (PND), that may reduce the chances of passing increased risk onto one's children. We would also like feedback from patients who have been to our clinic in the past on the best ways to talk about PGD and PND during genetic counseling sessions. We are seeking both the opinions of people who are interested in these technologies and those who are not. It does not matter whether you have heard of PGD or PND before - you can still participate. Your past experience with genetic counseling is valuable to us in deciding how to communicate this information during sessions.

Awareness and Attitudes Regarding Prenatal and Preimplantation Genetic Diagnosis for Inherited Breast/Ovarian Cancer Risk

The New School for Social Research

Hadassah Medical Organization

New York University

New York Presbyterian Hospital

Memorial Sloan Kettering Cancer Center

Symptoms and General Pathology

Diseases and Abnormalities at or Before Birth

Digestive System Diseases

Nutritional and Metabolic Diseases

Syndrome

Hereditary Breast and Ovarian Cancer Syndrome

Colorectal Neoplasms

Colorectal Neoplasms, Hereditary Nonpolyposis

Intestinal Neoplasms

Gastrointestinal Neoplasms

Digestive System Neoplasms

Neoplastic Syndromes, Hereditary

Gastrointestinal Diseases

Colonic Diseases

Intestinal Diseases

Genetic Diseases, Inborn

DNA Repair-Deficiency Disorders

Metabolic Diseases

Breast Diseases

Skin Diseases

Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives

CASCADE genetic screening

Maria C Katapodi, PhD

Christian Monnerat, MD

Ursina Zuerrer-Haerdi, MD

Karl Heinimann, PhD

Nicole Burki, MD

Viola Heinzelmann-Schwarz, MD

Karl Heinimann, PhD, MD

Christian Kurzeder, MD, PhD

Olivia Pagani, MD

Rossella Graffeo, MD

Rossella Graffeo-Galbiati, MD

Monica Taborelli, PhD

Manuela Rabaglio, MD

Amina Scherz, MD

Souria Aissaoui, PhD

Pierre Chappuis, MD, PhD

Pierre O Chappuis, MD, PhD

Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland and affect more than 12,000 individuals annually. Several hundred of these patients are likely to carry known genetic mutations associated with HBOC or LS. Genetic testing for hereditary susceptibility to cancer can prevent many cancer deaths through early identification and engagement in high-risk management care that involves intensive surveillance, chemoprevention and/or prophylactic surgery. However, current rates of genetic testing indicate that many Swiss mutation carriers and their family members do not use cancer genetic services (counseling and/or testing), either due to lack of coordination of care or due to lack of communication about the mutation among family members.

Cascade screening identifies and tests family members of a known mutation carrier. It determines whether asymptomatic family members are carriers of the identified mutation and proposes management options to reduce harmful outcomes. Robust evidence of basic science and descriptive population-based studies in Switzerland support the necessity of cascade screening for HBOC and LS. However, translation of this knowledge into public health interventions is lacking.

Specific Aims of the CASCADE study are:

1. Survey Index Patients diagnosed with HBOC or LS from clinic-based genetic testing records and determine their cancer status and surveillance practices; needs for coordination of medical care; psychosocial needs; patient-provider and patient-family communication needs; quality of life; willingness to serve as advocates for cancer genetic services for blood relatives.
2. Survey first- and second-degree relatives, and first cousins identified from pedigrees and/or family history records of HBOC and LS Index Patients and determine their cancer and mutation status; cancer surveillance practices; needs for coordination of medical care; barriers and facilitators to using cancer genetic services; psychosocial needs; patient-provider and patient-family communication needs; quality of life; willingness to participate in a study designed to increase use of cancer genetic services.
3. Explore the influence of patient-provider communication about genetic cancer risk on patient-family communication and the acceptability of a family-based communication, coping, and decision support intervention with focus group(s) of mutation carriers and blood relatives.

Please see study protocol provided in the references

Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland

Upon request, including purpose and expected timeline, anonymized patient data will be shared

Response rate for Index Patients with HBOC and LS and blood relatives

Number of mammograms, CBEs and MRIs of Index Patients and Blood Relatives

University of Basel

Professor of Nursing Science

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Awareness and Attitudes Regarding Prenatal and Preimplantation Genetic Diagnosis for Inherited Breast/Ovarian Cancer Risk	NCT00735150	Breast Cancer Ovarian Cancer	questionnaire, ...	18 Years - 39 Years	Memorial Sloan Kettering Cancer Center
Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland	NCT03124212	Hereditary Brea... Lynch Syndrome	CASCADE genetic...	18 Years -	University of Basel
Awareness and Attitudes Regarding Prenatal and Preimplantation Genetic Diagnosis for Inherited Breast/Ovarian Cancer Risk	NCT00735150	Breast Cancer Ovarian Cancer	questionnaire, ...	18 Years - 39 Years	Memorial Sloan Kettering Cancer Center

Spots Global Cancer Trial Database for mutation carrier