Identifying and prioritising unanswered research questions for people with hyperacusis: James Lind Alliance Hyperacusis Priority Setting Partnership.

Objective: To determine research priorities in hyperacusis that key stakeholders agree are the most important.

Design/setting: A priority setting partnership using two international surveys, and a UK prioritisation workshop, adhering to the six-staged methodology outlined by the James Lind Alliance.

Participants: People with lived experience of hyperacusis, parents/carers, family and friends, educational professionals and healthcare professionals who support and/or treat adults and children who experience hyperacusis, including but not limited to surgeons, audiologists, psychologists and hearing therapists.

Consideration of hereditary nonpolyposis colorectal cancer in BRCA mutation-negative familial ovarian cancers.

Background: Inherited mutations account for approximately 10% of all epithelial ovarian cancers. Breast cancer (BRCA1 and BRACA2) gene mutations are responsible for up to 85% of inherited breast and/or ovarian cancer. Another condition that has been associated with ovarian cancer is hereditary nonpolyposis colorectal cancer syndrome (HNPCC), which carries a lifetime risk of up to 13% for ovarian cancer.

Uterine carcinosarcoma associated with hereditary nonpolyposis colorectal cancer.

Background: Hereditary nonpolyposis colorectal cancer (HNPCC) was originally described as a genetic disorder predominantly involving colorectal cancer. Numerous neoplasms are known to be associated with this condition. Sarcomas have also been reported within families with HNPCC.

The role of hereditary nonpolyposis colorectal cancer in the management of familial ovarian cancer.

Purpose: Familial ovarian cancer is most often associated with hereditary breast and ovarian cancer, implicating mutations in the BRCA1 and BRCA2 genes. Hereditary nonpolyposis colorectal cancer, another common syndrome, is also associated with ovarian cancer and is caused by DNA mismatch repair genes. We sought to identify the role of hereditary nonpolyposis colorectal cancer in women with family histories of ovarian cancer.

Patients with a family history of cancer: identification and management.

A family history of certain malignancies, especially breast, ovarian, colorectal, and prostate cancers, can place persons at increased risk of developing these cancers. By constructing a pedigree that includes 3 generations, family physicians can identify patients at increased risk because of family cancer history. Persons at increased cancer risk because of family history warrant a surveillance strategy for early detection.

Unsuspected Klinefelter syndrome diagnosed during oncologic evaluation: a case series.

Klinefelter syndrome is an underdiagnosed chromosomal disorder that has significant implications for health and for medical management. This report presents 5 adult male patients diagnosed with previously unsuspected Klinefelter syndrome as a result of cytogenetic testing for suspected hematologic malignancies. This case series highlights the importance of maintaining a comprehensive and holistic approach to medical care.

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics.

A cancer genetics education campaign: delivering parallel messages to clinicians and the public.

Background: Up to 10% of all cancers are thought to have a familial basis through complex interactions between genes and environment.

Methods: A community-wide education campaign was conducted that included several elements: a five part television news series; an educational newsletter; web site pages and links to educational materials; a Continuing Medical Education (CME) program for professionals; and an evaluation survey.

Results: Survey estimates revealed that 39000 households recalled seeing the series; 14800 households changed their views about the risks of hereditary cancers; and about 9900 households were made more aware/informed about cancer and hereditary risk.