The intent of the proposed study is to describe the prevalence of the most common recurring mutations in BRCA1 and BRCA2, blmAsh , and the A636P MSH2 mutation among Ashkenazi Jewish individuals with a variety of cancer diagnoses. If a substantial proportion of these samples contain such mutations, future patients presenting with these diseases may wish to undergo genetic counseling and, if appropriate, formal genetic testing. The benefit from such a process would pertain mainly to the families of these individuals.

NCT00588263

Conditions

1. Extrahepatic Bile Duct Cancer
2. Gallbladder Cancer
3. Gastric Cancer
4. Lung Cancer
5. Melanoma
6. Non-Hodgkin's Lymphoma
7. Uterine Cancer
8. CORPUS UTERI,ENDOMETRIUM
9. LUNG
10. OVARY

MeSH:Gallbladder Neoplasms Bile Duct Neoplasms Cholangiocarcinoma Uterine Neoplasms

HPO:Cholangiocarcinoma Neoplasm of the gallbladder Uterine neoplasm

Anonymous Testing of Pathology Specimens for BRCA Mutations in Ashkenazi Jewish Individuals Who Have Cancer The intent of the proposed study is to describe the prevalence of the most common recurring mutations in BRCA1 and BRCA2, blmAsh , and the A636P MSH2 mutation among Ashkenazi Jewish individuals with a variety of cancer diagnoses. --- A636P ---

The aim of this study is to determine the frequency of the three most common BRCA1 and BRCA2 genetic mutations that are commonly found in Ashkenazi Jewish patients with pancreatic cancer. Testing for BRCA1 and BRCA2 mutations in relatives of hereditary pancreatic cancer patients may have a significant impact; allowing for early screening, treatment, and resection of pre-malignant tissue or malignant lesions.

NCT01102569

Conditions

1. Pancreatic Cancer

MeSH:Pancreatic Neoplasms

HPO:Neoplasm of the pancreas

Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.. Inclusion Criteria: - Patients diagnosed with pancreatic cancer. --- A636P ---

Identification of BRCA mutations in ovarian cancer patients may help guide cancer therapies, prognosis, post-operative screening, and other preventative treatments beyond the initial diagnosis. Likewise, genetic testing of ovarian cancer patients for these germline mutations provides invaluable information for families regarding cancer risk, genetic testing, and subsequently indication for risk-reducing surgery. Cascade testing provides a unique opportunity to identify carriers of a deleterious BRCA mutation which can allow for surgical and chemoprevention of prevention of ovarian cancer. There is currently no literature on the rates of referral for the family members.

NCT04009148

Conditions

1. BRCA-Mutated Ovarian Carcinoma
2. BRIP1 Gene Mutation
3. MSH2 A636P
4. MLH1 Gene Mutation
5. MSH6 Gene Mutation
6. PMS2 Gene Mutation
7. EPCAM
8. RAD51C Gene Mutation

Interventions

1. Other: CASCADE genetic screening

MeSH:Hereditary Brea Hereditary Breast and Ovarian Cancer Syndrome

BRCA-Mutated Ovarian Carcinoma BRIP1 Gene Mutation MSH2 A636P MLH1 Gene Mutation MSH6 Gene Mutation PMS2 Gene Mutation EPCAM RAD51C Gene Mutation Hereditary Brea Hereditary Breast and Ovarian Cancer Syndrome The objective of this study is to perform a pilot study, offering referral to a genetic counseling and genetic testing for family members of a probands known to have a mutation in BRCA1 or BRCA2. --- A636P ---