BRCA1 hereditary breast and ovarian cancer syndrome

Hereditary breast and ovarian   (BRCA1 HBOC) is an  condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for .

BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined.This condition is caused by changes in the BRCA1  and is inherited in an  manner.Management may include high risk cancer , chemoprevention and/or  surgeries

Symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed 80%-99% of people have these symptoms

• Abnormal fallopian tube morphology

• Ovarian neoplasam

• Ovarian tumor

• Primary peritoneal carcinoma

• 30%-79% of people have these symptoms

• Breast carcinoma

• Breast cancer

• 5%-29% of people have these symptoms

• Neoplasm of the pancreas

• Cancer of the pancreas

Diagnosis

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Prevention

People with BRCA1 and BRCA2 mutations are recommended to have a transvaginal ultrasound 1-2 times per year. Screening with CA-125 is also recommended. Prophylactic salpingo-oophorectomy (removal of the ovaries and Fallopian tubes to prevent cancer) is recommended at age 35-40 for people with BRCA1 mutations and at age 40-45 for people with BRCA2 mutations.

Treatment

'''olaparib''' (Lynparza) received expanded approval for the maintenance treatment of adult patients with deleterious or suspected deleterious germline or somatic BRCA- (gBRCAm or sBRCAm) advanced epithelial ovarian, fallopian tube or primary peritoneal  who are in complete or partial response to first-line platinum based Rucaparib approved as monotherapy for the treatment of patients with deleterious BRCA mutation (germline and/or somatic) associated advanced ovarian cancer who have been treated with two or more chemotherapies.

References

BRCA1 and BRCA2: Cancer Risk and Genetic Testing. National Cancer Institute. January 2014; http://www.cancer.gov/cancertopics/genetics/brca-fact-sheet.

NIH genetic and rare disease info

• NIH info on BRCA1 hereditary breast and ovarian cancer syndrome

BRCA1 hereditary breast and ovarian cancer syndrome is a rare disease.