The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations.

Background: It has not been clearly established if skin cancer or melanoma are manifestations of BRCA1 or BRCA2 mutation carrier status. Estimating the risk of skin cancer is an important step towards developing screening recommendations.

Methods: We report the findings of a prospective cohort study of 6,207 women from North America who carry BRCA1 or BRCA2 mutations.

An appraisal of genetic testing for prostate cancer susceptibility.

Most criteria for genetic testing for prostate cancer susceptibility require a prior diagnosis of prostate cancer, in particular cases with metastatic disease are selected. Advances in the field are expected to improve outcomes through tailored treatments for men with advanced prostate cancer with germline pathogenic variants, although these are not currently offered in the curative setting. A better understanding of the value of genetic testing for prostate cancer susceptibility in screening, for early detection and prevention is necessary.

Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing.

Nearly 3% of the population carries genetic variants that lead to conditions that include hereditary breast and ovarian cancer and Lynch syndrome. These pathogenic variants account for approximately 20% of ovarian cancer cases, and those with germline pathogenic variants have an odds ratio between 4 and 40 for developing ovarian cancer compared with noncarriers. Given the high prevalence of genetic variants, multiple organizations, including ASCO, recommend universal genetic counseling and testing for women diagnosed with epithelial ovarian cancer.

The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT.

Approximately 1% of the Ashkenazi Jewish population carries the BRCA2 6174delT (c.5946del) pathogenic variant. It is important to have accurate knowledge of the risks of breast and ovarian cancer associated with this specific variant so that women may be counseled accordingly.

Changes in Bone Mineral Density After Prophylactic Bilateral Salpingo-Oophorectomy in Carriers of a BRCA Mutation.

Importance: Preventive surgery is strongly recommended for individuals with a BRCA mutation at a young age to prevent ovarian cancer and improve overall survival. The overall effect of early surgical menopause on various health outcomes, including bone health, has not been clearly elucidated.

Objective: To evaluate the association of prophylactic bilateral salpingo-oophorectomy with bone mineral density (BMD) loss among individuals with a BRCA mutation.

Effects of bilateral salpingo-oophorectomy on menopausal symptoms and sexual functioning among women with a BRCA1 or BRCA2 mutation.

Introduction: Prophylactic bilateral salpingo-oophorectomy (BSO) is recommended at an early age to BRCA mutation carriers to prevent ovarian cancer. It is critical to evaluate the impact of BSO on non-cancer outcomes, including quality of life (QOL), menopausal symptoms and sexual functioning.

Methods: BRCA mutation carriers who elected to undergo a BSO completed three questionnaires prior to surgery and then again approximately one and three years following surgery which included: 1) medical history questionnaire, 2) Menopause-Specific Quality of Life Intervention questionnaire and 3) Sexual Activity Questionnaire.

Analogs of human genetic skin disease in domesticated animals.

Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them.

Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation.

Purpose: The purposes of this study were to estimate the reduction in risk of ovarian, fallopian tube, or peritoneal cancer in women with a BRCA1 or BRCA2 mutation after oophorectomy, by age of oophorectomy; to estimate the impact of prophylactic oophorectomy on all-cause mortality; and to estimate 5-year survival associated with clinically detected ovarian, occult, and peritoneal cancers diagnosed in the cohort.

Patients And Methods: Women with a BRCA1 or BRCA2 mutation were identified from an international registry; 5,783 women completed a baseline questionnaire and ≥ one follow-up questionnaires. Women were observed until either diagnosis of ovarian, fallopian tube, or peritoneal cancer, death, or date of most recent follow-up.

Chemotherapy-induced amenorrhea in patients with breast cancer with a BRCA1 or BRCA2 mutation.

Purpose: To determine the likelihood of long-term amenorrhea after treatment with chemotherapy in women with breast cancer who carry a BRCA1 or BRCA2 mutation.

Patients And Methods: We conducted a multicenter survey of 1,954 young women with a BRCA1 or BRCA2 mutation who were treated for breast cancer. We included premenopausal women who were diagnosed with invasive breast cancer between 26 and 47 years of age.

Frequency of premature menopause in women who carry a BRCA1 or BRCA2 mutation.

Objective: To evaluate the impact of carrying a BRCA1 or BRCA2 mutation on the probability of experiencing premature natural menopause.

Design: Observational study.

Setting: Patients in an academic research environment.

BRCA carriers, prophylactic salpingo-oophorectomy and menopause: clinical management considerations and recommendations.

Women who inherit a mutation in either the BRCA1 or BRCA2 gene have greatly elevated lifetime risks of ovarian cancer, fallopian tube cancer and breast cancer. Preventive surgical removal of the ovaries and fallopian tubes (salpingo-oophorectomy) is recommended to these women, often prior to natural menopause, to prevent cancer. The ensuing hormone deprivation may impact on health and quality of life.

The impact of prophylactic salpingo-oophorectomy on quality of life and psychological distress in women with a BRCA mutation.

Objectives: The objective of this study was to measure the impact of prophylactic salpingo-oophorectomy on health-related quality of life and psychological distress in women.

Methods: Women who underwent prophylactic salpingo-oophorectomy between August 20, 2003 and June 26, 2008 because of a BRCA1 or BRCA2 mutation were invited to participate. Participants completed three questionnaires (SF-12(®) Health Survey, Brief Symptom Inventory and the Impact of Events Scale) before prophylactic surgery and again 1 year after surgery.

Quality of life and health status after prophylactic salpingo-oophorectomy in women who carry a BRCA mutation: A review.

Prophylactic salpingo-oophorectomy is recommended to women who carry a BRCA1 or BRCA2 mutation at age 35 or after childbearing is complete. This procedure is the mainstay of ovarian and fallopian tube cancer prevention in these women. Therefore an understanding of the short and long-term impact of the surgery is essential.

Risk factors for non-invasive lesions of the fallopian tube in BRCA mutation carriers.

Objective: To identify risk factors for the presence of a non-invasive lesion of the fallopian tube in women with a BRCA1 or BRCA2 mutation.

Methods: 173 BRCA mutation carriers underwent a prophylactic salpingo-oophorectomy at the University Health Network, Toronto between 2000 and 2008 and were evaluated for the presence of a non-invasive lesion of the fallopian tube. Patients were classified as having p53 overexpression ("p53-signature"), a tubal intra-epithelial carcinoma (TIC) or normal tubal epithelium.

Prevalence of BRCA1 and BRCA2 germ line mutations among women with carcinoma of the fallopian tube.

Objectives: The purpose of this study is to determine the prevalence of BRCA1 and BRCA2 mutations among a large series of women with carcinoma of the fallopian tube.

Methods: Two series of women diagnosed with carcinoma of the fallopian tube were studied. Women identified from the Ontario Cancer Registry who were diagnosed with fallopian tube cancer between 1990 and 1998 and between 2002 and 2004.

Risk factors for carcinoma of the fallopian tube in women with and without a germline BRCA mutation.

Objective: The purpose of this study was to identify risk factors for fallopian tube cancer in women with and without a BRCA mutation.

Methods: Subjects with fallopian tube cancer were identified from two sources: 1) a large international registry of women who carry a BRCA1 or BRCA2 mutation (n=56), and; 2) a population-based study of ovarian and fallopian tube cancer conducted in Ontario, Canada (n=66). BRCA mutation status was established for all subjects.

The effectiveness of family history questionnaires in cancer genetic counseling.

The number of individuals receiving genetic counseling for hereditary breast and ovarian cancer syndrome has steadily risen. To triage patients for genetic counseling and to help reduce the amount of time needed by a genetic counselor in direct patient contact, many clinics have implemented the use of family history questionnaires. Although such questionnaires are widely used, scant literature exists evaluating their effectiveness.

Variation in rates of uptake of preventive options by Canadian women carrying the BRCA1 or BRCA2 genetic mutation.

Background: Women with a BRCA1 or BRCA2 genetic mutation have several options for cancer prevention, including prophylactic surgery, chemoprevention and screening. In this study we report on preventive practices used by women with and without breast cancer and examine differences in their selection of preventive practices according to geographic area in Canada.

Methods: Canadian women with a BRCA1 or BRCA2 mutation were followed after genetic testing and questioned about their preventive practices.

The risk of endometrial cancer in women with BRCA1 and BRCA2 mutations. A prospective study.

Objective: To evaluate the risk of endometrial cancer in women who carry a deleterious mutation in the BRCA1 or BRCA2 genes.

Patients And Methods: Women known to carry a BRCA1 or BRCA2 mutation, aged 45 to 70, were identified from an international registry and were followed prospectively. A total of 857 women completed a baseline questionnaire and one or more follow-up questionnaires.

Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.

Context: Women with BRCA1 or BRCA2 mutation are often advised to undergo preventive oophorectomy. The effectiveness of this intervention has not been prospectively evaluated in a large cohort.

Objectives: To estimate the incidence of ovarian, fallopian tube, and primary peritoneal cancer in women who carry a deleterious mutation in BRCA1 or BRCA2.

Clinical and pathologic findings of prophylactic salpingo-oophorectomies in 159 BRCA1 and BRCA2 carriers.

Objective: To estimate the likelihood of occult cancer diagnosis at prophylactic oophorectomy in BRCA1 and BRCA2 carriers in different age groups and to determine the histopathology of these lesions.

Methods: We describe a series of 159 female BRCA1 or BRCA2 carriers who underwent prophylactic oophorectomy at the University Health Network, Toronto from January 1, 1992 to June 30, 2004.

Results: Seven (4.