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To Make An Appointment:
617-724-1971
Director: Paula D. Ryan, MD, PhD
Services
 Our
program accepts patients with personal and/or family histories
of breast and/or ovarian cancer. It is estimated that only
approximately 5% of people with breast cancer and ~10% with
ovarian cancer carry a hereditary predisposition to the disease.
Genetic counseling is available by appointment in order to
learn more about hereditary causes of breast and ovarian cancers
as well as genetic testing options. In addition, patients
have the option of participating in research studies.
 Individuals with following histories should consider cancer
genetic counseling:
- Personal history of ovarian cancer at any age
- Personal history of early onset (below age 45) breast
cancer
- Personal history of breast cancer and at least one close
family member with breast or ovarian cancer
- Personal history of two (or more) breast cancers
- Personal history of both breast and ovarian cancer
- Family history of two or more close family members with
breast or ovarian cancer
- Family history of early-onset (below age 45) breast cancer
- Family history of ovarian cancer at any age
- Download
program brochure (pdf)
Breast
& Ovarian Cancer Genetics Research
Our program oversees clinical and laboratory research regarding
the hereditary causes of breast and ovarian cancer. We are members
of joint studies with other institutions as well as pursuing
specific research at Massachusetts General Hospital/Partners
Cancer Care. Studies include those focused on discovering new
genes and the effects of known hereditary cancer genes. Patients
have the option to participate in the following studies.
Frequency of 1100delC CHK2 mutation in hereditary
families.
The purpose of this study is to determine the frequency of
the 1100delC CHEK2 mutation in individuals with a personal
and family history of specific cancers. Participation includes
genetic counseling for 1100delC CHEK2 genetic testing, informed
consent and blood draw. Participants receive 1100delC CHEK2
test results, typically via the genetic counselor.
Contact: Center for Cancer Risk Assessment 617-724-1971
REACH (Risk Evaluation And Cancer History)
The purpose of this study is to collect blood samples, medical
records from cancer diagnoses and family history information
in order to build a collection of information for future research
questions. Participants in this study do not receive individual
genetic research results but will be informed of any useful
information learned from the overall research. Participation
requires one (10 minute) conversation in person or over the
phone with the genetic counselor for consenting and taking
family history, filling out a consent form at home or person
and one blood draw (3 tubes) at the hospital or any other facility.
Contact: Center for Cancer Risk Assessment 617-724-1971
Ovarian Cancer Prevention and Early Detection Study.
This is a GOG/CGN study to compare risk-reducing salpingo-oopherectomy
vs. CA-125 screening of women at high genetic risk for ovarian
cancer. Participants must undergo genetic counseling to ensure
eligibility.
Contact: Center for Cancer Risk Assessment 617-724-1971
Genetic Basis of Multi-Cancer Families
The purpose of this study is to collect blood samples, medical
records from cancer diagnoses and family history information
in order to build a collection of information for future research
questions regarding Li-Fraumeni Syndrome (LFS) families. Participants
in this study do not receive individual genetic research results
but will be informed of any useful information learned from
the overall research. Participation requires one (10 minute)
conversation in person or over the phone with the genetic
counselor for consenting and taking family history, filling
out a consent form at home or person and one blood draw (3
tubes) at the hospital or any other facility.
Contact: Center for Cancer Risk Assessment 617-724-1971
Genetics Specialists
Director
Paula D. Ryan, MD, PhD
Psychiatric Consultants
William F. Pirl, MD
Genetic Counselors
Lauren Carpiniello, MS
Devanshi Patel, MS
Kristen Mahoney Shannon, MS, CGC
Gayun Chan Smutko, MS
Breast
& Ovarian Cancer Genetics Information
Download detailed information about hereditary causes of breast
and ovarian cancers:
Additional sources of information:
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