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Genetics  (Expert Forum)
 | 
Famly hard hit.
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
Welcome to the Genetics Forum! Questions in the Genetics Forum are being answered by genetic experts from AccessDNA. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.

Famly hard hit.

by nalanala, Nov 20, 2007 10:10AM
Hi,
We are a baby boom family of nine ranging in age from 56 down to 42.
Brief run down of conditions starting with the oldest:
Brother dx last yr.-severe symptomatic Parkinson's(on L-Dopa)-age 55.
Sister dx last year double invasive breast ca(double mastectomy)-age 52.
Sister dx multiple sclerosis mildly sx - age 21.(30 yrs ago).
Sister dx age 29 invasive breast ca with 8 layers lymph node involvement - chemo 10 months - still alive -single mastectomy.
Myself dx last year ovarian ca st.1c  -3 rounds chemo also dx last year thyroid ca.
4 youngest ones nothing yet.
Maternal grandmther + her sister dead age 52 breast ca.
Paternal grandfather Parkinson's age 70.
Mother colon ca age 72.
My question is  are these events sporadic or can they be linked genetically and would this be considered unusual or just bad luck to get all these conditions? We have otherwise been a healthy family - no one is overweight. Should we be tested genetically or is it a waste of time and money?
Thanks so much and I hope I'm in the right forum,
Barbara
  

by Lisa Kessler, MS, CGC, Nov 20, 2007 02:49PM
To: Barbara
Yes.  You are certainly in the correct forum.  You have a significant family history of cancer.  Your family would benefit from talking with a genetic counselor who can take a detailed family history of all cancer diagnoses, and provide risk estimates for the chances that a BRCA 1 or BRCA 2 mutation is causing the breast and ovarian cancer in your family.  A genetic counselor will also explain who in the family is most informative to test first.  In general, if possible, it is best for someone who has been diagnosed with breast and/or ovarian cancer to have BRCA1/2 testing first.   Having genetic counseling does not obligate people to have genetic testing.   You can find a genetic counselor through the National Society of Genetic counselors and through companies like mine, DNA Direct.  

As you may know, BRCA 1 and BRCA 2 are two genes associated with an increased risk of hereditary breast and ovarian cancer.  The genes are inherited in an autosomal dominant way.  They can be passed equally to men and women.  Someone with a gene mutation in BRCA 1 or BRCA 2 has a 50% chance of passing it on to each child that they have, and a 50% chance of not passing it on.  

Genetic counseling may also address the other conditions running in your family such as multiple sclerosis and Parkinson’s disease.   Multiple sclerosis (MS) is a complex condition most likely caused by the interaction of multiple genes and environmental factors.  

Recently, there have been studies that have found genetic variations that are more common in people with MS than in people without MS.  IL2RA and IL7RA and those in the HLA locus are genetic risk factors for multiple sclerosis.   However, it is unlikely that these genes alone cause MS.  There is not clinical genetic testing available for MS at this time.  However, research is testing is available through Vanderbilt University Medical Center for Human Genetics Research.  You can contact the lab directly for more information about the research at (615) 322-7195 or (1-888 ) 717-4319.

Parkinson disease is associated with many different genes and also results from environmental risk factors.  The lifetime risk to a first degree relative (mother, father, brother, sister, children) of someone with Parkinson disease is approximately 3%-7%.  Genetic counseling would be needed in order to provide more detailed risk information for your family.  I hope that this information is helpful.  Best wishes to you and your family.  

Member Comments (2)

by nalanala, Nov 20, 2007 10:28AM
To: the doctor.
...forgot to say 52yo sister(dble beast ca) was premenopausal as well as myself (ovar. ca) dx age 47.
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