FA Family Newsletter - Fanconi Anemia Research Fund

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Understanding the Genetics of FA:Carriers, Complementation Groups and Cancer RiskScience News From the Family MeetingCertified genetics counselor Heather Zierhut, MS,University of Minnesota Medical Center, gave attendeesat Camp Sunshine a primer on the genetics of Fanconianemia. Approximately one in 181 individuals is acarrier of FA. In the Ashkenazi Jewish population, carrierfrequency is one in 90.To know if relatives of an FA patient are carriers, onemust know the FA patient’s specific disease mutations.If one mutation has been passed on to a relative, thatindividual is a carrier of FA. When two carriers of diseasemutations in the same gene have children, there is a onein four chance that a child will have FA, a two in fourchance that children will be carriers, and a one in fourchance that the child will not have FA nor be a carrier.Fifteen FA genes have been discovered, andpatients with defects in the same gene are in the same“complementation group.” Most complementationgroups are not associated with an elevated risk of cancer incarriers. However, studies show an elevated risk of cancerin carriers from five different complementation groups.The FANCD1/BRCA2 gene mutations confer a 45%risk of breast cancer to carriers by age 70 and up to an80% risk of breast cancer during one’s lifetime. Ovariancancer is also a major concern for women carriers. Malecarriers in this complementation group are at increasedrisk of breast and prostate cancer. Two complementationgroups, FANCN and FANCJ, typically double a carrier’sbreast cancer risk. One study showed that FANCCalso doubles the risk of breast cancer for FA carriers.A newly discovered FA gene, FANCO/RAD51C, isalso associated with ovarian cancer in the generalpopulation. The specific gene mutations that a personcarries can influence the specific cancer risks. Carriersare encouraged to discuss these risks with a geneticcounselor and/or their health care providers.Dietitian Advises to “Eat the Rainbow!”Carol Ceresa, RegisteredDietitian, Veteran’sAdministration MedicalCenter, San Francisco,spoke to Camp Sunshineattendees about theimportance of goodnutrition in maintainingoptimal health and helpingto prevent cancer. Allthree of her sisters hadFanconi anemia, which inspired her early interest in theprotective effects of nutrient-rich foods.Ceresa highly recommends the book What Coloris your Diet? by David Heber, MD, PhD, Directorof Human Nutrition, UCLA. Choosing fruits andvegetables covering a wide range of bright colorspromotes good health. She recommended eating twocups of fruit and two cups of vegetables daily and leavingthe skins on whenever possible.Ceresa believes that certain foods may protect againstcancer and cited a recent study by Tong Chen, MD,PhD, Ohio State University, which suggests that freezedriedstrawberries might play a role in preventingesophageal cancer. Other foods thought to have anticancerproperties include turmeric (which contains theanti-inflammatory curcumin), mushrooms (especiallyshiitake), walnuts and avocados. Ceresa recommendedthe book Healing Spices by Bharat B. Aggarwal, PhD,University of Texas, M.D. Anderson Cancer Center,which details healing properties of foods and spices.Butter should be avoided in favor of monounsaturatedfats such as olive oil, avocado oil, peanut oil and walnutoil. One should avoid foods rich in fats, such as pizza,cheese, hotdogs, sausage, bacon, ribs and fried food.Avoid foods high in sugar (sodas, fruit drinks, sweet teas,candy, desserts) and choose whole grains such as brownrice over white rice. Eat fish twice a week (especially oilrichfish such as salmon, sardines and mackerel). And,Ceresa concluded, “don’t forget to ‘eat the rainbow!’”4 Family Newsletter #50
Plans Under Way to Study FA Parental IssuesRelated to PGDThis year marks the 10-year anniversary of the successfuluse of pre-implantation genetic diagnosis (PGD) withhuman leukocyte antigens typing for Fanconi anemia.Heather Zierhut, MS, a certified genetics counselor, notesthat much has changed since this technology began. Shewrote a grant to study the ethical, legal, and psychosocialissues that have surrounded this subject. Through anelectronic survey, she and her collaborator will ask allparents of children with FA, not just those who haveundergone PGD, about their decision-making, opinionsand experiences with the use of this technology. Researcherswill invite FA groups in Canada, the United Kingdom andAustralia to participate. The survey will be emailed to FAparents shortly. The study results will be presented at theBrocher Foundation Symposium in Geneva, Switzerland,in November.Managing Head and Neck Cancer in FA PatientsDavid Kutler, MD, WeillCornell Medical College,gave a comprehensiveoverview of head and necksquamous cell carcinoma(HNSCC) in the FApopulation. While thiscancer is relatively rare in thegeneral population, 21% ofFA patients will experienceHNSCC by age 40 at amedian age of 31. In the non-FA population, smokingand/or drinking causes HNSCC. FA patients should notdrink or smoke and must avoid second-hand smoke.Sixty-five percent of FA HNSCCs occur in the oralcavity. They appear as ulcers or masses in the mouththat do not heal or go away. The human papillomavirus(HPV) has been implicated in certain HNSCCS in thegeneral population and in 83% of FA tumors, accordingThree take-aways from the presentation:• Patients should not drink or smoke and mustavoid second-hand smoke.• Dr. Kutler strongly recommends that FApatients, male and female, receive the HPVvaccine.• Surveillance should begin around the age of9 and should be repeated every six monthsand more frequently if cancer is diagnosed.to one study. Dr. Kutler strongly recommends that FApatients, male and female, receive the HPV vaccine. Thisvaccine protects against HPV subtypes 16, 18, 7 and 11;HPV16 causes 90-95% of HPV-related cancers, so thisvaccine might protect against many FA malignancies.Treatment of HNSCCs can cause tremendousmorbidity and negatively affect quality of life. Smalltumors can be surgically removed; surgical removal oflarge tumors can be devastating. Doctors sometimes userobotic surgery to remove head and neck cancer, whichenables surgical removal through the mouth, therebycausing less morbidity.Dr. Kutler reported on 12 FA patients who underwentradiation therapy at his center. The average dose ofradiation was 5,278 rads. Eight of 12 patients died, fourduring the course of radiation. Patients experienced highgrademucositis, inability to swallow, low blood counts,esophageal stenosis and wound breakdown. Radiationtherapy should be done only for more advanced tumorsand by surgeons experienced in FA. Chemotherapy suchas cisplatin should be avoided but Erbitux is a possibleoption for FA patients.Early detection is crucial. Head and neck surgeons(otolaryngologists) for adults should conduct surveillanceexaminations, because pediatric ENTs do not commonlysee or diagnosis head and neck cancer.The youngest FA patient diagnosed with HNSCCwas 9. Surveillance should begin around that age and berepeated every six months and more frequently if canceris diagnosed.Science News From the Family MeetingFamily Newsletter #50 5
Page 3: Early Gynecological Care is Essenti
Page 7 and 8: Psychological/Social Issues Affect
Page 9 and 10: Minnesota Reports on Transplant Out
Page 11 and 12: Living with Fanconi AnemiaBy Mary G
Page 13 and 14: A FANTABULOUS Experience for FA Fam
Page 15 and 16: The Sum of All Fears: A Single Mom
Page 17 and 18: Kids from FA Families Pitch in to R
Page 19 and 20: Everything Old is New AgainBy Jeann
Page 21 and 22: Door to Door SuccessJack Timperley,
Page 23 and 24: Researchers and Clinicians to Conve

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