A 45 years old male with bilateral breast cancer with his mother developed breast cancer when aged 34 years and his sister developed ovarian cancer at age 50 years. The most likely genetic mutation for this patient is/are

Related MCQs

• A 64-year-old woman has the following family history: One sister, who was a smoker, had lung cancer at the age of 63 years; another sister had breast cancer at the age of 70 years. Her father had prostate cancer at 82 years of age, and her mother had breast cancer at age 71 years. She has three other sisters, now aged 58, 60, and 65 years who have no history of cancer. She has two daughters and two sons between the ages of 25 and 39 years, who have no history of cancer. Her ancestry is European in general, and she is not of known Ashkenazi Jewish descent. She is concerned that “cancer runs in the family” and would like to have one of those “gene tests” she has read about. What is the best advice to give her and her family?
• A 58-year-old postmenopausal woman has been taking hormone replacement therapy with combined estrogen and progestin for the past 4 years because she was told it would decrease her risk for heart disease. Her father died at age 65 years of heart disease, and she is concerned that she is also at risk. Recently, her sister has been diagnosed with breast cancer. Her mother died of breast cancer. Three years ago, the patient had a breast biopsy that showed atypical hyperplasia. She has not had a hysterectomy. The patient is considering chemoprevention for breast cancer, but is nonetheless concerned about heart disease. Her calculated risk of breast cancer is 10.4% over the next 5 years. Which of the following options is reasonable to consider for this patient?
• A 50-year-old menstruating woman has a 1 .5-cm moderately differentiated breast cancer. The lesion is completely excised, and the margins of the excision are negative. Axillary node sampling shows that she has three positive nodes. The tumor is negative for estrogen and progesterone receptors and is highly positive for HER2. She is otherwise healthy. Her mother had breast cancer at 62 years and was treated by mastectomy; she is alive and healthy at the age of 80 years. The patients sister had breast cancer at 54 years and was treated by breast conservation therapy; 4 years later she died of a recurrence of breast cancer. The patient has seen two different surgeons with opposing viewpoints regarding the best treatment, and she has been reading extensively on the Internet and has become confused about her options. Which of the following represents the best treatment for this patient?
• A 40-year-old woman has a routine gynecologic examination. At the age of 32 years, she gave birth to twins after receiving fertility drugs. She has just seen a television program on ovarian cancer, and is concerned because previous use of fertility drugs and a family history of ovarian cancer were mentioned as possible risk factors. Her mother developed endometrial cancer at 56 years, and a paternal uncle was diagnosed with a type of lymphoma at 60 years. She has one older sister with hypertension and one younger brother who is healthy. Results of her pelvic examination are unremarkable, but she asks what additional tests she should have to look for ovarian cancer in the early stages that cannot be detected by physical examination. What is the most appropriate management for this patient?
• A 42-year-old woman is evaluated because she has noticed a thickening in her left breast over the past few weeks. She noticed it a few months ago, but because it seems to come and go, she put off seeking medical attention. She is premenopausal. She had menarche at age 13 years. When she was 35 years, she had one child (whom she breast-fed) after a normal first full-term pregnancy. She took oral contraceptives for 10 years before her pregnancy. She has no known radiation exposure and no family history of breast cancer. On physical examination, there appears to be some asymmetry in breast tissue density in the upper outer quadrant of the left breast compared with the right one, but no discrete mass. There are no palpable lymph nodes. Results of a mammogram are negative. What would be the most appropriate next step in this patients management?
• A 45 years old female with right sided breast cancer with no family history suggesting familial cancer. The most likely genetic mutation for this patient is/are
• A 40-year-old woman was treated for breast cancer 5 years ago by lumpectomy, breast irradiation, and 3 months of chemotherapy. Her original cancer was negative for estrogen and progesterone receptors and unequivocally positive for HER2. Her periods stopped during chemotherapy but resumed 4 months later, and she remains premenopausal now. She is evaluated now because of pain in her back, a nagging cough, and fatigue. Physical examination shows palpable skin nodules over the affected breast, axillary adenopathy, and dullness to percussion, and decreased breath sounds in the base of the left lung; her liver edge is palpable below the right costochondral border. Liver function values are approximately twice normal; serum bilirubin is normal. Radiograph of the chest shows multiple pulmonary nodules and a left pleural effusion confirmed by CT, which also shows the liver nodules. Bone scan and MRI are consistent with bone metastases. Biopsy of one of the skin lesions is consistent with metast
• A 62-year-old postmenopausal woman with a family history of breast cancer in two first-degree relatives wishes to consider taking tamoxifen to reduce her risk of breast cancer. Her baseline risk of breast cancer qualifies her for consideration of tamoxifen (i.e., an absolute risk of at least 1.66% over the next 5 years). She has had a prior hysterectomy, but her ovaries are intact. Which of the following effects of tamoxifen are relevant to the decision?
• A 68-year-old woman is evaluated because of a lump on her chest wall. Seventeen years ago she developed stage I ductal adenocarcinoma (estrogen receptor-positive) of the left breast; her disease was managed with lumpectomy, breast radiation therapy, and 5 years of tamoxifen therapy. The lump she now has is separate from the breast, subcutaneous in location, fixed to the underlying 4th rib, and nontender. The mass is excised and found to be a fibrosarcoma. What is the relationship of this fibroscarcoma to her original cancer and its treatment?
• A 70-year-old man is found to have distal rectal cancer during a screening colonoscopy. The patient undergoes preoperative staging and is found to have a 1.5-cm rectal mass that does not invade the muscularis propria of the rectal wall. There is no regional lymphadenopathy and no evidence of distant metastases. The patient is staged at T1N0M0. The patient is advised to undergo APR but refuses because it will lead to anal sphincter loss and permanent colostomy. Which of the following represents a viable alternate therapeutic option for this patient?