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One Case of a BRCA1 Germ Line Mutation Ovarian Carcinoma Patient Based on Abnormal Immunohistochemistry Finding.

Kim HJ, Park JM, Lee HW, Lee EH, Kim MK - Korean J Pathol (2014)

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, Samsung Medical Center, Seoul, Korea.

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Ovarian cancer is one of the most lethal gynecological cancers in the Western world... Three methods are commonly used to manage BRCA mutation carriers: screening, prophylactic surgery, and chemoprevention... Salpingo-oophorectomy in carriers of BRCA mutations can decrease the risk of breast cancer and BRCA-related gynecologic cancer... This case demonstrates that IHC screening can be helpful for detecting BRCA mutations in sporadic ovarian cancer patients with unknown family histories... Our patient and her family were offered genetic counseling by gynecologic oncologist and breast cancer surgeon... Her breast mammogram and sonography showed negative results... The average lifetime risk of developing breast and ovarian cancer in women with a BRCA1 mutation are 65% and 39%, respectively... The penetrance of ovarian cancer in BRCA1 mutation carriers is known to be 11% to 23%... The patient was offered counseling on breast cancer risks and prevention... As our abilities to recognize genetic risks improve, patients with an inherited risk of ovarian carcinoma can be identified before cancer onset, rendering effective prevention of ovarian carcinoma associated with inherited risks... IHC screening can help diagnose BRCA mutations, and clinicians should recommend genetic sequencing in patients with unknown family histories of disease.

No MeSH data available.


Computerized axial tomography scan and gene sequencing results.
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f1-kjpathol-48-5-379: Computerized axial tomography scan and gene sequencing results.

Mentions: A 52-year-old woman complaining of constipation and abdominal distension was referred to our hospital from a local clinic. Computerized axial tomography scans showed a 12-cm solid and cystic ovarian mass with a large amount of ascites and right pleural effusion (Fig. 1). Her cancer antigen-125 level was 432.4 U/mL. After other laboratory tests were performed, we conducted a staging exploratory laparotomy. Pathology showed grade 3, stage IV serous papillary adenocarcinoma from the ovary invading the pelvic cavity and right pleura. The patient underwent adjuvant taxane and carboplatin combination chemotherapy via six cycles of paclitaxel (175 mg/m2) plus carboplatin of the area under the curve of 5 mg given on day one of a 21-day cycle.


One Case of a BRCA1 Germ Line Mutation Ovarian Carcinoma Patient Based on Abnormal Immunohistochemistry Finding.

Kim HJ, Park JM, Lee HW, Lee EH, Kim MK - Korean J Pathol (2014)

Computerized axial tomography scan and gene sequencing results.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4215965&req=5

f1-kjpathol-48-5-379: Computerized axial tomography scan and gene sequencing results.
Mentions: A 52-year-old woman complaining of constipation and abdominal distension was referred to our hospital from a local clinic. Computerized axial tomography scans showed a 12-cm solid and cystic ovarian mass with a large amount of ascites and right pleural effusion (Fig. 1). Her cancer antigen-125 level was 432.4 U/mL. After other laboratory tests were performed, we conducted a staging exploratory laparotomy. Pathology showed grade 3, stage IV serous papillary adenocarcinoma from the ovary invading the pelvic cavity and right pleura. The patient underwent adjuvant taxane and carboplatin combination chemotherapy via six cycles of paclitaxel (175 mg/m2) plus carboplatin of the area under the curve of 5 mg given on day one of a 21-day cycle.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, Samsung Medical Center, Seoul, Korea.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Ovarian cancer is one of the most lethal gynecological cancers in the Western world... Three methods are commonly used to manage BRCA mutation carriers: screening, prophylactic surgery, and chemoprevention... Salpingo-oophorectomy in carriers of BRCA mutations can decrease the risk of breast cancer and BRCA-related gynecologic cancer... This case demonstrates that IHC screening can be helpful for detecting BRCA mutations in sporadic ovarian cancer patients with unknown family histories... Our patient and her family were offered genetic counseling by gynecologic oncologist and breast cancer surgeon... Her breast mammogram and sonography showed negative results... The average lifetime risk of developing breast and ovarian cancer in women with a BRCA1 mutation are 65% and 39%, respectively... The penetrance of ovarian cancer in BRCA1 mutation carriers is known to be 11% to 23%... The patient was offered counseling on breast cancer risks and prevention... As our abilities to recognize genetic risks improve, patients with an inherited risk of ovarian carcinoma can be identified before cancer onset, rendering effective prevention of ovarian carcinoma associated with inherited risks... IHC screening can help diagnose BRCA mutations, and clinicians should recommend genetic sequencing in patients with unknown family histories of disease.

No MeSH data available.