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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.

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(A) Hematoxylin and eosin staining of sample. (B) BRCA1 immunohistochemistry (IHC) (negative staining). (C) BRCA2 IHC (focal positive staining). Agent: BRCA1 (Abcam ab16870), BRCA2 (Abcam ab110967). Evaluation: Nuclear staining of the tumor is scored as either 2 (strong, normal), 1 (weak), or 0 (negative, abnormal) compared with the corresponding internal control.
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f2-kjpathol-48-5-379: (A) Hematoxylin and eosin staining of sample. (B) BRCA1 immunohistochemistry (IHC) (negative staining). (C) BRCA2 IHC (focal positive staining). Agent: BRCA1 (Abcam ab16870), BRCA2 (Abcam ab110967). Evaluation: Nuclear staining of the tumor is scored as either 2 (strong, normal), 1 (weak), or 0 (negative, abnormal) compared with the corresponding internal control.

Mentions: The patient declined to discuss her family history and her family members were not contacted for further information. However, she approved genetic testing after counseling. Immunohistochemistry (IHC) screening of the mismatch repair genes BRCA1 and BRCA2 was performed, showing abnormal immunoreactivity for BRCA1 (negative staining) and focal positive reaction for BRCA2 (Fig. 2). Gene sequencing for BRCA1 and BRCA2 was conducted after counseling and a deletion of ATTGGGCA at codon 1824 in exon 24 was detected, with the stop codon (TGA) appearing in 1826 [5470_ 5477del8 (p.Ile1824-AspfsX3)]. This frame shift mutation produced a truncated protein (Fig. 1).


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)

(A) Hematoxylin and eosin staining of sample. (B) BRCA1 immunohistochemistry (IHC) (negative staining). (C) BRCA2 IHC (focal positive staining). Agent: BRCA1 (Abcam ab16870), BRCA2 (Abcam ab110967). Evaluation: Nuclear staining of the tumor is scored as either 2 (strong, normal), 1 (weak), or 0 (negative, abnormal) compared with the corresponding internal control.
© Copyright Policy
Related In: Results  -  Collection

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

f2-kjpathol-48-5-379: (A) Hematoxylin and eosin staining of sample. (B) BRCA1 immunohistochemistry (IHC) (negative staining). (C) BRCA2 IHC (focal positive staining). Agent: BRCA1 (Abcam ab16870), BRCA2 (Abcam ab110967). Evaluation: Nuclear staining of the tumor is scored as either 2 (strong, normal), 1 (weak), or 0 (negative, abnormal) compared with the corresponding internal control.
Mentions: The patient declined to discuss her family history and her family members were not contacted for further information. However, she approved genetic testing after counseling. Immunohistochemistry (IHC) screening of the mismatch repair genes BRCA1 and BRCA2 was performed, showing abnormal immunoreactivity for BRCA1 (negative staining) and focal positive reaction for BRCA2 (Fig. 2). Gene sequencing for BRCA1 and BRCA2 was conducted after counseling and a deletion of ATTGGGCA at codon 1824 in exon 24 was detected, with the stop codon (TGA) appearing in 1826 [5470_ 5477del8 (p.Ile1824-AspfsX3)]. This frame shift mutation produced a truncated protein (Fig. 1).

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.


Related in: MedlinePlus